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https://www.readbyqxmd.com/read/29133595/targeted-next-gen-sequencing-for-detecting-mll-gene-fusions-in-leukemia
#1
Sadia Afrin, Christine Rc Zhang, Claus Meyer, Caedyn L Stinson, Thy Pham, Timothy Jc Bruxner, Nicola C Venn, Toby N Trahair, Rosemary Sutton, Rolf Marschalek, J Lynn Fink, Andrew S Moore
Mixed Lineage Leukemia (MLL) gene rearrangements characterize approximately 70% of infant and 10% of adult and therapy-related leukemia. Conventional clinical diagnostics, including cytogenetics and fluorescence in situ hybridization (FISH) fail to detect MLL translocation partner genes (TPGs) in many patients. Long-Distance Inverse (LDI)-PCR, the 'gold standard' technique that is used to characterize MLL breakpoints is laborious and requires a large input of genomic DNA (gDNA). To overcome the limitations of current techniques, a targeted Next-Generation Sequencing (NGS) approach that requires low RNA input was tested...
November 13, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29132622/know-thy-ehealth-user-development-of-biopsychosocial-personas-from-a-study-of-older-adults-with-heart-failure
#2
Richard J Holden, Anand Kulanthaivel, Saptarshi Purkayastha, Kathryn M Goggins, Sunil Kripalani
BACKGROUND: Personas are a canonical user-centered design method increasingly used in health informatics research. Personas-empirically-derived user archetypes-can be used by eHealth designers to gain a robust understanding of their target end users such as patients. OBJECTIVE: To develop biopsychosocial personas of older patients with heart failure using quantitative analysis of survey data. METHOD: Data were collected using standardized surveys and medical record abstraction from 32 older adults with heart failure recently hospitalized for acute heart failure exacerbation...
December 2017: International Journal of Medical Informatics
https://www.readbyqxmd.com/read/29127354/clinical-and-molecular-characterization-of-pmp22-point-mutations-in-taiwanese-patients-with-inherited-neuropathy
#3
Yi-Chu Liao, Pei-Chien Tsai, Thy-Sheng Lin, Cheng-Tsung Hsiao, Nai-Chen Chao, Kon-Ping Lin, Yi-Chung Lee
Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22 in Han-Chinese population residing in Taiwan, 53 patients with molecularly unassigned demyelinating CMT and 52 patients with HNPP-like neuropathy of unknown genetic causes were screened for PMP22 mutations by Sanger sequencing. Three point mutations were identified in four patients with demyelinating CMT, including c...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29124997/perinatal-exposure-to-environmental-tobacco-smoke-is-associated-with-changes-in-dna-methylation-that-precede-the-adult-onset-of-lung-disease-in-a-mouse-model
#4
Elizabeth Cole, Traci A Brown, Kent E Pinkerton, Britten Postma, Keegan Malany, Mihi Yang, Yang Jee Kim, Raymond F Hamilton, Andrij Holian, Yoon Hee Cho
Prenatal and early-life environmental tobacco smoke (ETS) exposure can induce epigenetic alterations associated with inflammation and respiratory disease. The objective of this study was to address the long-term epigenetic consequences of perinatal ETS exposure on latent respiratory disease risk, which are still largely unknown. C57BL/6 mice were exposed to prenatal and early-life ETS; offspring lung pathology, global DNA, and gene-specific methylation were measured at two adult ages. Significant alterations in global DNA methylation and promoter methylation of IFN-γ and Thy-1 were found in ETS-exposed offspring at 10-12 and 20 weeks of age...
August 2017: Inhalation Toxicology
https://www.readbyqxmd.com/read/29124322/air-breathing-changes-the-pattern-for-temperature-induced-ph-regulation-in-a-bimodal-breathing-teleost
#5
Christian Damsgaard, Mikkel Thy Thomsen, Mark Bayley, Tobias Wang
It is well established that ectothermic vertebrates regulate a lower arterial pH when temperature increases. Typically, water-breathers reduce arterial pH by altering plasma [HCO3(-)], whilst air-breathers rely on ventilatory adjustments to modulate arterial PCO2. However, no studies have investigated whether the shift from water- to air-breathing within a species changes the mechanisms for temperature-induced pH regulation. Here, we used the striped catfish Pangasianodon hypophthalmus to examine how pH regulation is affected by water- versus air-breathing, since P...
