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https://www.readbyqxmd.com/read/27920424/ultrastructural-characterization-of-the-lower-motor-system-in-a-mouse-model-of-krabbe-disease
#1
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 2016: Scientific Reports
https://www.readbyqxmd.com/read/27887956/-childhood-s-ophthalmologic-involvement-in-sturge-weber-krabbe-syndrome
#2
M Wirth, M-C Bazard, E Schmitt, M Rouabah, J-M Hascoët
Ophthalmologic involvement in Sturge-Weber-Krabbe syndrome (SWKS) is present in 30-70% of cases and needs to be reviewed because of its impact on visual development. We report a case of a newborn for whom SSWK with ophthalmologic involvement was suspected. She had a right segmental plane angioma associated with right congenital glaucoma and suspected right pial angioma. Ophthalmic involvement in SWKS may be nonocular: iatrogenic by treatment-associated complications and central by leptomeningeal damage. Ophthalmologic involvement can occur throughout childhood and is mainly represented by glaucoma and diffuse choroidal hemangioma and then conjunctival hemangioma, retinal detachment, and iris heterochromia...
November 22, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27807631/head-to-head-comparison-of-health-state-values-derived-by-a-probabilistic-choice-model-and-scores-on-a-visual-analogue-scale
#3
Paul F M Krabbe, Elly A Stolk, Nancy J Devlin, Feng Xie, Elise H Quik, A Simon Pickard
BACKGROUND: Health states were quantified based on discrete choice (DC) modeling and visual analogue scale (VAS) values using the five-level version of the EQ-5D (EQ-5D-5L). The aim of this study was to determine the extent of the relationship between DC derived values (indirect method) and VAS values (direct method). METHODS: Data were collected in Canada, the United Kingdom, the Netherlands, and the United States. Respondents were asked to perform paired comparisons between two EQ-5D-5L health states for DC...
November 2, 2016: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/27795735/respiration-activity-monitoring-system-for-any-individual-well-of-a-48-well-microtiter-plate
#4
David Flitsch, Sebastian Krabbe, Tobias Ladner, Mario Beckers, Jana Schilling, Stefan Mahr, Uwe Conrath, Werner K Schomburg, Jochen Büchs
BACKGROUND: Small-scale micro-bioreactors have become the cultivation vessel of choice during the first steps of bioprocess development. They combine high cultivation throughput with enhanced cost efficiency per cultivation. To gain the most possible information in the early phases of process development, online monitoring of important process parameters is highly advantageous. One of these important process parameters is the oxygen transfer rate (OTR). Measurement of the OTR, however, is only available for small-scale fermentations in shake flasks via the established RAMOS technology until now...
2016: Journal of Biological Engineering
https://www.readbyqxmd.com/read/27785426/variant-histology-in-bladder-cancer-how-it-should-change-the-management-in-non-muscle-invasive-and-muscle-invasive-disease
#5
REVIEW
Yvonne Klaile, Katrin Schlack, Martin Boegemann, Julie Steinestel, Andres Jan Schrader, Laura-Maria Krabbe
Bladder cancer (BC) is a frequent type of carcinoma with an estimated incidence of approximately 100,000 men and women each year in the European Union (EU) with an associated mortality of 30,000 of these patients. In more than 70% the disease is diagnosed in a non-muscle invasive stage with the chance of minimally invasive, local treatment only, which might be required repetitively due to high rate of recurrence. In contrast, muscle invasive or metastatic stages need multimodal treatment strategies including surgical treatment and chemotherapy (CTX) in neoadjuvant (NAC), adjuvant, or palliative settings...
