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https://www.readbyqxmd.com/read/28103109/impaired-spermatogenesis-in-the-twitcher-mouse-a-morphological-evaluation-from-the-seminiferous-tubules-to-epididymal-transit
#1
Alice Luddi, Martina Gori, Laura Crifasi, Camilla Marrocco, Giuseppe Belmonte, Elvira Costantino-Ceccarini, Piomboni Paola
: Spermatogenesis is a complex process of proliferation and differentiation during male germ cell development whereby undifferentiated spermatogonial germ cells evolve into maturing spermatozoa. In this developmental process the interactions between different cell types are finely regulated, hence any disruption in these relationships leads to male infertility. The twitcher mouse, the murine model of Krabbe disease, is characterized by deficiency of galactosylceramidase, an enzyme also involved in the metabolism of the galactosyl-alkyl-acyl-glycerol, the precursor of sulfogalactosyl-alkyl-acyl-glycerol, the most abundant glycolipid in spermatozoa...
January 19, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28095876/multi-criteria-decision-analysis-mcda-testing-a-proposed-mcda-framework-for-orphan-drugs
#2
C Schey, P F M Krabbe, M J Postma, M P Connolly
BACKGROUND: Since the introduction of the orphan drugs legislation in Europe, it has been suggested that the general method of assessing drugs for reimbursement is not necessarily suitable for orphan drugs. The National Institute for Health and Clinical Excellence indicated that several criteria other than cost and efficacy could be considered in reimbursement decisions for orphan drugs. This study sought to explore the multi-criteria decision analysis (MCDA) framework proposed by (Orphanet J Rare Dis 7:74, 2012) to a range of orphan drugs, with a view to comparing the aggregate scores to the average annual cost per patient for each product, and thus establishing the merit of MCDA as a tool for assessing the value of orphan drugs in relation to their pricings...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28075543/prognostic-value-of-tissue-based-biomarker-signature-in-clear-cell-renal-cell-carcinoma
#3
Ahmed Q Haddad, Jun-Hang Luo, Laura-Maria Krabbe, Oussama Darwish, Bishoy Gayed, Ramy Youssef, Payal Kapur, Dinesh Rakheja, Yair Lotan, Arthur Sagalowsky, Vitaly Margulis
OBJECTIVE: To improve risk stratification for recurrence prognostication in localized clear cell renal cell carcinoma (ccRCC) patients. PATIENTS AND METHODS: 367 patients with non-metastatic ccRCC were included. The cohort was divided into a training and validation set. Using tissue microarrays, immunostaining was performed for 24 biomarkers representative of key pathways in ccRCC. Using LASSO Cox regression, we identified several markers which were used to construct a risk classifier for risk of disease recurrence...
January 11, 2017: BJU International
https://www.readbyqxmd.com/read/28052886/intestinal-rehabilitation-for-children-with-intestinal-failure-is-cost-effective-a-simulation-study
#4
Henk Groen, Esther G Neelis, Marten J Poley, Joanne F Olieman, René Scheenstra, Paul Fm Krabbe, Gerard Dijkstra, Edmond Hhm Rings
BACKGROUND: Children with intestinal failure (IF) depend on parenteral nutrition (PN). The goal in the treatment of IF is to wean children off PN through intestinal rehabilitation (IR). Although the healthcare burden of IF is enormous, to our knowledge there has been no previous cost-effectiveness analysis in pediatric IF including IR. OBJECTIVE: We sought to determine the cost-effectiveness of IR in terms of costs and life-years. DESIGN: We simulated the treatment of IF in children in a discrete-event model...
January 4, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28050682/competition-and-quality-indicators-in-the-health-care-sector-empirical-evidence-from-the-dutch-hospital-sector
#5
R R Croes, Y J F M Krabbe-Alkemade, M C Mikkers
There is much debate about the effect of competition in healthcare and especially the effect of competition on the quality of healthcare, although empirical evidence on this subject is mixed. The Netherlands provides an interesting case in this debate. The Dutch system could be characterized as a system involving managed competition and mandatory healthcare insurance. Information about the quality of care provided by hospitals has been publicly available since 2008. In this paper, we evaluate the relationship between quality scores for three diagnosis groups and the market power indicators of hospitals...
