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https://www.readbyqxmd.com/read/28453651/a-panoromic-view-of-personal-cancer-genomes
#1
Lidia Mateo, Oriol Guitart-Pla, Carles Pons, Miquel Duran-Frigola, Roberto Mosca, Patrick Aloy
The massive molecular profiling of thousands of cancer patients has led to the identification of many tumor type specific driver genes. However, only a few (or none) of them are present in each individual tumor and, to enable precision oncology, we need to interpret the alterations found in a single patient. Cancer PanorOmics (http://panoromics.irbbarcelona.org) is a web-based resource to contextualize genomic variations detected in a personal cancer genome within the body of clinical and scientific evidence available for 26 tumor types, offering complementary cohort- and patient-centric views...
April 27, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28448978/quantitative-evaluation-of-brain-stem-atrophy-using-magnetic-resonance-imaging-in-adult-patients-with-alexander-disease
#2
Tomokatsu Yoshida, Rei Yasuda, Ikuko Mizuta, Masanori Nakagawa, Toshiki Mizuno
Brain MRI in adult patients with Alexander disease (AxD) mainly shows atrophy in the medulla oblongata. However, currently there is no quantitative standard for assessing this atrophy. In this study, we quantitatively evaluated the brain stem of AxD patients with glial fibrillary acidic protein (GFAP) mutation using conventional MRI to evaluate its usefulness as an aid to diagnosing AxD in daily clinical practice. Nineteen AxD patients with GFAP mutation were compared with 14 patients negative for GFAP mutation in whom AxD was suspected due to "atrophy of the medulla oblongata...
April 28, 2017: European Neurology
https://www.readbyqxmd.com/read/28446211/spontaneous-migraine-attack-causes-alterations-in-default-mode-network-connectivity-a-resting-state-fmri-case-report
#3
Andrea Edit Edes, Lajos Rudolf Kozak, Mate Magyar, Terezia Zsombok, Gyongyi Kokonyei, Gyorgy Bagdy, Gabriella Juhasz
BACKGROUND: Although migraine is one of the most investigated neurologic disorders, we do not have a perfect neuroimaging biomarker for its pathophysiology. One option to improve our knowledge is to study resting-state functional connectivity in and out of headache pain. However, our understanding of the functional connectivity changes during spontaneous migraine attack is partial and incomplete. CASE PRESENTATION: Using resting-state functional magnetic resonance imaging we assessed a 24-year old woman affected by migraine without aura at two different times: during a spontaneous migraine attack and in interictal phase...
April 26, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28444810/large-differences-in-proportions-of-harmful-and-benign-amino-acid-substitutions-between-proteins-and-diseases
#4
Gerard C P Schaafsma, Mauno Vihinen
Genes and proteins are known to have differences in their sensitivity to alterations. Despite numerous sequencing studies, proportions of harmful and harmless substitutions are not known for proteins and groups of proteins. To address this question, we predicted the outcome for all possible single amino acid substitutions in nine representative protein groups by using the PON-P2 method. The effects on 996 proteins were studied and vast differences were noticed. Proteins in the cancer group harbour the largest proportion of harmful variants (42...
April 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28442926/hypothermia-due-to-limbic-system-involvement-and-longitudinal-myelitis-in-a-case-of-japanese-encephalitis-a-case-report-from-india
#5
Santhosh Narayanan, N K Thulaseedharan, Gomathy Subramaniam, Geetha Panarkandy, V K Shameer, Arathi Narayanan
Japanese encephalitis (JE) is an infectious encephalitis prevalent in Asia. It usually presents with fever, headache, convulsions and extrapyramidal symptoms. Limbic system involvement and hypothermia though common in autoimmune encephalitis have never been reported in JE. We report a case of an 18-year-old girl with no previous comorbidities who presented to us with a history of fever and headache for 1 week duration. She developed bilateral lateral rectus palsy and asymmetric flaccid weakness of all four limbs, after 2 days of admission, which was followed by altered sensorium and intermittent hypothermia...
