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https://www.readbyqxmd.com/read/27933294/branched-chain-amino-acid-levels-are-related-with-surrogates-of-disturbed-lipid-metabolism-among-older-men
#1
Urho M Kujala, Markku Peltonen, Merja K Laine, Jaakko Kaprio, Olli J Heinonen, Jouko Sundvall, Johan G Eriksson, Antti Jula, Seppo Sarna, Heikki Kainulainen
AIMS/HYPOTHESIS: Existing studies suggest that decreased branched-chain amino acid (BCAA) catabolism and thus elevated levels in blood are associated with metabolic disturbances. Based on such information, we have developed a hypothesis how BCAA degradation mechanistically connects to tricarboxylic acid cycle, intramyocellular lipid storage, and oxidation, thus allowing more efficient mitochondrial energy production from lipids as well as providing better metabolic health. We analyzed whether data from aged Finnish men are in line with our mechanistic hypothesis linking BCAA catabolism and metabolic disturbances...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27932283/development-and-validation-of-a-liquid-chromatography-tandem-mass-spectrometry-assay-for-the-measurement-of-faecal-metronidazole
#2
Jinny Jeffery, Zoe J Vincent, Ruth M Ayling, Stephen J Lewis
BACKGROUND: Metronidazole is an oral antibiotic which is widely used in the treatment of patients with Clostridium difficile associated disease. METHODS: This article describes the validation of a LC-MS/MS assay for the measurement of metronidazole in human faecal samples. RESULTS: Matrix matched and aqueous standards showed no significant difference in performance for the routine calibration of the assay. D(4) deuterated metronidazole internal standard eluted with a different retention time to the undeuterated metronidazole on chromatography, hence zidovudine was used as an internal standard...
December 5, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27931223/pattern-and-prognostic-value-of-cardiac-involvement-in-patients-with-late-onset-pompe-disease-a-comprehensive-cardiovascular-magnetic-resonance-approach
#3
Matthias Boentert, Anca Florian, Bianca Dräger, Peter Young, Ali Yilmaz
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal α-1,4-glucosidase leading to accumulation of glycogen in target tissues with progressive organ failure. While the early infantile-onset form is characterized by early severe hypertrophic cardiomyopathy with cardiac and respiratory failure, clinically relevant cardiomyopathy seems to be uncommon in patients with late-onset Pompe disease, and the prevalence and nature of myocardial abnormalities are still to be clarified...
December 7, 2016: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/27928775/lysosomal-storage-disorders-in-nonimmune-hydrops-fetalis-nihf-an-indian-experience
#4
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27928650/cytoglobin-a-potential-marker-for-adipogenic-differentiation-in-preadipocytes-in-vitro
#5
Ayşegül Doğan, Selami Demirci, Binnur Kıratlı, Fikrettin Şahin
Obesity, mainly characterized by the excess fat storage, is a global health problem resulting in serious morbidity and mortality. Identification of molecular mechanisms in adipogenic differentiation pathway might lead to development of new strategies for diagnosis, prevention and therapy of obesity and associated diseases. Discovery of new genes and proteins in the differentiation pathway could help to understand the key specific regulators of the adipogenesis. Cytoglobin (Cygb), identified as a new globin family member protein, is expressed in various tissues...
December 7, 2016: Cytotechnology
https://www.readbyqxmd.com/read/27926992/inherited-diseases-caused-by-mutations-in-cathepsin-protease-genes
#6
REVIEW
Stephanie Ketterer, Alejandro Gomez-Auli, Larissa E Hillebrand, Agnese Petrera, Anett Ketscher, Thomas Reinheckel
Lysosomal cathepsins are proteolytic enzymes increasingly recognized as prognostic markers and potential therapeutic targets in a variety of diseases. In those conditions the cathepsins are mostly overexpressed, thereby driving the respective pathogenic processes. Although less known, there are also diseases with a genetic deficiency of cathepsins. In fact, nowadays six out of the fifteen human proteases called "cathepsins" have been linked to inherited syndromes. However, only three of these syndromes are typical lysosomal storage diseases, while the others are apparently caused by defective cleavage of specific protein substrates...
December 7, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27925282/hypobaric-hypoxia-regulates-brain-iron-homeostasis-in-rats
#7
Yaru Li, Peng Yu, Shi-Yang Chang, Qiong Wu, Panpan Yu, Congcong Xie, Wenyue Wu, Baolu Zhao, Guofen Gao, Yan-Zhong Chang
Disruption of iron homeostasis in brain has been found to be closely involved in several neurodegenerative diseases. Recent studies have reported that appropriate intermittent hypobaric hypoxia played a protective role in brain injury caused by acute hypoxia. However, the mechanisms of this protective effect have not been fully understood. In this study, Sprague-Dawley rat models were developed by hypobaric hypoxia treatment in an altitude chamber, and the iron level and iron related protein levels were determined in rat brain after four weeks of treatment...