October 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/27785412/neuroradiological-neurophysiological-and-molecular-findings-in-infantile-krabbe-disease-two-case-reports
#6
E Vargiami, E Papathanasiou, S Batzios, M Kyriazi, E Dimitriou, A Anastasiou, H Michelakakis, A-K Giese, D I Zafeiriou
Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular findings in two Greek patients with the infantile form of Krabbe disease. The index patients presented at the age of 3.5 and 6 months, respectively, due to developmental delay. Magnetic resonance imaging (MRI) of the first patient's brain demonstrated signs of leukodystrophy, while nerve conduction velocities (NCVs) were significantly decreased...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27780934/patient-fibroblasts-derived-induced-neurons-demonstrate-autonomous-neuronal-defects-in-adult-onset-krabbe-disease
#7
Su Min Lim, Byung-Ok Choi, Seong-Il Oh, Won Jun Choi, Ki-Wook Oh, Minyeop Nahm, Yuanchao Xue, Jae Hyeok Choi, Ji Young Choi, Young-Eun Kim, Ki Wha Chung, Xiang-Dong Fu, Chang-Seok Ki, Seung Hyun Kim
Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by defective β-galactosylceramidase (GALC), a lysosomal enzyme responsible for cleavage of several key substrates including psychosine. Accumulation of psychosine to the cytotoxic levels in KD patients is thought to cause dysfunctions in myelinating glial cells based on a comprehensive study of demyelination in KD. However, recent evidence suggests myelin-independent neuronal death in the murine model of KD, thus indicating defective GALC in neurons as an autonomous mechanism for neuronal cell death in KD...
October 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/27779215/the-use-of-targeted-genomic-capture-and-massively-parallel-sequencing-in-diagnosis-of-chinese-leukoencephalopathies
#8
Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng
Leukoencephalopathies are diseases with high clinical heterogeneity. In clinical work, it's difficult for doctors to make a definite etiological diagnosis. Here, we designed a custom probe library which contains the known pathogenic genes reported to be associated with Leukoencephalopathies, and performed targeted gene capture and massively parallel sequencing (MPS) among 49 Chinese patients who has white matter damage as the main imaging changes, and made the validation by Sanger sequencing for the probands' parents...
October 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27773481/distinct-hippocampal-pathways-mediate-dissociable-roles-of-context-in-memory-retrieval
#9
Chun Xu, Sabine Krabbe, Jan Gründemann, Paolo Botta, Jonathan P Fadok, Fumitaka Osakada, Dieter Saur, Benjamin F Grewe, Mark J Schnitzer, Edward M Callaway, Andreas Lüthi
Memories about sensory experiences are tightly linked to the context in which they were formed. Memory contextualization is fundamental for the selection of appropriate behavioral reactions needed for survival, yet the underlying neuronal circuits are poorly understood. By combining trans-synaptic viral tracing and optogenetic manipulation, we found that the ventral hippocampus (vHC) and the amygdala, two key brain structures encoding context and emotional experiences, interact via multiple parallel pathways...
October 18, 2016: Cell
https://www.readbyqxmd.com/read/27740754/copper-catalyzed-aerobic-oxidative-amidation-of-benzyl-alcohols
#10
Scott W Krabbe, Vincent S Chan, Thaddeus S Franczyk, Shashank Shekhar, José G Napolitano, Carmina A Presto, Justin A Simanis
A Cu-catalyzed synthesis of amides from alcohols and secondary amines using the oxygen in air as the terminal oxidant has been developed. The methodology is operationally simple requiring no high pressure equipment or potentially explosive O2 balloons. The commercially available, non-precious metal catalyst, Cu(phen)Cl2, in conjunction with di-tert-butyl hydrazine dicarboxylate and an inorganic base provides a variety of benzamides in moderate to excellent yields. The pKa of amine conjugate acid and electronics of alcohol were shown to impact the selection of base for optimal reactivity...
October 14, 2016: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/27721144/glycosynthase-mediated-synthesis-of-psychosine
#11
Ethan D Goddard-Borger, Christina Tysoe, Stephen G Withers
Globoid cell leukodystrophy (GCL), or Krabbe disease, is a lysosomal storage disorder characterized by a deficiency in galactosylceramidase (GALC), which hydrolyses galactosylceramide and galactosylsphingosine (psychosine). Early detection of GCL in newborns is essential for timely therapeutic intervention and could be achieved by testing infant blood samples with isotopically labeled lysosmal enzyme substrates and mass spectrometry. While isotopically labeled psychosine would be a useful tool for the early diagnosis of GCL, its synthesis is lengthy and expensive...
