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https://www.readbyqxmd.com/read/29323104/the-mechanism-of-glycosphingolipid-degradation-revealed-by-a-galc-sapa-complex-structure
#1
Chris H Hill, Georgia M Cook, Samantha J Spratley, Stuart Fawke, Stephen C Graham, Janet E Deane
Sphingolipids are essential components of cellular membranes and defects in their synthesis or degradation cause severe human diseases. The efficient degradation of sphingolipids in the lysosome requires lipid-binding saposin proteins and hydrolytic enzymes. The glycosphingolipid galactocerebroside is the primary lipid component of the myelin sheath and is degraded by the hydrolase β-galactocerebrosidase (GALC). This enzyme requires the saposin SapA for lipid processing and defects in either of these proteins causes a severe neurodegenerative disorder, Krabbe disease...
January 11, 2018: Nature Communications
https://www.readbyqxmd.com/read/29316812/aavrh10-gene-therapy-ameliorates-central-and-peripheral-nervous-system-disease-in-canine-globoid-cell-leukodystrophy-krabbe-disease
#2
Allison M Bradbury, Mohammad A Rafi, Jessica Bagel, Becky K Brisson, Michael S Marshall, Jill Pesayco Salvador, Xuntian Jiang, Gary P Swain, Maria L Prociuk, Patricia O'Donnell, Caitlin Fitzgerald, Daniel S Ory, Ernesto R Bongarzone, G Diane Shelton, David A Wenger, Charles Vite
Globoid cell leukodystrophy (GLD), or Krabbe disease, is an inherited, neurologic disorder that results from deficiency of a lysosomal enzyme, galactosylceramidase (GALC). Most commonly, deficits of GALC result in widespread central and peripheral nervous system (CNS, PNS) demyelination and death in affected infants typically by 2 years of age. Hematopoietic stem cell transplantation is the current standard of care in children diagnosed prior to symptom onset; however, disease correction is incomplete. Herein we present the first adeno-associated virus (AAV) gene therapy experiments in a naturally occurring canine model of GLD that closely recapitulates the clinical disease progression, neuropathological alterations, and biochemical abnormalities observed in human patients...
January 9, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29304046/eye-tracking-to-explore-attendance-in-health-state-descriptions
#3
Anna Selivanova, Paul F M Krabbe
INTRODUCTION: A crucial assumption in health valuation methods is that respondents pay equal attention to all information components presented in the response task. So far, there is no solid evidence that respondents are fulfilling this condition. The aim of our study is to explore the attendance to various information cues presented in the discrete choice (DC) response tasks. METHODS: Eye tracking was used to study the eye movements and fixations on specific information areas...
2018: PloS One
https://www.readbyqxmd.com/read/29290526/rapid-screening-for-lipid-storage-disorders-using-biochemical-markers-expert-center-data-and-review-of-the-literature
#4
M Voorink-Moret, S M I Goorden, A B P van Kuilenburg, F A Wijburg, J M M Ghauharali-van der Vlugt, F S Beers-Stet, A Zoetekouw, W Kulik, C E M Hollak, F M Vaz
BACKGROUND: In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and genetic studies. New UPLC-MS/MS methods have been developed to measure lysosphingolipids and oxysterols, which, combined with chitotriosidase activity may represent a rapid first tier screening for lipid storage disorders. MATERIAL AND METHODS: A lysosphingolipid panel consisting of lysoglobotriaosylceramide (LysoGb3), lysohexosylceramide (LysoHexCer: both lysoglucosylceramide and lysogalactosylceramide), lysosphingomyelin (LysoSM) and its carboxylated analogue lysosphingomyelin-509 (LysoSM-509) was measured in control subjects and plasma samples of predominantly untreated patients affected with lipid storage disorders (n=74)...