November 9, 2017: Journal of Comparative Physiology. B, Biochemical, Systemic, and Environmental Physiology
https://www.readbyqxmd.com/read/29121672/beyond-genome-wide-scan-association-of-a-cis-regulatory-ncr3-variant-with-mild-malaria-in-a-population-living-in-the-republic-of-congo
#6
Sabrina Baaklini, Sarwat Afridi, Thy Ngoc Nguyen, Felix Koukouikila-Koussounda, Mathieu Ndounga, Jean Imbert, Magali Torres, Lydie Pradel, Francine Ntoumi, Pascal Rihet
Linkage studies have revealed a linkage of mild malaria to chromosome 6p21 that contains the NCR3 gene encoding a natural killer cell receptor, whereas NCR3-412G>C (rs2736191) located in its promoter region was found to be associated with malaria in Burkina Faso. Here we confirmed the association of rs2736191 with mild malaria in a Congolese cohort and investigated its potential cis-regulatory effect. Luciferase assay results indicated that rs2736191-G allele had a significantly increased promoter activity compared to rs2736191-C allele...
2017: PloS One
https://www.readbyqxmd.com/read/29112734/memantine-prevents-acute-radiation-induced-toxicities-at-hippocampal-excitatory-synapses
#7
Joseph G Duman, Jeffrey Dinh, Wei Zhou, Henry Cham, Vasilis C Mavratsas, Matea Paveškovic, Shalaka Mulherkar, Susan L McGovern, Kimberley F Tolias, David R Grosshans
Background: Memantine has shown clinical utility in preventing radiation-induced cognitive impairment, but the mechanisms underlying its protective effects remain unknown. We hypothesized that abnormal glutamate signaling causes radiation-induced abnormalities in neuronal structure and that memantine prevents synaptic toxicity. Methods: Hippocampal cultures expressing eGFP were irradiated or sham-treated and their dendritic spine morphology assessed at acute (minutes) and later (days) times using high-resolution confocal microscopy...
November 2, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/29111831/comparison-of-different-cell-culture-media-in-the-model-of-the-isolated-and-superfused-bovine-retina-investigating-the-limits-of-more-physiological-perfusion-solutions
#8
José Hurst, Milda Vitkute, Kathleen Hofmann, Sebastian Müller, Marina Löscher, Karl-Ulrich Bartz-Schmidt, Martin S Spitzer, Sven Schnichels, Kai Januschowski
PURPOSE: The isolated superfused retina is a standardized tool in ophthalmological research. However, stable electroretinogram (ERG) responses can only be obtained for around eight hours; therefore, limiting its use. The aim of this study was to evaluate the short-term potential of different cell culture media and to promote long-term testing based on the results obtained. MATERIALS AND METHODS: For the experimental procedure bovine retinae were prepared and perfused with the standard Sickel solution and an ERG was performed...
November 7, 2017: Current Eye Research
https://www.readbyqxmd.com/read/29107340/langerhans-cell-histiocytosis-a-neoplastic-disorder-driven-by-ras-erk-pathway-mutations
#9
REVIEW
Gary Tran, Thy N Huynh, Amy S Paller
Langerhans cell histiocytosis (LCH) is a disorder of myeloid neoplasia of dendritic cells that affects 1 in 200,000 children <15 years of age and even fewer adults. LCH presents with a spectrum of clinical manifestations. High-risk stratification is reserved for infiltration of blood, spleen, liver, and lungs. After decades of debate on the disease pathogenesis, a neoplastic mechanism is now favored on the basis of LCH cell clonality, rare cases of familial clustering, and recent evidence of mutations involving the Ras/Raf/MEK (mitogen-activated protein kinase kinase)/ERK (extracellular signal-regulated kinase) pathway in lesional biopsy specimens...
October 26, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29067314/sar110894-a-potent-histamine-h3-receptor-antagonist-displays-disease-modifying-activity-in-a-transgenic-mouse-model-of-tauopathy
#10
Philippe Delay-Goyet, Véronique Blanchard, Nathalie Schussler, Mati Lopez-Grancha, Jean Ménager, Véronique Mary, Eric Sultan, Armelle Buzy, Jean-Claude Guillemot, Jeanne Stemmelin, Philippe Bertrand, Thomas Rooney, Laurent Pradier, Pascal Barnéoud
INTRODUCTION: Tau hyperphosphorylation and neurofibrillary tangles are histopathologic hallmarks of tauopathies. Histamine H3-receptor antagonists have been proposed to reduce tau hyperphosphorylation in preclinical models. METHODS: We evaluated the ability of SAR110894, a selective histamine H3-receptor antagonist, to inhibit tau pathology and prevent cognitive deficits in a tau transgenic mouse model (THY-Tau22). RESULTS: SAR110894 treatment for 6 months (but not 2 weeks) in THY-Tau22 mice decreased both tau hyperphosphorylation at pSer396-pSer404 (AD2 signal) in the hippocampus and the number of AT8 (pSer199/202-Thr205) positive cells in the cortex and decreased the formation of neurofibrillary tangles in the cortex, hippocampus, and amygdala...
