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Christina lampe

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https://www.readbyqxmd.com/read/29846416/in-vivo-confocal-microstructural-analysis-of-corneas-presenting-kayser-fleischer-rings-in-patients-with-wilson-s-disease
#1
Dimitar Ivanov Grupchev, Mladena Nikolaeva Radeva, Miglena Georgieva, Christina N Grupcheva
PURPOSE: To evaluate microstructural differences between corneas with and without Kayser-Fleischer rings in age-matched subjects with Wilson's disease with neurological symptoms, using confocal laser scanning microscopy. METHODS: The study included 12 subjects with Wilson's disease with neurological symptoms. Twelve corneas presented clinically with classic Kayser-Fleischer rings, visible on slit lamp examination; the other 12 served as controls. The subjects underwent a comprehensive clinical examination...
April 2018: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/29804213/spinal-cord-issues-in-adult-patients-with-mps-transition-of-care-survey
#2
Kemel A Ghotme, Fernando Alvarado-Gomez, Christina Lampe, Klane K White, Martha Solano-Villareal, Roberto Giugliani, Paul R Harmatz
PURPOSE: This study aims to raise awareness of the need for research and appropriate guidelines for managing spinal cord issues in adult patients with mucopolysaccharidosis (MPS) and transition of these patients from pediatric to adult care. METHODS: Pediatric/adult neurosurgeons, orthopedic spine surgeons, and treating physicians with expertise in metabolic disorders and spinal cord issues were invited to complete a survey to assess their experience with spinal cord problems in MPS and their opinion on transitioning routes from pediatric to adult care...
May 27, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29797470/easy-to-use-algorithm-would-provide-faster-diagnoses-for-mucopolysaccharidosis-type-i-and-enable-patients-to-receive-earlier-treatment
#3
Anna Tylki-Szymańska, Linda De Meirleir, Maja Di Rocco, Waseem M Fathalla, Nathalie Guffon, Christina Lampe, Allan M Lund, Rossella Parini, Frits A Wijburg, Jiri Zeman, Maurizio Scarpa
AIM: The aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I). METHODS: An international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed real-world clinical cases, selected key signs or symptoms based on their prevalence and specificity and reached consensus about the algorithm. The algorithm was retrospectively tested...
May 24, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29708259/roll-to-roll-fabrication-of-integrated-pdms-paper-microfluidics-for-nucleic-acid-amplification
#4
Jussi Hiltunen, Christina Liedert, Marianne Hiltunen, Olli-Heikki Huttunen, Johanna Hiitola-Keinänen, Sanna Aikio, Mikko Harjanne, Marika Kurkinen, Leena Hakalahti, Luke P Lee
Microfluidic-based integrated molecular diagnostic systems, which are automated, sensitive, specific, user-friendly, robust, rapid, easy-to-use, and portable, can revolutionize future medicine. Current research and development largely relies on polydimethylsiloxane (PDMS) to fabricate microfluidic devices. Since the transition from the proof-of-principle phase to clinical studies requires a vast number of integrated microfluidic devices, there is a need for a high-volume manufacturing method of silicone-based microfluidics...
April 30, 2018: Lab on a Chip
https://www.readbyqxmd.com/read/29649608/stand-alone-craniocervical-decompression-is-feasible-in-children-with-mucopolysaccharidosis-type-i-iva-and-vi
#5
Harald Krenzlin, Tan Ta-Chih, Christina Lampe, Christian Lampe, Markus Knuf, Peter Horn, Manfred Schwarz
BACKGROUND CONTEXT: In patients with mucopolysaccharidosis (MPS), glycosaminoglycan deposits in the dura mater and supporting ligaments cause spinal cord compression and consecutive myelopathy, predominantly at the craniocervical junction. Disease characteristics of craniocervical stenosis (CCS) in patients with MPS differ profoundly from other hereditary and degenerative forms. Because of high periprocedural morbidity and mortality, patients with MPS pose a substantial challenge to the inexperienced medical care provider...