December 6, 2016: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/27924530/aspergillus-species-and-their-associated-mycotoxins
#8
Giancarlo Perrone, Antonia Gallo
The genus Aspergillus is among the most abundant and widely distributed organism on earth, and at the moment comprises 339 known species. It is one of the most important economically fungal genus and the biotechnological use of Aspergillus species is related to production of soy sauce, of different hydrolytic enzymes (amylases, lipases) and organic acid (citric acid, gluconic acid), as well as biologically active metabolites such as lovastatin. Although they are not considered to be major cause of plant diseases, Aspergillus species are responsible for several disorders in various plants and plant products, especially as opportunistic storage moulds...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27923875/accounting-for-protein-subcellular-localization-a-compartmental-map-of-the-rat-liver-proteome
#9
Michel Jadot, Marielle Boonen, Jacqueline Thirion, Nan Wang, Jinchuan Xing, Caifeng Zhao, Abla Tannous, Meiqian Qian, Haiyan Zheng, John K Everett, Dirk F Moore, David E Sleat, Peter Lobel
Accurate knowledge of the intracellular location of proteins is important for numerous areas of biomedical research including assessing fidelity of putative protein-protein interactions, modeling cellular processes at a system-wide level and investigating metabolic and disease pathways. Many proteins have not been localized, or have been incompletely localized, partly because most studies do not account for entire subcellular distribution. Thus, proteins are frequently assigned to one organelle while a significant fraction may reside elsewhere...
December 6, 2016: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/27923545/ten-plus-one-challenges-in-diseases-of-the-lysosomal-system
#10
Gregory A Grabowski, Chester Whitley
The advent of the first effective specific therapy for a lysosomal storage disease (LSDs), Gaucher disease type 1, by Roscoe O. Brady was foundational for development of additional treatments for this group of rare diseases. The past 26years, since the approval of enzyme therapy for Gaucher disease type 1, have witnessed a burgeoning understanding of LSDs at genetic, molecular, biochemical, cell biologic, and clinical levels. Simultaneously, this expansion of knowledge has exposed our incomplete understanding of the individual pathophysiologies of LSDs as well as difficult challenges for improvement in therapy and therapeutic outcomes for afflicted individuals...
November 29, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27923544/niemann-pick-disease-type-c-and-roscoe-brady
#11
REVIEW
Marc C Patterson, Steven U Walkley
The Niemann-Pick family of diseases was poorly understood until Roscoe Brady and his colleagues began their investigations in the 1960s. Following Brady's discovery of the defect in acid sphingomyelinase in Niemann-Pick disease, types A and B, Peter Pentchev, a senior scientist in the group, launched a series of investigations of an unusual lipid storage disease in a spontaneous mouse model. These led initially to identification of the cholesterol trafficking defect in the mouse, and then in human Niemann-Pick disease, type C (NPC)...
November 29, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27922518/hepatitis-c-point-of-care-testing-in-vulnerable-populations-a-human-factors-study
#12
Donna M Zucker, Akshaya Shanmugam
One third of all hepatitis C virus (HCV) cases in the United States are incarcerated in jails and prisons. Hepatitis C virus testing is primarily accomplished through a clinical laboratory, yet point-of-care (POC) testing is less invasive and results are available in 20 minutes compared with up to 3 weeks. The purpose of this article was to describe the findings of a collaborative project between the Colleges of Engineering and Nursing at the University of Massachusetts Amherst in executing a human factors study for HCV antibody testing and screening...