November 2016: Alzheimer's & Dementia: Translational Research & Clinical Interventions
https://www.readbyqxmd.com/read/29066275/the-spectrum-of-manifestations-in-dsp-desmoplakin-sr6-domain-mutations-immunophenotyping-and-response-to-ustekinumab
#11
Amy S Paller, Tali Czarnowicki, Yael Renert-Yuval, Kristen Holland, Thy Huynh, Muriel Sadlier, Maeve A McAleer, Gary Tran, Gabrielle C Geddes, Alan D Irvine, Emma Guttman-Yassky
BACKGROUND: The immune abnormalities underlying the ichthyoses are poorly understood. OBJECTIVE: To determine the immunophenotype of an ichthyosis resulting from mutations in the spectrin repeat 6 (SR6) domain of DSP, the gene encoding desmoplakin, and to target therapy based on the molecular pathogenesis. METHODS: Immunophenotyping was performed using the blood and skin of a girl with SR6 region DSP mutations causing erythroderma/ichthyosis and cardiomyopathy...
October 21, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29065394/long-non-coding-rna-malat1-mediates-retinal-ganglion-cell-apoptosis-through-the-pi3k-akt-signaling-pathway-in-rats-with-glaucoma
#12
Hai-Bo Li, Qi-Sheng You, Li-Xin Xu, Li-Xin Sun, Aman Shah Abdul Majid, Xiao-Bo Xia, Dan Ji
BACKGROUND/AIMS: The aim of the present study is to investigate the effect of long non-coding RNA-MALAT1 (LncRNA-MALAT1) on retinal ganglion cell (RGC) apoptosis mediated by the PI3K/Akt signaling pathway in rats with glaucoma. METHODS: RGCs were isolated and cultured, and monoclonal antibodies (anti-rat Thy-1, Brn3a and RBPMS) were examined by immunocytochemistry. An overexpression vector MALAT1-RNA activation (RNAa), gene knockout vector MALAT1-RNA interference (RNAi), and control vector MALAT1-negative control (NC) were constructed...
October 24, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29046498/immunophenotypical-analysis-of-pancreatic-interstitial-cells-in-the-developing-rat-pancreas-and-myofibroblasts-in-the-fibrotic-pancreas-in-dogs-and-cats
#13
Ai Hashimoto, Mohammad Rabiul Karim, Takeshi Izawa, Mitsuru Kuwamura, Jyoji Yamate
Pancreatic fibrosis develops as the results of the activity of myofibroblasts capable of producing collagens. The myofibroblasts derive from pancreatic interstitial cells, including pancreatic stellate cells (PSCs), which can express glial fibrillary acidic protein (GFAP). First, we investigated the expression patterns of vimentin, desmin, α-smooth muscle actin (α-SMA), Thy-1, and GFAP in the developing rat pancreas (in fetuses at 18 and 20 days, neonates from 1 to 21 days, and adults). Interstitial cells in the developing pancreas expressed vimentin, desmin, GFAP, and Thy-1 at varying degrees; interestingly, the reactivity for desmin and vimentin was the highest in fetuses...
October 17, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29045622/international-exchanges-in-primary-care-learning-from-thy-neighbour
#14
Bernadeta Bridgwood, John Park, Claire Hawcroft, Natasha Kay, Eugene Tang
This systematic review describes how international exchange programmes in primary care have been received and evaluated. Electronic databases (MEDLINE, Embase, PsycINFO, EBM reviews, CAB abstracts and PubMED) were searched to identify articles where the main focus of the study was exchanges undertaken in primary care/family medicine until March 2016. Articles were included if they (i) discussed participant exchanges in primary care; (ii) presented associated outcome data-this included (a) individual/group experience of exchange; (b) mechanism of exchange and (c) observations during the exchange...