September 22, 2016: Carbohydrate Research
https://www.readbyqxmd.com/read/27696932/improving-diagnostic-molecular-tests-to-monitor-urothelial-carcinoma-recurrence
#12
Laura-Maria Krabbe, Solomon L Woldu, Shahrokh F Shariat, Yair Lotan
The high recurrence rates associated with non-muscle invasive bladder cancer require close surveillance with cystoscopy, an invasive and expensive procedure with risk of missing cancer. Finding an accurate urinary biomarker that can detect recurrent disease would represent a significant advancement in management. Areas covered: This review summarizes the commercially-available urinary biomarkers including cytology, UroVysion, BTA, NMP22, uCyt+, and Cxbladder assays. Additionally, we review recent investigational urinary biomarkers that hold promise in bladder cancer surveillance...
November 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27682742/investigation-of-a-multi-biomarker-disease-activity-score-in-rheumatoid-arthritis-by-comparison-with-magnetic-resonance-imaging-computed-tomography-ultrasonography-and-radiography-parameters-of-inflammation-and-damage
#13
S Krabbe, R Bolce, C H Brahe, U M Døhn, B J Ejbjerg, M L Hetland, E H Sasso, D Chernoff, M S Hansen, L S Knudsen, A Hansen, O R Madsen, M Hasselquist, J Møller, M Østergaard
OBJECTIVES: To investigate the multi-biomarker disease activity (MBDA) score by comparison with imaging findings in an investigator-initiated rheumatoid arthritis (RA) trial (HURRAH trial, NCT00696059). METHOD: Fifty-two patients with established RA initiated adalimumab treatment and had magnetic resonance imaging (MRI), ultrasonography (US), computed tomography (CT), and radiography performed at weeks 0, 26, and 52. Serum samples were analysed using MBDA score assays and associations between clinical measures, MBDA score, and imaging findings were investigated...
September 28, 2016: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/27679535/predominant-corticospinal-tract-involvement-in-a-late-infant-with-krabbe-disease
#14
Ayumi Yoshimura, Tetsuya Kibe, Kaori Irahara, Norio Sakai, Kenji Yokochi
A case of late-infantile Krabbe disease in a patient who presented with developmental regression and spastic quadriplegia in late infancy is reported. Brain magnetic resonance imaging (MRI) at 11 months of age showed predominant corticospinal tract involvement, which usually appears in adult Krabbe disease. Galactocerebrosidase activity in lymphocytes and skin fibroblasts was very low. Genetic testing revealed compound heterozygous mutations of the galactocerebrosidase (GALC) gene, c.635_646 delinsCTC and c...
2016: Japanese Clinical Medicine
https://www.readbyqxmd.com/read/27677296/diffusion-tensor-imaging-analysis-of-the-brain-in-the-canine-model-of-krabbe-disease
#15
Allison Bradbury, David Peterson, Charles Vite, Steven Chen, N Matthew Ellinwood, James Provenzale
PURPOSE: The goal of this study was to compare the diffusion tensor imaging (DTI) metrics from an end-stage canine Krabbe brain evaluated by MR imaging ex vivo to those of a normal dog brain. We hypothesized that the white matter of the canine Krabbe brain would show decreased fractional anisotropy (FA) values and increased apparent diffusion coefficient (ADC) and radial diffusivity (RD) values. METHODS: An 11-week-old Krabbe dog was euthanized after disease progression...