November 2016: Gastroenterology Nursing: the Official Journal of the Society of Gastroenterology Nurses and Associates
https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#13
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922231/evaluation-of-central-nervous-system-in-patients-with-glycogen-storage-disease-type-1a
#14
Yusuf Aydemir, Figen Gürakan, İnci Nur Saltık Temizel, Hülya Demir, Kader Karlı Oğuz, Dilek Yalnızoğlu, Meral Topçu, Hasan Özen, Aysel Yüce
We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27921034/crowdsourcing-precision-cerebrovascular-health-imaging-and-cloud-seeding-a-million-brains-initiative%C3%A2
#15
David S Liebeskind
Crowdsourcing, an unorthodox approach in medicine, creates an unusual paradigm to study precision cerebrovascular health, eliminating the relative isolation and non-standardized nature of current imaging data infrastructure, while shifting emphasis to the astounding capacity of big data in the cloud. This perspective envisions the use of imaging data of the brain and vessels to orient and seed A Million Brains Initiative™ that may leapfrog incremental advances in stroke and rapidly provide useful data to the sizable population around the globe prone to the devastating effects of stroke and vascular substrates of dementia...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27919600/preanalytic-of-total-antioxidant-capacity-assays-performed-in-serum-plasma-urine-and-saliva
#16
REVIEW
Cristiano Ialongo
The investigation of oxidative stress (OS), its mechanisms and connections with human diseases, is a topic of interest with more than 36,000 PubMed citations to date. The OS can be approached either from the perspective of pro-oxidation, either of anti-oxidation, and both can be investigated considering individual chemical constituents or their pooled effect. Actually, as it is for any laboratory assay, whatever source of variability introduces a bias potentially undermining the test results regardless of its application...
December 2, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27916803/advances-in-lipidomics-for-cancer-biomarkers-discovery
#17
REVIEW
Francesca Perrotti, Consuelo Rosa, Ilaria Cicalini, Paolo Sacchetta, Piero Del Boccio, Domenico Genovesi, Damiana Pieragostino
Lipids play critical functions in cellular survival, proliferation, interaction and death, since they are involved in chemical-energy storage, cellular signaling, cell membranes, and cell-cell interactions. These cellular processes are strongly related to carcinogenesis pathways, particularly to transformation, progression, and metastasis, suggesting the bioactive lipids are mediators of a number of oncogenic processes. The current review gives a synopsis of a lipidomic approach in tumor characterization; we provide an overview on potential lipid biomarkers in the oncology field and on the principal lipidomic methodologies applied...
November 28, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27915031/acid-ceramidase-deficiency-is-characterized-by-a-unique-plasma-cytokine-and-ceramide-profile-that-is-altered-by-therapy
#18
Shaalee Dworski, Ping Lu, Aneal Khan, Bruno Maranda, John J Mitchell, Rossella Parini, Maja Di Rocco, Boris Hugle, Makoto Yoshimitsu, Bo Magnusson, Balahan Makay, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Andrea Jarisch, Janet Gardner-Medwin, Rawane Dagher, Maria Teresa Terreri, Charles Marques Lorenco, Lilianna Barillas-Arias, Pranoot Tanpaiboon, Alexander Solyom, James S Norris, Xingxuan He, Edward H Schuchman, Thierry Levade, Jeffrey A Medin
Acid Ceramidase Deficiency (Farber disease, FD) is an ultra-rare Lysosomal Storage Disorder that is poorly understood and often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). Hallmarks of FD are accumulation of ceramides, widespread macrophage infiltration, splenomegaly, and lymphocytosis. The cytokines involved in this abnormal hematopoietic state are unknown. There are dozens of ceramide species and derivatives, but the specific ones that accumulate in FD have not been investigated. We used a multiplex assay to analyze cytokines and mass spectrometry to analyze ceramides in plasma from patients and mice with FD, controls, Farber patients treated by hematopoietic stem cell transplantation (HSCT), JIA patients, and patients with Gaucher disease...
December 1, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27913291/a-saposin-deficiency-model-in-drosophila-lysosomal-storage-progressive-neurodegeneration-and-sensory-physiological-decline
#19
Samantha J Hindle, Sarita Hebbar, Dominik Schwudke, Christopher J Elliott, Sean T Sweeney
Saposin deficiency is a childhood neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of life. Saposins are activator proteins that promote the function of lysosomal hydrolases that mediate the degradation of sphingolipids. There are four saposin proteins in humans, which are encoded by the prosaposin gene. Mutations causing an absence or impaired function of individual saposins or the whole prosaposin gene lead to distinct LSDs due to the storage of different classes of sphingolipids...
November 29, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27911986/persistent-organic-pollutants-in-adipose-tissue-should-be-considered-in-obesity-research
#20
Y-M Lee, K-S Kim, D R Jacobs, D-H Lee
Although low doses of persistent organic pollutants (POPs), strong lipophilic chemicals with long half-lives, have been linked to various endocrine, immune, nervous and reproductive system diseases, few obesity studies have considered adipose tissue as an important POPs exposure source. Because the toxicodynamics of POPs relate directly to the dynamics of adiposity, POPs might explain puzzling findings in obesity research. In two people exposed to the same amounts of environmental POPs, the one having more adipose tissue may be advantaged because POPs storage in adipose tissue can reduce burden on other critical organs...
December 2, 2016: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
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