October 14, 2017: Family Practice
https://www.readbyqxmd.com/read/29035639/correction-to-thyroid-2016-26-1343-1421-doi-10-1089-thy-2016-0229
#15
(no author information available yet)
No abstract text is available yet for this article.
November 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29034214/pathogenic-cd8-t-cells-cause-increased-levels-of-vegf-a-in-experimental-malaria-associated-acute-respiratory-distress-syndrome-but-therapeutic-vegfr-inhibition-is-not-effective
#16
Thao-Thy Pham, Melissa Verheijen, Leen Vandermosten, Katrien Deroost, Sofie Knoops, Kathleen Van den Eynde, Louis Boon, Chris J Janse, Ghislain Opdenakker, Philippe E Van den Steen
Malaria is a severe disease and kills over 400,000 people each year. Malarial complications are the main cause of death and include cerebral malaria and malaria-associated acute respiratory distress syndrome (MA-ARDS). Despite antimalarial treatment, lethality rates of MA-ARDS are still between 20 and 80%. Patients develop pulmonary edema with hemorrhages and leukocyte extravasation in the lungs. The vascular endothelial growth factor-A (VEGF-A) and the placental growth factor (PlGF) are vascular permeability factors and may be involved in the disruption of the alveolar-capillary membrane, leading to alveolar edema...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28984647/functional-genomics-of-stromal-cells-in-chronic-inflammatory-diseases
#17
Kamil Slowikowski, Kevin Wei, Michael B Brenner, Soumya Raychaudhuri
PURPOSE OF REVIEW: Stroma is a broad term referring to the connective tissue matrix in which other cells reside. It is composed of diverse cell types with functions such as extracellular matrix maintenance, blood and lymph vessel development, and effector cell recruitment. The tissue microenvironment is determined by the molecular characteristics and relative abundances of different stromal cells such as fibroblasts, endothelial cells, pericytes, and mesenchymal precursor cells. Stromal cell heterogeneity is explained by embryonic developmental lineage, stages of differentiation to other cell types, and activation states...
October 4, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28973746/analysis-of-melanopsin-gene-expression-in-the-rabbit-retina-at-different-ages
#18
M M Lira-Carrera, B E Gutiérrez-Amavizca, L J Álvarez-Araujo, M Aguirre-Ramírez, J A Pérez-León
Melanopsin is the photopigment of intrinsically photosensitive retinal ganglion cells that mediate non-visual responses to light. The aim of this study was to describe and analyze melanopsin gene expression in the rabbit retina at different ages and compare its expression with the prototypic gene of retinal ganglion cells (Thy-1 gene). Expression levels of OPN4, Thy-1, and GADPH genes were measured by real-time PCR at 3, 4, 8, 11, 12, 17, 19, 20, 23, 27, 32, and 47 postnatal days. We also regrouped the days before and after day 12 of life (pre-photic and post-photic stage, respectively)...
September 27, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28971594/frailty-thy-name-is%C3%A2
#19
Glenn Arendts, Ellen Burkett, Carolyn Hullick, Christopher R Carpenter, Guruprasad Nagaraj, Renuka Visvanathan
No abstract text is available yet for this article.
October 3, 2017: Emergency Medicine Australasia: EMA
https://www.readbyqxmd.com/read/28962574/%C3%AE-v%C3%AE-3-integrin-regulates-astrocyte-reactivity
#20
Raúl Lagos-Cabré, Alvaro Alvarez, Milene Kong, Francesca Burgos-Bravo, Areli Cárdenas, Edgardo Rojas-Mancilla, Ramón Pérez-Nuñez, Rodrigo Herrera-Molina, Fabiola Rojas, Pascal Schneider, Mario Herrera-Marschitz, Andrew F G Quest, Brigitte van Zundert, Lisette Leyton
BACKGROUND: Neuroinflammation involves cytokine release, astrocyte reactivity and migration. Neuronal Thy-1 promotes DITNC1 astrocyte migration by engaging αVβ3 Integrin and Syndecan-4. Primary astrocytes express low levels of these receptors and are unresponsive to Thy-1; thus, inflammation and astrocyte reactivity might be necessary for Thy-1-induced responses. METHODS: Wild-type rat astrocytes (TNF-activated) or from human SOD1(G93A) transgenic mice (a neurodegenerative disease model) were used to evaluate cell migration, Thy-1 receptor levels, signaling molecules, and reactivity markers...
September 29, 2017: Journal of Neuroinflammation
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