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Krabbe

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https://www.readbyqxmd.com/read/28620061/whole-body-magnetic-resonance-imaging-in-inflammatory-arthritis-systematic-literature-review-and-first-steps-toward-standardization-and-an-omeract-scoring-system
#1
Mikkel Østergaard, Iris Eshed, Christian E Althoff, Rene P Poggenborg, Torsten Diekhoff, Simon Krabbe, Sabine Weckbach, Robert G W Lambert, Susanne J Pedersen, Walter P Maksymowych, Charles G Peterfy, Jane Freeston, Paul Bird, Philip G Conaghan, Kay-Geert A Hermann
OBJECTIVE: Whole-body magnetic resonance imaging (WB-MRI) is a relatively new technique that can enable assessment of the overall inflammatory status of people with arthritis, but standards for image acquisition, definitions of key pathologies, and a quantification system are required. Our aim was to perform a systematic literature review (SLR) and to develop consensus definitions of key pathologies, anatomical locations for assessment, a set of MRI sequences and imaging planes for the different body regions, and a preliminary scoring system for WB-MRI in inflammatory arthritis...
June 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28598007/large-scale-study-of-clinical-and-biochemical-characteristics-of-chinese-patients-diagnosed-with-krabbe-disease
#2
Shichao Zhao, Xia Zhan, Yu Wang, Jun Ye, Lianshu Han, Wenjuan Qiu, Xiaolan Gao, Xuefan Gu, Huiwen Zhang
Krabbe disease (KD) is a rare disease caused by the deficiency of β-galactocerebrosidase. This study investigated 22 unrelated Chinese patients, including their clinical presentations, plasma psychosine levels and GALC gene mutations. We found the late-onset form of KD present in 82% of the patients in our study, which was more prevalent than in patients from other populations. Plasma psychosine levels were elevated in KD, which were correlated with the severity of clinical presentations. Sanger sequencing identified 8 novel mutations, including 7 missense mutations, p...
June 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28592445/lymphocyte-galactocerebrosidase-activity-by-lc-ms-ms-for-post-newborn-screening-evaluation-of-krabbe-disease
#3
Hsuan-Chieh Liao, Zdenek Spacil, Farideh Ghomashchi, Maria L Escolar, Joanne Kurtzberg, Joseph J Orsini, Frantisek Turecek, C Ronald Scott, Michael H Gelb
BACKGROUND: Deficiency of the lysosomal enzyme galactosylcerebrosidase (GALC) causes Krabbe disease. Newborn screening for Krabbe disease is ongoing, but improved methods for follow-up analysis of screen-positive babies are needed to better advise families and to optimize treatment. We report a new assay for the enzymatic activity of GALC in lymphocytes. METHODS: T lymphocytes were isolated from venous blood by magnetic bead technology. The assay used a close structural analog of the natural substrate and LC-MS/MS to quantify the amount of product with the aid of a chemically identical internal standard...
June 7, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28579020/psychosine-a-marker-of-krabbe-phenotype-and-treatment-effect
#4
M L Escolar, B T Kiely, E Shawgo, X Hong, M H Gelb, J J Orsini, D Matern, M D Poe
Newborn screening (NBS) for Krabbe disease, a rare neurodegenerative disorder caused by deficient galactocerebrosidase (GALC) enzyme activity, has recently been implemented in a number of US states. However, the spectrum of phenotypic manifestations associated with deficient GALC activity complicates the management of screen-positive newborns and underscores the need to identify clinically relevant biomarkers. Earlier studies with a small number of patients identified psychosine, a substrate of the GALC enzyme, as a potential biomarker for Krabbe disease...
May 22, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28575206/heterozygote-galactocerebrosidase-galc-mutants-have-reduced-remyelination-and-impaired-myelin-debris-clearance-following-demyelinating-injury
#5
Nicole J Scott-Hewitt, Christopher J Folts, Jessica M Hogestyn, Gavin Piester, Margot Mayer-Pröschel, Mark D Noble
Genome-wide association studies (GWAS) are identifying multiple genetic risk factors for several diseases, but the functional role of these changes remains mostly unknown. Variants in the galactocerebrosidase (GALC) gene, for example, were identified as a risk factor for Multiple Sclerosis (MS); however, potential biological relevance of GALC variants to MS remains elusive. We found that heterozygote GALC mutant mice have reduced myelin debris clearance and diminished remyelination after a demyelinating insult...