2017: International Journal of General Medicine
https://www.readbyqxmd.com/read/28438224/early-strong-intrathecal-inflammation-in-cerebellar-type-multiple-system-atrophy-by-cerebrospinal-fluid-cytokine-chemokine-profiles-a-case-control-study
#6
Ryo Yamasaki, Hiroo Yamaguchi, Takuya Matsushita, Takayuki Fujii, Akio Hiwatashi, Jun-Ichi Kira
BACKGROUND: The pathology of multiple system atrophy cerebellar-type (MSA-C) includes glial inflammation; however, cerebrospinal fluid (CSF) inflammatory cytokine profiles have not been investigated. In this study, we determined CSF cytokine/chemokine/growth factor profiles in MSA-C and compared them with those in hereditary spinocerebellar ataxia (SCA). METHODS: We collected clinical data and CSF from 20 MSA-C patients, 12 hereditary SCA patients, and 15 patients with other non-inflammatory neurological diseases (OND), and measured 27 cytokines/chemokines/growth factors using a multiplexed fluorescent bead-based immunoassay...
April 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28437822/osmotic-demyelination-syndrome-due-to-severe-hyponatremia-mimicking-hypoxic-encephalopathy
#7
Felix Wicke, Sasha Moreitz, Stefan Weidauer
Hyponatremia and its rapid correction is a well-known cause of osmotic demyelination most commonly affecting the pons. We report on a case of severe hyponatremia likely due to psychogenic polydipsia resulting in hypotonic hyperhydration with resulting cortical laminar necrosis on initial imaging, mimicking hypoxic brain damage. Pontine myelinolysis became apparent on follow-up imaging, illustrating the diagnostic challenges of extrapontine manifestations of severe hyponatremia.
April 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/28437774/bacterial-community-dynamics-and-functional-variation-during-the-long-term-decomposition-of-cyanobacterial-blooms-in-vitro
#8
Limei Shi, Yaxin Huang, Min Zhang, Yang Yu, Yaping Lu, Fanxiang Kong
Cyanobacterial blooms drastically influence carbon and nutrient cycling in eutrophic freshwater lakes. To understand the mineralization process of cyanobacteria-derived particulate organic matter (CyanPOM), the aerobic degradation of cyanobacterial blooms dominated by Microcystis sp. was investigated over a 95-day microcosm experiment. Approximately 91%, 95% and 83% of the initial particulate organic carbon (POC), particulate organic nitrogen (PON), and particulate organic phosphorus (POP) were decomposed, respectively...
April 21, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28435997/assessment-of-organic-pollution-of-an-industrial-river-by-synchronous-fluorescence-and-uv-vis-spectroscopy-the-fensch-river-ne-france
#9
Aziz Assaad, Steve Pontvianne, Marie-Noëlle Pons
To rapidly monitor the surface water quality in terms of organic pollution of an industrial river undergoing restoration, optical methods (UV-visible spectrometry and fluorescence) were applied in parallel to classical physical-chemical analyses. UV-visible spectra were analyzed using the maximum of the second derivative at 225 nm (related to nitrates), specific absorbance at 254 nm (SUVA254), and the spectral slope between 275 and 295 nm (S 275-295) (related to the aromaticity and molecular weight of dissolved organic carbon)...
May 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/28435982/-changes-in-biological-functions-of-high-density-lipoprotein-after-abnormal-modification
#10
Hang Qu, Yang Yu, Shu-Cun Qin, Guo-Hua Song
High-density lipoprotein (HDL) is composed of apolipoproteins, lipids and functional proteins. HDL protects against atherosclerosis (AS) by reverse cholesterol transport (RCT). HDL inhibits the lipid oxidation, inflammation and restores endothelial function. During systemic inflammation or metabolic disorders, HDL can be modified abnormally and converted to a dysfunctional type, which results in the loss of anti-inflammatory factors including apolipoprotein A-I (apoA-I), paraoxonase (PON) and platelet activating factor acetylhydrolase (PAF-AH), and gains of pro-inflammatory factors such as serum amyloid A (SAA), triglyceride (TG) and oxidative lipid...