January 3, 2017: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/28045982/fecal-bile-salts-and-the-development-of-necrotizing-enterocolitis-in-preterm-infants
#6
Christian V Hulzebos, Anne G J F van Zoonen, Jan B F Hulscher, Trijntje E Schat, Elisabeth M W Kooi, Martijn Koehorst, Renze Boverhof, Paul F M Krabbe, Albert K Groen, Henkjan J Verkade
BACKGROUND: Intestinal bile salts (BSs) may be implicated in NEC development. We hypothesized that fecal BS levels are higher in preterm infants at risk for NEC. METHODS: We compared the composition and concentration of fecal BSs in ten preterm infants who developed NEC (Bell's Stage ≥ II) with twenty matched control infants without NEC. Conjugated and unconjugated fecal BSs were measured after birth (T1) and twice prior to NEC (T2, T3). Data are presented as medians and interquartile ranges...
2017: PloS One
https://www.readbyqxmd.com/read/28000364/a-specific-activity-based-probe-to-monitor-family-gh59-galactosylceramidase-the-enzyme-deficient-in-krabbe-disease
#7
André Ra Marques, Lianne I Willems, Daniela Herrera Moro, Bogdan I Florea, Saskia Scheij, Roelof Ottenhoff, Cindy van Roomen, Marri Verhoek, Jessica K Nelson, Wouter W Kallemeijn, Anna Biela-Banas, Olivier R Martin, M Begoña Cachón-González, Nee Na Kim, Timothy M Cox, Rolf G Boot, Herman S Overkleeft, Johannes M F G Aerts
Galactosylceramidase (GALC) is the lysosomal β-galactosidase responsible for the hydrolysis of galactosylceramide. Inherited deficiency in GALC causes Krabbe disease, a devastating neurological disorder characterized by accumulation of galactosylceramide and its deacylated counterpart, the toxic sphingoid base galactosylsphingosine (psychosine). We report the design and application of a fluorescently tagged activity-based probe (ABP) for the sensitive and specific labeling of active GALC molecules from various species...
December 20, 2016: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/27993207/gallbladder-abnormalities-in-children-with-metachromatic-leukodystrophy
#8
Jina Kim, Zhifei Sun, Brian Ezekian, Gary R Schooler, Vinod K Prasad, Joanne Kurtzberg, Henry E Rice, Elisabeth T Tracy
BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disease that leads to neurological deterioration and visceral involvement, including sulphatide deposition in the gallbladder wall. Using our institution's extensive experience in treating MLD, we examined the incidence of gallbladder abnormalities in the largest cohort of children with MLD to date. METHODS: We conducted a retrospective review of all children with MLD, adrenoleukodystrophy (ALD), or Krabbe disease who underwent hematopoietic stem cell transplantation (HSCT) at our institution between 1994 and 2015...
February 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/27977664/lysosomal-re-acidification-prevents-lysosphingolipid-induced-lysosomal-impairment-and-cellular-toxicity
#9
Christopher J Folts, Nicole Scott-Hewitt, Christoph Pröschel, Margot Mayer-Pröschel, Mark Noble
Neurodegenerative lysosomal storage disorders (LSDs) are severe and untreatable, and mechanisms underlying cellular dysfunction are poorly understood. We found that toxic lipids relevant to three different LSDs disrupt multiple lysosomal and other cellular functions. Unbiased drug discovery revealed several structurally distinct protective compounds, approved for other uses, that prevent lysosomal and cellular toxicities of these lipids. Toxic lipids and protective agents show unexpected convergence on control of lysosomal pH and re-acidification as a critical component of toxicity and protection...
December 2016: PLoS Biology
https://www.readbyqxmd.com/read/27973216/translation-adaptation-and-validation-of-the-diabetes-distress-scale-for-indonesian-diabetic-outpatients-with-various-types-of-complications
#10
B Arifin, D Perwitasari, J Atthobari, Q Cao, P F Krabbe, M J Postma
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27920424/ultrastructural-characterization-of-the-lower-motor-system-in-a-mouse-model-of-krabbe-disease
#11
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
#12
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...
January 2017: 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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 handling of pure oxygen. The commercially available, nonprecious 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...
November 18, 2016: Journal of Organic Chemistry
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