May 31, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28554267/executive-function-and-attention-in-patients-with-stress-related-exhaustion-perceived-fatigue-and-effect-of-distraction
#6
David Krabbe, Susanne Ellbin, Michael Nilsson, Ingibjörg H Jonsdottir, Hans Samuelsson
Cognitive impairment has frequently been shown in patients who seek medical care for stress-related mental health problems. This study aims to extend the current knowledge of cognitive impairments in these patients by focusing on perceived fatigue and effects of distraction during cognitive testing. Executive function and attention were tested in a group of patients with stress-related exhaustion (n = 25) and compared with healthy controls (n = 25). Perceived fatigue was measured before, during and after the test session, and some of the tests were administered with and without standardized auditory distraction...
June 20, 2017: Stress: the International Journal on the Biology of Stress
https://www.readbyqxmd.com/read/28552323/clinical-and-molecular-analysis-of-six-novel-galc-mutations-identified-in-7-chinese-children-with-krabbe-disease
#7
Lifang Dai, Tongli Han, Xinying Yang, Xu Wang, Jiuwei Li, Junlan Lu, Wuchang Zhang, Xiaotun Ren, Fang Fang
BACKGROUND: Krabbe disease is an autosomal recessive leukodystrophy caused by the deficiency of the galactocerebrosidase (GALC). GALC deficiency results in abnormal accumulation of galactosylsphingosine (psychosine) which cause demyelination of the central and peripheral nervous systems. OBJECTIVE: To identify clinical manifestation and GALC mutations in Chinese Krabbe disease patients. METHODS: We used targeted next-generation sequencing to identify GALC mutations in Chinese patients with white matter disease...
May 25, 2017: Brain & Development
https://www.readbyqxmd.com/read/28533815/efficient-itaconic-acid-production-from-glycerol-with-ustilago-vetiveriae-tz1
#8
Thiemo Zambanini, Hamed Hosseinpour Tehrani, Elena Geiser, Dorothee Merker, Sarah Schleese, Judith Krabbe, Joerg M Buescher, Guido Meurer, Nick Wierckx, Lars M Blank
BACKGROUND: The family of Ustilaginaceae is known for their capability to naturally produce industrially valuable chemicals from different carbon sources. Recently, several Ustilaginaceae were reported to produce organic acids from glycerol, which is the main side stream in biodiesel production. RESULTS: In this study, we present Ustilago vetiveriae as new production organism for itaconate synthesis from glycerol. In a screening of 126 Ustilaginaceae, this organism reached one of the highest titers for itaconate combined with a high-glycerol uptake rate...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/28531236/psychosine-enhances-the-shedding-of-membrane-microvesicles-implications-in-demyelination-in-krabbe-s-disease
#9
Ludovic D'Auria, Cory Reiter, Emma Ward, Ana Lis Moyano, Michael S Marshall, Duc Nguyen, Giuseppe Scesa, Zane Hauck, Richard van Breemen, Maria I Givogri, Ernesto R Bongarzone
In prior studies, our laboratory showed that psychosine accumulates and disrupts lipid rafts in brain membranes of Krabbe's disease. A model of lipid raft disruption helped explaining psychosine's effects on several signaling pathways important for oligodendrocyte survival and differentiation but provided more limited insight in how this sphingolipid caused demyelination. Here, we have studied how this cationic inverted coned lipid affects the fluidity, stability and structure of myelin and plasma membranes...
2017: PloS One
https://www.readbyqxmd.com/read/28485814/partial-nephrectomy-versus-radical-nephrectomy-for-clinical-localised-renal-masses
#10
REVIEW
Frank Kunath, Stefanie Schmidt, Laura-Maria Krabbe, Arkadiusz Miernik, Philipp Dahm, Anne Cleves, Mario Walther, Nils Kroeger
BACKGROUND: Partial nephrectomy and radical nephrectomy are the relevant surgical therapy options for localised renal cell carcinoma. However, debate regarding the effects of these surgical approaches continues and it is important to identify and summarise high-quality studies to make surgical treatment recommendations. OBJECTIVES: To assess the effects of partial nephrectomy compared with radical nephrectomy for clinically localised renal cell carcinoma. SEARCH METHODS: We searched CENTRAL, MEDLINE, PubMed, Embase, Web of Science, BIOSIS, LILACS, Scopus, two trial registries and abstracts from three major conferences to 24 February 2017, together with reference lists; and contacted selected experts in the field...