April 9, 2018: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/29560455/motor-deficits-following-dorsal-corticospinal-tract-transection-in-rats-voluntary-versus-skilled-locomotion-readouts
#6
Lara Bieler, Lukas Grassner, Pia Zaunmair, Christina Kreutzer, Lukas Lampe, Eugen Trinka, Julia Marschallinger, Ludwig Aigner, Sebastien Couillard-Despres
Following spinal cord injury, severe deficits result from damages to ascending and descending tracts, such as the corticospinal tract (CST) which is highly relevant for the motor execution in humans. Unfortunately, no curative treatment is available and intensive efforts are deployed in animal models, such as the CST transection model, to identify interventions providing functional regeneration after spinal cord injury. The CatWalk XT is a system for multi-parameter gait analysis of voluntary locomotion. In this study, the performance of the CatWalk XT for monitoring of functional deficits associated with dorsal CST lesion in rats was compared to skilled locomotion tests...
February 2018: Heliyon
https://www.readbyqxmd.com/read/29285819/the-xanthomonas-effector-xopl-uncovers-the-role-of-microtubules-in-stromule-extension-and-dynamics-in-nicotiana-benthamiana
#7
Jessica L Erickson, Norman Adlung, Christina Lampe, Ulla Bonas, Martin H Schattat
Xanthomonas campestris pv. vesicatoria type III-secreted effectors were screened for candidates influencing plant cell processes relevant to the formation and maintenance of stromules in Nicotiana benthamiana lower leaf epidermis. Transient expression of XopL, a unique type of E3 ubiquitin ligase, led to a nearly complete elimination of stromules and the relocation of plastids to the nucleus. Further characterization of XopL revealed that the E3 ligase activity is essential for the two plastid phenotypes. In contrast to the XopL wild type, a mutant XopL lacking E3 ligase activity specifically localized to microtubules...
March 2018: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29170079/practical-management-of-behavioral-problems-in-mucopolysaccharidoses-disorders
#8
REVIEW
Maria L Escolar, Simon A Jones, Elsa G Shapiro, Dafne D G Horovitz, Christina Lampe, Hernán Amartino
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. Excessive GAG storage can lead to a variety of somatic manifestations as well as primary and secondary neurological symptoms. Behavioral problems (like hyperactivity, attention difficulties, and severe frustration) and sleeping problems are typical primary neurological symptoms of MPS caused by GAG accumulation in neurons, and are frequently observed in patients with MPS I, II, III, and VII...
December 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29153846/surgical-management-of-neurological-manifestations-of-mucopolysaccharidosis-disorders
#9
REVIEW
Tord D Alden, Hernán Amartino, Amauri Dalla Corte, Christina Lampe, Paul R Harmatz, Leonardo Vedolin
The mucopolysaccharidosis (MPS) disorders are ultra-rare lysosomal storage disorders associated with progressive accumulation of glycosaminoglycans (GAGs) in cells and tissues throughout the body. Clinical manifestations and progression rates vary widely across and within the different types of MPS. Neurological symptoms occur frequently, and may result directly from brain damage caused by infiltration of GAGs, or develop secondary to somatic manifestations such as spinal cord compression, hydrocephalus, and peripheral nerve entrapment...