April 25, 2017: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/28434664/marine-debris-in-beaches-of-the-southwestern-atlantic-an-assessment-of-their-abundance-and-mass-at-different-spatial-scales-in-northern-coastal-argentina
#11
Maria Eugenia Becherucci, Alan Federico Rosenthal, Juan Pablo Seco Pon
Argentina is currently undergoing an intensive development of coastal-oriented tourism due to the temperate climate and coastal sceneries of the Southwestern Atlantic and particularly its wide ocean-open sandy beaches, which may turn into an important contributor of marine debris to the beaches. This study was designed to assess at four spatial scales (i) the variation of the abundance and mass of marine debris and (ii) the composition and sources of these items in sandy-tourist beaches of coastal zones of the province of Buenos Aires, in northern Argentina...
April 20, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28433113/wilson-disease-brain-pathology
#12
Aurélia Poujois, Jacqueline Mikol, France Woimant
In Wilson disease (WD), brain cellular damage is thought to be due to copper deposition. Striatal lesions are the most characteristic lesions found in the brain of patients with neurologic symptoms, as emphasized in the initial reports of S.A.K. Wilson. WD brain lesions can be more diffuse, including in the pons, midbrain, thalamus, dentate nucleus, and, less frequently, corpus callosum and cortex. In rare cases, extensive cortical-subcortical lesions have been reported. Increased cellularity is noted in the lesions due to the proliferation of modified astrocytes named Alzheimer types of glia and specific cells, called Opalski cells, that are characteristic of WD...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28430860/increased-brainstem-perfusion-but-no-blood-brain-barrier-disruption-during-attacks-of-migraine-with-aura
#13
Anders Hougaard, Faisal M Amin, Casper E Christensen, Samaira Younis, Frauke Wolfram, Stig P Cramer, Henrik B W Larsson, Messoud Ashina
The migraine aura is characterized by transient focal cortical disturbances causing dramatic neurological symptoms that are usually followed by migraine headache. It is currently not understood how the aura symptoms are related to the headache phase of migraine. Animal studies suggest that cortical spreading depression, the likely mechanism of migraine aura, causes disruption of the blood-brain barrier and noxious stimulation of trigeminal afferents leading to activation of brainstem nuclei and triggering of migraine headache...
April 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28429032/obstructive-sleep-apnoea-and-type-2-diabetes-mellitus-are-they-connected
#14
Yingjuan Mok, Chee Wei Tan, Hang Siang Wong, Choon How How, Kah Leong Alvin Tan, Pon Poh Hsu
Obstructive sleep apnoea (OSA), a sleep-related breathing condition, is diagnosed based on a patient's apnoea-hypopnea index from a sleep study, and the presence or absence of symptoms. Diabetes mellitus (DM) and OSA share a significant common risk factor, obesity, with all three conditions contributing to the risk of developing cardiovascular diseases. The pathophysiological links between OSA and DM are still unclear, but intermittent hypoxia may be an important mechanism. More awareness of the possible link between OSA and DM is needed, given their increasing prevalence locally and worldwide...
April 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/28428207/mr-imaging-grading-system-for-skull-base-chordoma
#15
K Tian, L Wang, J Ma, K Wang, D Li, J Du, G Jia, Z Wu, J Zhang
BACKGROUND AND PURPOSE: Skull base chordoma has been widely studied in recent years, however, imaging characteristics of this tumor have not been well elaborated. The purpose of this study was to establish an MR imaging grading system for skull base chordoma. MATERIALS AND METHODS: In this study, 156 patients with skull base chordomas were retrospectively assessed. Tumor-to-pons signal intensity ratios were calculated from pretreatment MR images RT1 (ratio of tumor to pons signal intensity in T1 FLAIR sequence), RT2 (ratio of tumor to pons signal intensity in T2 sequence) and REN (ratio of tumor to pons signal intensity in enhanced T1 FLAIR sequence), and significant ratios for overall survival and progression-free survival were selected to establish a grading system...
April 20, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28427011/biosensors-for-the-monitoring-of-harmful-algal-blooms
#16
REVIEW
Daniel A McPartlin, Jonathan H Loftus, Aoife S Crawley, Joe Silke, Caroline S Murphy, Richard J O'Kennedy
Harmful algal blooms (HABs) are a major global concern due to their propensity to cause environmental damage, healthcare issues and economic losses. In particular, the presence of toxic phytoplankton is a cause for concern. Current HAB monitoring programs often involve laborious laboratory-based analysis at a high cost and with long turnaround times. The latter also hampers the potential to develop accurate and reliable models that can predict HAB occurrence. However, a promising solution for this issue may be in the form of remotely deployed biosensors, which can rapidly and continuously measure algal and toxin levels at the point-of-need (PON), at a low cost...