May 9, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28477283/linking-mitochondrial-dysfunction-to-neurodegeneration-in-lysosomal-storage-diseases
#11
REVIEW
Afshin Saffari, Stefan Kölker, Georg F Hoffmann, Darius Ebrahimi-Fakhari
Lysosomal storage diseases (LSD) are inborn errors of metabolism resulting in multisystem disease. Central nervous system involvement, often with progressive neurodegeneration, accounts for a large portion of the morbidity and mortality seen in many LSD. Available treatments fail to prevent or correct neurologic symptoms and decline. Emerging evidence points to an important role for mitochondrial dysfunction in the pathogenesis and progression of LSD-associated neurodegeneration. Mitochondrial dysfunction in LSD is characterized by alterations in mitochondrial mass, morphology and function...
May 5, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#12
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28455441/avian-thermoregulation-in-the-heat-evaporative-cooling-in-five-australian-passerines-reveals-within-order-biogeographic-variation-in-heat-tolerance
#13
Andrew E McKechnie, Alexander R Gerson, Todd J McWhorter, Eric Krabbe Smith, William A Talbot, Blair O Wolf
Evaporative heat loss pathways vary among avian orders, but the extent to which evaporative cooling capacity and heat tolerance varies within orders remains unclear. We quantified the upper limits to thermoregulation under extremely hot conditions in five Australian passerines: yellow-plumed honeyeater (Lichenostomus ornatus; ∼17 g), spiny-cheeked honeyeater (Acanthagenys rufogularis; ∼42 g), chestnut-crowned babbler (Pomatostomus ruficeps; ∼52 g), grey butcherbird (Cracticus torquatus; ∼86 g) and apostlebird (Struthidea cinerea; ∼118 g)...
April 28, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28451156/how-covalence-breaks-adsorption-energy-scaling-relations-and-solvation-restores-them
#14
Federico Calle-Vallejo, Alexander Krabbe, Juan M García-Lastra
It is known that breaking the scaling relations between the adsorption energies of *O, *OH, and *OOH is paramount in catalyzing more efficiently the reduction of O2 in fuel cells and its evolution in electrolyzers. Taking metalloporphyrins as a case study, we evaluate here the adsorption energies of those adsorbates on the metal centers Cr, Mn, Fe, Co, Ni and Cu, using H, F, OH, NH2, CH3, and BH2 as ring ligands. We show that covalence systematically breaks scaling relations under vacuum by strengthening certain M-OOH bonds...
January 1, 2017: Chemical Science
https://www.readbyqxmd.com/read/28442746/ultrastructural-characterization-of-the-lower-motor-system-in-a-mouse-model-of-krabbe-disease
#15
Valentina Cappello, Laura Marchetti, Paola Parlanti, Silvia Landi, Ilaria Tonazzini, Marco Cecchini, Vincenzo Piazza, Mauro Gemmi
Krabbe disease (KD) is a neurodegenerative disorder caused by the lack of β- galactosylceramidase enzymatic activity and by widespread accumulation of the cytotoxic galactosyl-sphingosine in neuronal, myelinating and endothelial cells. Despite the wide use of Twitcher mice as experimental model for KD, the ultrastructure of this model is partial and mainly addressing peripheral nerves. More details are requested to elucidate the basis of the motor defects, which are the first to appear during KD onset. Here we use transmission electron microscopy (TEM) to focus on the alterations produced by KD in the lower motor system at postnatal day 15 (P15), a nearly asymptomatic stage, and in the juvenile P30 mouse...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/28438992/microglial-nf%C3%AE%C2%BAb-tnf%C3%AE-hyperactivation-induces-obsessive-compulsive-behavior-in-mouse-models-of-progranulin-deficient-frontotemporal-dementia
#16
Grietje Krabbe, S Sakura Minami, Jon I Etchegaray, Praveen Taneja, Biljana Djukic, Dimitrios Davalos, David Le, Iris Lo, Lihong Zhan, Meredith C Reichert, Faten Sayed, Mario Merlini, Michael E Ward, David C Perry, Suzee E Lee, Ana Sias, Christopher N Parkhurst, Wen-Biao Gan, Katerina Akassoglou, Bruce L Miller, Robert V Farese, Li Gan
Frontotemporal dementia (FTD) is the second most common dementia before 65 years of age. Haploinsufficiency in the progranulin (GRN) gene accounts for 10% of all cases of familial FTD. GRN mutation carriers have an increased risk of autoimmune disorders, accompanied by elevated levels of tissue necrosis factor (TNF) α. We examined behavioral alterations related to obsessive-compulsive disorder (OCD) and the role of TNFα and related signaling pathways in FTD patients with GRN mutations and in mice lacking progranulin (PGRN)...