December 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28603410/full-thickness-macular-hole-formation-following-anti-vegf-injections-for-neovascular-age-related-macular-degeneration
#10
Stamatina A Kabanarou, Tina Xirou, George Mangouritsas, Christina Garnavou-Xirou, Eirini Boutouri, Ilias Gkizis, Irini Chatziralli
PURPOSE: Macular hole (MH) is part of a group of age-related degenerative diseases characterized by pathology of vitreomacular interface. Similarly, neovascular age-related macular degeneration (nAMD) affects older patients and is a leading cause of irreversible visual loss. The purpose of this case series is to describe the development of full-thickness MH in patients with nAMD, following antivascular endothelial growth factor (anti-VEGF) treatment. METHODS: Participants in this case series were four patients with nAMD, who received anti-VEGF injections with variable therapeutic response to treatment...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28464188/-lysosomal-storage-diseases-challenges-in-multiprofessional-patient-care-with-enzyme-replacement-therapy
#11
Anibh Martin Das, Florian Lagler, Michael Beck, Maurizio Scarpa, Christina Lampe
Background Due to their rarity studies in (ultra-) rare diseases are difficult. Only for a minority of these diseases causal therapies are available. Development and production of enzyme replacement therapies (ERT) for example are challenging and expensive. The number of patients is low, costs per patient are high. We will focus on the challenges of providing long-term ERT to patients with lysosomal storage diseases (LSD) in an out- and inpatient setting based on a literature search in Pubmed and own experience...
May 2, 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28408707/admixture-mapping-of-subclinical-atherosclerosis-and-subsequent-clinical-events-among-african-americans-in-2-large-cohort-studies
#12
Aditi Shendre, Howard Wiener, Marguerite R Irvin, Degui Zhi, Nita A Limdi, Edgar T Overton, Christina L Wassel, Jasmin Divers, Jerome I Rotter, Wendy S Post, Sadeep Shrestha
BACKGROUND: Local ancestry may contribute to the disproportionate burden of subclinical and clinical cardiovascular disease among admixed African Americans compared with other populations, suggesting a rationale for admixture mapping. METHODS AND RESULTS: We estimated local European ancestry (LEA) using Local Ancestry inference in adMixed Populations using Linkage Disequilibrium method (LAMP-LD) and evaluated the association with common carotid artery intima-media thickness (cCIMT) using multivariable linear regression analysis among 1554 African Americans from MESA (Multi-Ethnic Study of Atherosclerosis)...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28196403/morphologic-patterns-formed-by-the-anomalous-fibers-occurring-along-the-anterior-capsule-of-the-crystalline-lens-in-people-with-the-long-anterior-zonule-trait
#13
Daniel K Roberts, Yongyi Yang, Christina E Morettin, Tricia L Newman, Mary F Roberts, Jacob T Wilensky
People with the long anterior zonule (LAZ) trait, which may have prevalence near 2%, have zonular fibers that extend more central than usual along the anterior capsule of the crystalline lens. The anomalous fibers can be observed in vivo with clinical slit lamp biomicroscopy after pharmacologic pupil dilation, and although minimally studied, the LAZ trait may have importance to glaucoma, retinal degeneration, and cataract surgery. To further characterize LAZ morphology, a custom computer program was used to trace LAZ fibers seen on retro-illumination photos acquired during previous study at an academic, urban eye care facility in Chicago, IL...
July 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28183348/optimized-creation-of-glioblastoma-patient-derived-xenografts-for-use-in-preclinical-studies
#14
Doreen William, Christina Susanne Mullins, Björn Schneider, Andrea Orthmann, Nora Lamp, Mathias Krohn, Annika Hoffmann, Carl-Friedrich Classen, Michael Linnebacher
BACKGROUND: Glioblastoma multiforme (GBM) is the most common and lethal brain tumor in adults, highlighting the need for novel treatment strategies. Patient derived xenografts (PDX) represent a valuable tool to accomplish this task. METHODS: PDX were established by implanting GBM tissue subcutaneously. Engraftment success was compared between NMRI Foxn1(nu) and NOD/SCID as well as between fresh and cryopreserved tissue. Established PDX were analyzed histologically and molecularly...