December 22, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29288008/usage-and-survival-implications-of-surgical-staging-of-inguinal-lymph-nodes-in-intermediate-to-high-risk-clinical-localized-penile-cancer-a-propensity-score-matched-analysis
#5
Solomon L Woldu, Bo Ci, Ryan C Hutchinson, Laura-Maria Krabbe, Nirmish Singla, Niccolo M Passoni, Timothy N Clinton, Ganesh V Raj, David S Miller, Arthur I Sagalowsky, Yair Lotan, Yang Xie, Vitaly Margulis, Aditya Bagrodia
OBJECTIVES: To evaluate the usage of surgical staging of inguinal lymph nodes (SSILNs) in the United States for intermediate to high-risk, clinically localized penile squamous cell cancer (SCC), to explore patient and hospital factors associated with omission of this staging, and to evaluate the effect on survival. PATIENTS AND METHODS: Retrospective, observational study using the National Cancer Database from 2004 to 2014 of 1,689 men diagnosed with pT1b-T3, cN0 penile SCC, who by current guidelines should receive SSILNs-either by inguinal lymph node (ILN) dissection or sentinel node biopsy...
December 26, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/29203835/purification-and-functional-comparison-of-nine-human-aquaporins-produced-in-saccharomyces-cerevisiae-for-the-purpose-of-biophysical-characterization
#6
Frederik Bühring Bjørkskov, Simon Lyngaa Krabbe, Casper Normann Nurup, Julie Winkel Missel, Mariana Spulber, Julie Bomholt, Karen Molbaek, Claus Helix-Nielsen, Kamil Gotfryd, Pontus Gourdon, Per Amstrup Pedersen
The sparse number of high-resolution human membrane protein structures severely restricts our comprehension of molecular physiology and ability to exploit rational drug design. In the search for a standardized, cheap and easily handled human membrane protein production platform, we thoroughly investigated the capacity of S. cerevisiae to deliver high yields of prime quality human AQPs, focusing on poorly characterized members including some previously shown to be difficult to isolate. Exploiting GFP labeled forms we comprehensively optimized production and purification procedures resulting in satisfactory yields of all nine AQP targets...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29201062/comparative-analysis-of-spontaneous-and-stimulus-evoked-calcium-transients-in-proliferating-and-differentiating-human-midbrain-derived-stem-cells
#7
Torben Johansen, Christina Krabbe, Sissel Ida Schmidt, Alberto Martínez Serrano, Morten Meyer
Spontaneous cytosolic calcium transients and oscillations have been reported in various tissues of nonhuman and human origin but not in human midbrain-derived stem cells. Using confocal microfluorimetry, we studied spontaneous calcium transients and calcium-regulating mechanisms in a human ventral mesencephalic stem cell line undergoing proliferation and neuronal differentiation. Spontaneous calcium transients were detected in a large fraction of both proliferating (>50%) and differentiating (>55%) cells...
2017: Stem Cells International
https://www.readbyqxmd.com/read/29174478/amygdala-inhibitory-circuits-regulate-associative-fear-conditioning
#8
REVIEW
Sabine Krabbe, Jan Gründemann, Andreas Lüthi
Associative memory formation is essential for an animal's survival by ensuring adaptive behavioral responses in an ever-changing environment. This is particularly important under conditions of immediate threats such as in fear learning. One of the key brain regions involved in associative fear learning is the amygdala. The basolateral amygdala is the main entry site for sensory information to the amygdala complex, and local plasticity in excitatory basolateral amygdala principal neurons is considered to be crucial for learning of conditioned fear responses...
October 14, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#9
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29147857/-quality-standards-for-epidemiologic-cohort-studies-an-evaluated-catalogue-of-requirements-for-the-conduct-and-preparation-of-cohort-studies
#10
Carsten Oliver Schmidt, Christine E M Krabbe, Janka Schössow, Klaus Berger, Cornelia Enzenbach, Panagiotis Kamtsiuris, Gina Schöne, Robin Houben, Christa Meisinger, Fabian Bamberg, Thomas Hendel, Sonja Selder, Michael Nonnemacher, Susanne Moebus, Jürgen Stausberg
BACKGROUND: Cohort studies are a longitudinal observational study type. They are firmly established within epidemiology to assess the course of diseases and risk factors. Yet, standards to describe and evaluate quality characteristics of cohort studies need further development. OBJECTIVE: Within the TMF ("Technologie- und Methodenplattform für die vernetzte medizinische Forschung e. V.") project "Quality management standards in cohort studies", a catalogue of requirements was compiled and evaluated, focusing on the preparation and conduct of epidemiologic cohort studies...