May 9, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28423853/square-2-a-web-application-for-data-monitoring-in-epidemiological-and-clinical-studies
#17
Carsten Oliver Schmidt, Christine Krabbe, Janka Schössow, Martin Albers, Dörte Radke, Jörg Henke
Valid scientific inferences from epidemiological and clinical studies require high data quality. Data generating departments therefore aim to detect data irregularities as early as possible in order to guide quality management processes. In addition, after the completion of data collections the obtained data quality must be evaluated. This can be challenging in complex studies due to a wide scope of examinations, numerous study variables, multiple examiners, devices, and examination centers. This paper describes a Java EE web application used to monitor and evaluate data quality in institutions with complex and multiple studies, named Square(2)...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28412075/vaccine-preferences-and-acceptance-of-older-adults
#18
R Eilers, H E de Melker, J Veldwijk, P F M Krabbe
BACKGROUND: Expanding vaccination programs for the older population might be important as older adults are becoming a larger proportion of the general population. The aim of this study is to determine the relative importance of vaccine and disease specific characteristics and acceptance for Dutch older adults, including pneumococcal disease, herpes zoster, pertussis vaccination, and influenza vaccination. METHODS: A discrete choice experiment was conducted to generate choice data that was analyzed using a mixed multinomial logit statistical model...
April 12, 2017: Vaccine
https://www.readbyqxmd.com/read/28399699/prognostic-and-discriminative-power-of-the-7th-tnm-classification-for-patients-with-surgically-treated-papillary-renal-cell-carcinoma-results-of-a-multi-institutional-validation-study-corona-subtype-project
#19
Matthias May, Cristian Surcel, Umberto Capitanio, Paolo Dell'Oglio, Tobias Klatte, Shahrokh Shariat, Thorsten Ecke, Ingmar Wolff, Daniel Vergho, Nina Wagener, Nina Huck, Sascha Pahernik, Stefan Zastrow, Manfred Wirth, Hendrik Borgmann, Axel Haferkamp, Mireia Musquera, Laura M Krabbe, Edwin Herrmann, Anna Scavuzzo, Cristian Mirvald, Georg Hutterer, Richard Zigeuner, Christian G Stief, Raphaela Waidelich, Luca Cindolo, Krystina Kalusova, Sabine D Brookman-May
OBJECTIVE: Studies on the prognostic reliability of the Union for International Cancer Control tumor, node, metastasis (TNM) staging system for renal cell carcinoma (RCC) predominantly focus on clear-cell RCC. Therefore, the aim of this study was to investigate whether the oncological prognosis of surgically treated papillary RCC (papRCC) patients is reliably given by the current TNM system, by analyzing the largest database reported to date. MATERIALS AND METHODS: Data on 2325 papRCC patients who underwent surgical treatment in 1984- 2015 were collated from 17 international centers (median follow-up 47 months)...
April 12, 2017: Scandinavian Journal of Urology
https://www.readbyqxmd.com/read/28350534/evaluation-of-a-poct-device-for-c-reactive-protein-hematocrit-and-leukocyte-differential
#20
Albert J de Graaf, Sietske W Hiemstra, Evelien W M Kemna, Johannes G Krabbe
No abstract text is available yet for this article.
March 28, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
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