February 9, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28093642/the-ethical-framework-for-performing-research-with-rare-inherited-neurometabolic-disease-patients
#15
REVIEW
Viviana Giannuzzi, Hugo Devlieger, Lucia Margari, Viveca Lena Odlind, Lamis Ragab, Cinzia Maria Bellettato, Francesca D'Avanzo, Christina Lampe, Linda Cassis, Elisenda Cortès-Saladelafont, Ángels Garcia Cazorla, Ivo Barić, Ljerka Cvitanović-Šojat, Ksenija Fumić, Christine I Dali, Franco Bartoloni, Fedele Bonifazi, Maurizio Scarpa, Adriana Ceci
The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide 'consent'; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical research involving these patients and to evaluate if these cover the ethical issues...
March 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27992230/ph-and-potential-transients-of-the-bc-1-complex-co-reconstituted-in-proteo-lipobeads-with-the-reaction-center-from-rb-sphaeroides
#16
Andreas F Geiss, Raghav Khandelwal, Dieter Baurecht, Christina Bliem, Ciril Reiner-Rozman, Michael Boersch, G Matthias Ullmann, Leslie M Loew, Renate L C Naumann
His-tag technology is employed to bind membrane proteins, such as the bc1 complex and the reaction center (RC) from Rhodobacter sphaeroides, to spherical as well as planar surfaces in a strict orientation. Subsequently, the spherical and planar surfaces are subjected to in situ dialysis to form proteo-lipobeads (PLBs) and protein-tethered bilayer membranes, respectively. PLBs based on Ni-nitrileotriacetic acid-functionalized agarose beads that have diameters ranging from 50 to 150 μm are used to assess proton release and membrane potential parameters by confocal laser-scanning microscopy...
January 12, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/27809869/erratum-to-review-and-evaluation-of-the-methodological-quality-of-the-existing-guidelines-and-recommendations-for-inherited-neurometabolic-disorders
#17
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M Mar O'Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I Dali, Francesca D'Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
No abstract text is available yet for this article.
November 3, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27610627/heart-and-cardiovascular-involvement-in-patients-with-mucopolysaccharidosis-type-iva-morquio-a-syndrome
#18
Christoph Kampmann, Tariq Abu-Tair, Seyfullah Gökce, Christina Lampe, Jörg Reinke, Eugen Mengel, Julia B Hennermann, Christiane M Wiethoff
BACKGROUND: Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with MPS IVA and developed a possible patho-mechanism for cardiovascular deterioration during anesthesia...
2016: PloS One
https://www.readbyqxmd.com/read/27561270/health-related-quality-of-life-in-mucopolysaccharidosis-looking-beyond-biomedical-issues
#19
REVIEW
Christian J Hendriksz, Kenneth I Berger, Christina Lampe, Susanne G Kircher, Paul J Orchard, Rebecca Southall, Sarah Long, Stephen Sande, Jeffrey I Gold
The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders have triggered the search for clinically relevant biomarkers and clinical markers associated with treatment efficacy in populations and individuals. However, biomedical measures do not tell the whole story when characterizing a complex chronic disorder such as MPS. Health-related quality of life (HRQoL) tools that utilize patient reported outcomes to address patient parameters such as symptoms (pain, fatigue, psychological health), functioning (activity and limitations), or quality of life, have been used to supplement traditional biomedical endpoints...
August 26, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27432811/the-lived-environment-life-quality-model-for-institutionalized-people-with-dementia
#20
Wendy Wood, Jenna L Lampe, Christina A Logan, Amy R Metcalfe, Beth E Hoesly
BACKGROUND: There is a need for a conceptual practice model that explicates ecological complexities involved in using occupation to optimize the quality of life of institutionalized people with dementia. PURPOSE: This study aimed to prepare the Lived Environment Life Quality Model, a dementia-specific conceptual practice model of occupational therapy in institutional facilities, for publication and application to practice. METHOD: Interviews and focus groups with six expert occupational therapists were subjected to qualitative content analysis to confirm, disconfirm, and further develop the model...
February 2017: Canadian Journal of Occupational Therapy. Revue Canadienne D'ergothérapie
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