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https://www.readbyqxmd.com/read/28531236/psychosine-enhances-the-shedding-of-membrane-microvesicles-implications-in-demyelination-in-krabbe-s-disease
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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)...
April 24, 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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28331342/spotlight-on-atezolizumab-and-its-potential-in-the-treatment-of-advanced-urothelial-bladder-cancer
#13
REVIEW
Ahmet Murat Aydin, Solomon L Woldu, Ryan C Hutchinson, Martin Boegemann, Aditya Bagrodia, Yair Lotan, Vitaly Margulis, Laura-Maria Krabbe
Metastatic urothelial carcinoma of the bladder is an aggressive malignancy with poor prognosis, reflecting a lack of effective systemic therapies. The current standard of care includes multiagent platinum-based chemotherapy; however a majority of patients do not respond to treatment and most eventually succumb to disease. Recently, renewed interest in immunotherapy in the form of immune-checkpoint inhibition has gained widespread attention for a number of malignancies. Atezolizumab, an anti-PDL1 antibody, has been shown to be effective in a subset of patients previously treated with or unfit for platinum-based chemotherapy, and has shown durable responses with a good tolerability profile...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#14
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28253865/measurement-properties-of-the-eq-5d-across-four-major-geriatric-conditions-findings-from-topics-mds
#15
Jennifer E Lutomski, Paul F M Krabbe, Nienke Bleijenberg, Jeanett Blom, Gertrudis I J M Kempen, Janet MacNeil-Vroomen, Maaike E Muntinga, Ewout Steyerburg, Marcel G M Olde-Rikkert, René J F Melis
BACKGROUND: As populations age, chronic geriatric conditions linked to progressive organ failure jeopardize health-related quality of life (HRQoL). Thus, this research assessed the validity and applicability of the EQ-5D (a common HRQoL instrument) across four major chronic geriatric conditions: hearing issues, joint damage, urinary incontinence, or dizziness with falls. METHODS: The study sample comprised 25,637 community-dwelling persons aged 65 years and older residing in the Netherlands (Data source: TOPICS-MDS, www...
March 3, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28208664/the-role-of-the-neutrophil-to-lymphocyte-ratio-for-survival-outcomes-in-patients-with-metastatic-castration-resistant-prostate-cancer-treated-with-abiraterone
#16
Martin Boegemann, Katrin Schlack, Stefan Thomes, Julie Steinestel, Kambiz Rahbar, Axel Semjonow, Andres Jan Schrader, Martin Aringer, Laura-Maria Krabbe
The purpose of this study was to examine the prognostic capability of baseline neutrophil-to-lymphocyte-ratio (NLR) and NLR-change under Abiraterone in metastatic castration-resistant prostate cancer patients. The impact of baseline NLR and change after eight weeks of treatment on progression-free survival (PFS) and overall survival (OS) was analyzed using Kaplan-Meier-estimates and Cox-regression. 79 men with baseline NLR <5 and 17 with NLR >5 were analyzed. In baseline analysis of PFS NLR >5 was associated with non-significantly shorter median PFS (five versus 10 months) (HR: 1...
February 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28193891/mapping-evaporative-water-loss-in-desert-passerines-reveals-an-expanding-threat-of-lethal-dehydration
#17
Thomas P Albright, Denis Mutiibwa, Alexander R Gerson, Eric Krabbe Smith, William A Talbot, Jacqueline J O'Neill, Andrew E McKechnie, Blair O Wolf
Extreme high environmental temperatures produce a variety of consequences for wildlife, including mass die-offs. Heat waves are increasing in frequency, intensity, and extent, and are projected to increase further under climate change. However, the spatial and temporal dynamics of die-off risk are poorly understood. Here, we examine the effects of heat waves on evaporative water loss (EWL) and survival in five desert passerine birds across the southwestern United States using a combination of physiological data, mechanistically informed models, and hourly geospatial temperature data...
February 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28170189/mesenchymal-stem-cells-yield-transient-improvements-in-motor-function-in-an-infant-rhesus-macaque-with-severe-early-onset-krabbe-disease
#18
Irina A Isakova, Kate C Baker, Jason Dufour, Donald G Phinney
Krabbe disease, or globoid cell leukodystrophy, is a rare disorder caused by deficient galactosylceramidase activity and loss of myelin-forming oligodendrocytes, resulting in progressive demyelination and severely impaired motor function. Disease symptoms in humans appear within 3-6 months of age (early infantile) and manifest as marked irritability, spasticity, and seizures. The disease is often fatal by the second year of life, with few effective treatment options. Herein we evaluated the therapeutic potential of mesenchymal stem cells (MSCs) administered intracranially to a 1-month-old rhesus macaque diagnosed with severe early-onset Krabbe disease that displayed neurologic and behavioral symptoms similar to those of human patients...
January 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28168127/krabbe-disease-report-of-a-rare-lipid-storage-and-neurodegenerative-disorder
#19
Pratyusha Pavuluri, Sabitha Vadakedath, Rajkumar Gundu, Sushmitha Uppulety, Venkataramana Kandi
Krabbe disease is a rare (one in 100,000 births) autosomal recessive condition, usually noticed among children. It causes sphingolipidosis (dysfunctional metabolism of sphingolipids) and leads to fatal degenerative changes affecting the myelin sheath of the nervous system. We report a case of a six-year-old male child who presented with symptoms of muscle spasticity and irritability. Diagnosis of this disease can only be made with clinical suspicion. Laboratory diagnosis includes brain magnetic resonance imaging (MRI), magnetic resonance (MR) spectroscopy, biochemical analysis of cerebrospinal fluid, and genetic analysis for detecting mutation in genes coding for galactosyl cerebroside (GALC)...
January 1, 2017: Curēus
https://www.readbyqxmd.com/read/28145830/corrigendum
#20
(no author information available yet)
Hinderink JB, Krabbe PFM, van den Broek P. Development and application of a health-related quality-of-life instrument for adults with cochlear implants: The Nijmegen Cochlear Implant Questionnaire. Otolaryngol Head Neck Surg. 2000;123:756-765. (Original DOI: 10.1067/mhn.2000.108203 ).
February 2017: Otolaryngology—Head and Neck Surgery
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