November 16, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/29133936/the-rho-gtpase-signalling-pathway-in-urothelial-carcinoma
#11
REVIEW
Solomon L Woldu, Ryan C Hutchinson, Laura-Maria Krabbe, Oner Sanli, Vitaly Margulis
Urothelial carcinoma remains a clinical challenge: non-muscle-invasive disease has a high rate of recurrence and risk of progression, and outcomes for patients with advanced disease are poor, owing to a lack of effective systemic therapies. The Rho GTPase family of enzymes was first identified >30 years ago and contains >20 members, which are divided into eight subfamilies: Cdc42, Rac, Rho, RhoUV, RhoBTB, RhoDF, RhoH, and Rnd. Rho GTPases are molecular on-off switches, which are increasingly being understood to have a critical role in a number of cellular processes, including cell migration, cell polarity, cell adhesion, cell cycle progression, and regulation of the cytoskeleton...
November 14, 2017: Nature Reviews. Urology
https://www.readbyqxmd.com/read/29120458/precision-newborn-screening-for-lysosomal-disorders
#12
Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, Lea Mott, Dawn S Peck, Stephanie L Nett, Jason S Eckerman, Jean M Lacey, Coleman T Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo
PurposeThe implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.MethodsThe Kentucky Department for Public Health outsourced testing for mucopolysaccharidosis type I (MPS I) and Pompe disease, conditions recently added to the recommended uniform screening panel, plus Krabbe disease, which was added by legislative mandate...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29104809/mycobacterium-intracellulare-infection-mimicking-progression-of-scleroderma
#13
Simon Krabbe, Merete Engelhart, Sören Thybo, Søren Jacobsen
This case report describes a patient with scleroderma who developed Mycobacterium intracellulare infection, which for more than a year mimicked worsening of her connective tissue disorder. The patient was diagnosed with scleroderma based on puffy fingers that developed into sclerodactyly, abnormal nail fold capillaries, interstitial lung disease, Raynaud's phenomenon, esophageal dysmotility, and positivity for rheumatoid factor and anti-SSA antibodies. She developed massive inflammatory changes of the cutis, the subcutis, and the muscle fasciae of the right leg, that after several failed attempts of immunosuppressive treatments were found to be caused by Mycobacterium intracellulare...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/29095858/phospholipase-a2-is-involved-in-galactosylsphingosine-induced-astrocyte-toxicity-neuronal-damage-and-demyelination
#14
Cedric Misslin, Maria Velasco-Estevez, Marie Albert, Sinead A O'Sullivan, Kumlesh K Dev
Krabbe disease is a fatal rare inherited lipid storage disorder affecting 1:100,000 births. This illness is caused by mutations in the galc gene encoding for the enzyme galactosylceramidase (GALC). Dysfunction of GALC has been linked to the toxic build-up of the galactolipid, galactosylsphingosine (psychosine), which induces cell death of oligodendrocytes. Previous studies show that phospholipase A2 (PLA2) may play a role in psychosine induce cell death. Here, we demonstrate that non-selective inhibition of cPLA2/sPLA2 and selective inhibition of cPLA2, but not sPLA2, also attenuates psychosine-induced cell death of human astrocytes...
2017: PloS One
https://www.readbyqxmd.com/read/29079210/differences-at-presentation-and-treatment-of-testicular-cancer-in-hispanic-men-institutional-and-national-hospital-based-analysis
#15
Solomon L Woldu, Ahmet M Aydin, Ashwin V Rao, Ryan C Hutchinson, Nirmish Singla, Timothy N Clinton, Laura-Maria Krabbe, Niccolo M Passoni, Ganesh V Raj, David S Miller, James F Amatruda, Arthur I Sagalowsky, Yair Lotan, Yull Arriaga, Vitaly Margulis, Aditya Bagrodia
OBJECTIVE: To describe epidemiological patterns, stage at presentation, histology, and treatment differences associated with Hispanic men diagnosed with testicular germ cell tumor (TGCT). Hispanics are the fastest growing demographic in the United States and reports suggest that the incidence of TGCT is rising most rapidly in this demographic, yet little is known about TGCTs in Hispanic patients. MATERIAL AND METHODS: We compared patient factors, tumor characteristics, treatment patterns, and outcomes of non-Hispanic white (NHW) vs...