April 17, 2017: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/28420958/electrical-stimulation-of-afferent-pathways-for-the-suppression-of-pathological-tremor
#17
Jakob L Dideriksen, Christopher M Laine, Strahinja Dosen, Silvia Muceli, Eduardo Rocon, José L Pons, Julian Benito-Leon, Dario Farina
Pathological tremors are involuntary oscillatory movements which cannot be fully attenuated using conventional treatments. For this reason, several studies have investigated the use of neuromuscular electrical stimulation for tremor suppression. In a recent study, however, we found that electrical stimulation below the motor threshold also suppressed tremor, indicating involvement of afferent pathways. In this study, we further explored this possibility by systematically investigating how tremor suppression by afferent stimulation depends on the stimulation settings...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28420257/gestational-diabetes-management-using-smart-mobile-telemedicine
#18
Mercedes Rigla, Iñaki Martínez-Sarriegui, Gema García-Sáez, Belén Pons, Maria Elena Hernando
Gestational diabetes (GDM) burden has been increasing progressively over the past years. Knowing that intrauterine exposure to maternal diabetes confers high risk for macrosomia as well as for future type 2 diabetes and obesity of the offspring, health care organizations try to provide effective control in spite of the limited resources. Artificial-intelligence-augmented telemedicine has been proposed as a helpful tool to facilitate an efficient widespread medical assistance to GDM. The aim of the study we present was to test the feasibility and acceptance of a mobile decision-support system for GDM, developed in the seventh framework program MobiGuide Project, which includes computer-interpretable clinical practice guidelines, access to data from the electronic health record as well as from glucose, blood pressure, and activity sensors...
April 1, 2017: Journal of Diabetes Science and Technology
https://www.readbyqxmd.com/read/28420071/pleuropulmonary-involvement-in-patients-with-systemic-lupus-erythematosus-from-a-latin-american-inception-cohort-gladel
#19
M J Haye Salinas, F Caeiro, V Saurit, A Alvarellos, D Wojdyla, H R Scherbarth, A C de O E Silva, J C Tavares Brenol, L T Lavras Costallat, O J Neira, A Iglesias Gamarra, G Vásquez, G A Reyes Llerena, L A Barile-Fabris, L H Silveira, M J Sauza Del Pozo, E M Acevedo Vásquez, J L Alfaro Lozano, M H Esteva Spinetti, G S Alarcón, B A Pons-Estel
Objectives The objectives of this study were to examine the demographic and clinical features associated with the occurrence of pleuropulmonary manifestations, the predictive factors of their occurrence and their impact on mortality in systemic lupus erythematosus (SLE) patients. Materials and methods The association of pleuropulmonary manifestations with demographic and clinical features, the predictive factors of their occurrence and their impact on mortality were examined in GLADEL patients by appropriate univariable and multivariable analyses...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28416460/regional-distribution-of-cholinergic-catecholaminergic-serotonergic-and-orexinergic-neurons-in-the-brain-of-two-carnivore-species-the-feliform-banded-mongoose-mungos-mungo-and-the-caniform-domestic-ferret-mustela-putorius-furo
#20
Sashrika Pillay, Adhil Bhagwandin, Mads F Bertelsen, Nina Patzke, Gerhard Engler, Andreas K Engel, Paul R Manger
The nuclear organization of the cholinergic, catecholaminergic, serotonergic and orexinergic neurons in the brains of two species of carnivore, the banded mongoose (Mungos mungo) and domestic ferret (Mustela putorius furo), is presented. The banded mongoose belongs to the feliform suborder and the domestic ferret to the caniform suborder, having last shared a common ancestor approximately 53 million years ago; however, they have a very similar overall morphology and life history, presenting an interesting opportunity to examine the extent of evolutionary plasticity in these systems...
April 14, 2017: Journal of Chemical Neuroanatomy
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