December 2016: Neuroradiology Journal
https://www.readbyqxmd.com/read/27670916/post-operative-nomogram-for-relapse-free-survival-in-patients-with-high-grade-upper-tract-urothelial-carcinoma
#16
Laura-Maria Krabbe, Okyaz Eminaga, Shahrokh F Shariat, Ryan C Hutchinson, Yair Lotan, Arthur I Sagalowsky, Jay D Raman, Christopher G Wood, Alon Z Weizer, Marco Roscigno, Francesco Montorsi, Christian Bolenz, Giacomo Novara, Eiji Kikuchi, Harun Fajkovic, Leonid M Rapoport, Peter V Glybochko, Richard Zigeuner, Mesut Remzi, Karim Bensalah, Wassim Kassouf, Vitaly Margulis
PURPOSE: To develop a prognostic nomogram after extirpative for patients with high-grade UTUC. MATERIALS AND METHODS: Clinical data were available for 2,926 patients diagnosed with high-grade UTUC who underwent extirpative surgery. Cox proportional hazard regression models identified independent prognosticators of relapse in the development cohort (n=838). A backward step-down selection process was applied to achieve the most informative nomogram with the least number of variables...
September 23, 2016: Journal of Urology
https://www.readbyqxmd.com/read/27638617/immunological-considerations-for-treating-globoid-cell-leukodystrophy
#17
REVIEW
Subha Karumuthil-Melethil, Steven J Gray
Globoid cell leukodystrophy (GLD, or Krabbe's disease) is a severe inherited neurodegenerative disease caused by the lack of a lysosomal enzyme, GALC. The disease has been characterized in humans as well as three naturally occurring animal models, murine, canine, and nonhuman primate. Multiple treatment strategies have been explored for GLD, including enzyme replacement therapy, small-molecule pharmacological approaches, gene therapy, and bone marrow transplant. No single therapeutic approach has proved to be entirely effective, and the reason for this is not well understood...
November 2016: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27638616/neuroimmune-mechanisms-in-krabbe-s-disease
#18
REVIEW
Gregory B Potter, Magdalena A Petryniak
Neuroinflammation, activation of innate immune components of the nervous system followed by an adaptive immune response, is observed in most leukodystrophies and coincides with white matter pathology, disease progression, and morbidity. Despite this, there is a major gap in our knowledge of the contribution of the immune system to disease phenotype. Inflammation in Krabbe's disease has been considered a secondary effect, resulting from cell-autonomous oligodendroglial cell death or myelin loss resulting from psychosine accumulation...
November 2016: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27638615/port-to-port-delivery-mobilization-of-toxic-sphingolipids-via-extracellular-vesicles
#19
Giuseppe Scesa, Ana Lis Moyano, Ernesto R Bongarzone, Maria I Givogri
The discovery that most cells produce extracellular vesicles (EVs) and release them in the extracellular milieu has spurred the idea that these membranous cargoes spread pathogenic mechanisms. In the brain, EVs may have multifold and important physiological functions, from deregulating synaptic activity to promoting demyelination to changes in microglial activity. The finding that small EVs (exosomes) contain α-synuclein and β-amyloid, among other pathogenic proteins, is an example of this notion, underscoring their potential role in the brains of patients with Parkinson's and Alzheimer's diseases...
November 2016: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27638614/beyond-krabbe-s-disease-the-potential-contribution-of-galactosylceramidase-deficiency-to-neuronal-vulnerability-in-late-onset-synucleinopathies
#20
Michael S Marshall, Ernesto R Bongarzone
New insights into the pathophysiological mechanisms behind late-onset neurodegenerative diseases have come from unexpected sources in recent years. Specifically, the group of inherited metabolic disorders known as lysosomal storage diseases that most commonly affect infants has been found to have surprising similarities with adult neurodegenerative disorders. Most notable has been the identification of Gaucher's disease as a comorbidity for Parkinson's disease. Prompted by the recent identification of neuronal aggregates of α-synuclein in another lysosomal storage disease, Krabbe's disease, we propose the idea that a similar connection exists between adult synucleinopathies and Krabbe's...
November 2016: Journal of Neuroscience Research
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