October 24, 2017: Urology
https://www.readbyqxmd.com/read/29022088/enhancement-of-multiple-cranial-and-spinal-nerves-in-vanishing-white-matter-expanding-the-differential-diagnosis
#16
Thomas Jose Eluvathingal Muttikkal, Denia Ramirez Montealegre, Julie Ann Matsumoto
Abnormal cranial or spinal nerve contrast enhancement on MRI in cases of suspected pediatric leukodystrophy is recognized as an important clue to the diagnosis of either metachromatic leukodystrophy or globoid cell leukodystrophy (Krabbe disease). We report a case of genetically confirmed childhood vanishing white matter with enhancement of multiple cranial and spinal nerves in addition to the more typical intracranial findings. This case expands the limited differential diagnosis of cranial nerve or spinal nerve enhancement in cases of suspected leukodystrophy and may aid in more efficient work-up and earlier diagnosis of vanishing white matter...
October 12, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29017192/-horizon-scanning-in-health-care-a-german-perspective
#17
Laura Krabbe, Barbara Buchberger
Background Decision makers in health care act in an area in which expectations increase to make beneficial new technologies available as soon as possible, to protect patients from unsafe or ineffective technologies, and to expedite or decelerate technology diffusion. Horizon Scanning (HS) is a process to identify early new and emerging technologies and to inform about their potential consequences concerning the health care system. Objectives Methods of HS, worldwide existing activities and the status quo in Germany are described...
October 10, 2017: Das Gesundheitswesen
https://www.readbyqxmd.com/read/28975458/integrative-taxonomy-of-anisakid-nematodes-in-stranded-cetaceans-from-brazilian-waters-an-update-on-parasite-s-hosts-and-geographical-records
#18
Maria Isabel N Di Azevedo, Vitor L Carvalho, Alena M Iñiguez
Anisakidae are represented mainly by species of Anisakis Dujardin, 1845, Pseudoterranova Krabbe, 1878, and Contracaecum Railliet and Henry, 1913. Integrative taxonomy, based on morphological and genetic approaches, can provide a precise identification of species, increasing the knowledge of their systematics, biology, and evolution. In this study, integrative taxonomy was applied in order to identify, at generic and/or specific taxonomic level, 245 anisakids from 63 cetaceans of 12 different species, which stranded in the Brazilian coast...
November 2017: Parasitology Research
https://www.readbyqxmd.com/read/28935185/impact-of-hospital-case-volume-on-testicular-cancer-outcomes-and-practice-patterns
#19
Solomon L Woldu, Justin T Matulay, Timothy N Clinton, Nirmish Singla, Laura-Maria Krabbe, Ryan C Hutchinson, Arthur Sagalowsky, Yair Lotan, Vitaly Margulis, Aditya Bagrodia
BACKGROUND: Given the rarity of testicular germ cell tumors (TGCTs) and the complex aspects of management, we evaluate the effect of hospital TGCT case volume on overall survival outcomes and practice patterns. MATERIALS AND METHODS: The National Cancer Database was queried for patients diagnosed with seminoma or nonseminomatous germ cell tumor (NSGCT). Hospitals were classified by case volume as high (99th percentile, ≥26.1 cases annually), high-intermediate (95-99th percentile, 14...
September 18, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28934212/outcome-of-papillary-versus-clear-cell-renal-cell-carcinoma-varies-significantly-in-non-metastatic-disease
#20
MULTICENTER STUDY
Nina Wagener, Dominic Edelmann, Axel Benner, Richard Zigeuner, Hendrik Borgmann, Ingmar Wolff, Laura M Krabbe, Mireia Musquera, Paolo Dell'Oglio, Umberto Capitanio, Tobias Klatte, Luca Cindolo, Matthias May, Sabine D Brookman-May
Renal cell carcinoma (RCC) comprises a heterogenous group of tumors. Traditionally, papillary RCC (pRCC) is associated with a favorable outcome compared to clear cell RCC (ccRCC), while other series report equivalent or worse prognosis. In this paper we comparatively evaluate outcome of pRCC versus ccRCC in two large multi-institutional databases (cohort study), including distribution of pRCC subtypes 1 and 2. Retrospective data of 1,943 surgically treated pRCC patients from 17 European/ North American centers between 1984-2015 were compared to 5,600 ccRCC patients from a database comprising 11 European/ North American centers (1984-2011)...
2017: PloS One
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