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https://www.readbyqxmd.com/read/28641335/jumping-mechanography-as-a-complementary-testing-tool-for-motor-function-in-children-with-hereditary-motor-and-sensory-neuropathy
#1
Katharina Vill, Lena Ille, Astrid Blaschek, Rainer Rawer, Mirjam N Landgraf, Lucia Gerstl, Sebastian A Schroeder, Wolfgang Müller-Felber
No abstract text is available yet for this article.
June 22, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28641109/rare-copy-number-variants-in-nrxn1-and-cntn6-increase-risk-for-tourette-syndrome
#2
Alden Y Huang, Dongmei Yu, Lea K Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul Sandor, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Nöthen, Johannes Hebebrand, Robert A King, Yves Dion, Guy Rouleau, Cathy L Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J Lyon, William M McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R Batterson, Renata Rizzo, Danielle C Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A Malaty, Michael S Okun, Douglas W Woods, Elliott Rees, Carlos N Pato, Michele T Pato, James A Knowles, Danielle Posthuma, David L Pauls, Nancy J Cox, Benjamin M Neale, Nelson B Freimer, Peristera Paschou, Carol A Mathews, Jeremiah M Scharf, Giovanni Coppola
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28640877/identification-of-c-ebp%C3%AE-as-a-novel-target-of-the-hpv8-e6-protein-regulating-mir-203-in-human-keratinocytes
#3
Anna M Marthaler, Marta Podgorska, Pascal Feld, Alina Fingerle, Katrin Knerr-Rupp, Friedrich Grässer, Hans Smola, Klaus Roemer, Elke Ebert, Yoo-Jin Kim, Rainer M Bohle, Cornelia S L Müller, Jörg Reichrath, Thomas Vogt, Magdalena Malejczyk, Sławomir Majewski, Sigrun Smola
Patients suffering from Epidermodysplasia verruciformis (EV), a rare inherited skin disease, display a particular susceptibility to persistent infection with cutaneous genus beta-human papillomavirus (beta-HPV), such as HPV type 8. They have a high risk to develop non-melanoma skin cancer at sun-exposed sites. In various models evidence is emerging that cutaneous HPV E6 proteins disturb epidermal homeostasis and support carcinogenesis, however, the underlying mechanisms are not fully understood as yet. In this study we demonstrate that microRNA-203 (miR-203), a key regulator of epidermal proliferation and differentiation, is strongly down-regulated in HPV8-positive EV-lesions...
June 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28640849/motility-in-blastogregarines-apicomplexa-native-and-drug-induced-organisation-of-siedleckia-nematoides-cytoskeletal-elements
#4
Andrea Valigurová, Naděžda Vaškovicová, Andrei Diakin, Gita G Paskerova, Timur G Simdyanov, Magdaléna Kováčiková
Recent studies on motility of Apicomplexa concur with the so-called glideosome concept applied for apicomplexan zoites, describing a unique mechanism of substrate-dependent gliding motility facilitated by a conserved form of actomyosin motor and subpellicular microtubules. In contrast, the gregarines and blastogregarines exhibit different modes and mechanisms of motility, correlating with diverse modifications of their cortex. This study focuses on the motility and cytoskeleton of the blastogregarine Siedleckia nematoides Caullery et Mesnil, 1898 parasitising the polychaete Scoloplos cf...
2017: PloS One
https://www.readbyqxmd.com/read/28640821/noise-reduction-in-single-time-frame-optical-dna-maps
#5
Paola C Torche, Vilhelm Müller, Fredrik Westerlund, Tobias Ambjörnsson
In optical DNA mapping technologies sequence-specific intensity variations (DNA barcodes) along stretched and stained DNA molecules are produced. These "fingerprints" of the underlying DNA sequence have a resolution of the order one kilobasepairs and the stretching of the DNA molecules are performed by surface adsorption or nano-channel setups. A post-processing challenge for nano-channel based methods, due to local and global random movement of the DNA molecule during imaging, is how to align different time frames in order to produce reproducible time-averaged DNA barcodes...
2017: PloS One
https://www.readbyqxmd.com/read/28640615/reduction-of-dinitrogen-to-ammonia-catalyzed-by-molybdenum-diamido-complexes
#6
Lasantha A Wickramasinghe, Richard R Schrock, Peter Müller, Takaya Ogawa
[Ar2N3]Mo(N)(O-t-Bu) ([Ar2N3]2- = [2,6-(ArNCH2)2NC5H3]2-, where Ar = 2,6-diisopropylphenyl), which contains a conformationally rigid pyridine-based diamido ligand, can be prepared from Li2[Ar2N3] and (t-BuO)3Mo(N). [Ar2N3]Mo(N)(O-t-Bu) serves as a cata-lyst precursor for the catalytic reduction of molecular nitrogen to ammonia in diethyl ether between -78 °C and 22 °C in a batch-wise manner with CoCp*2 as the electron source and Ph2NH2OTf as the proton source. Up to ~10 equivalents of ammonia can be formed per Mo with a maximum efficiency in electrons of ~43%...
June 22, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28637203/morphological-diversity-strongly-constrains-synaptic-connectivity-and-plasticity
#7
Michael W Reimann, Anna-Lena Horlemann, Srikanth Ramaswamy, Eilif B Muller, Henry Markram
Synaptic connectivity between neurons is naturally constrained by the anatomical overlap of neuronal arbors, the space on the axon available for synapses, and by physiological mechanisms that form synapses at a subset of potential synapse locations. What is not known is how these constraints impact emergent connectivity in a circuit with diverse morphologies. We investigated the role of morphological diversity within and across neuronal types on emergent connectivity in a model of neocortical microcircuitry...
June 20, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28636972/assessing-landowners-attitudes-toward-wild-hogs-and-support-for-control-options
#8
Carlotta A Caplenor, Neelam C Poudyal, Lisa I Muller, Chuck Yoest
Wild hogs (Sus scrofa) are an invasive species with destructive habits, particularly rooting and wallowing, which can directly impact agricultural crops, pasture land, and water quality. Considering wild hogs are widely dispersed across the landscape, they are extremely difficult to control. Disagreements can arise among different stakeholders over whether and how their populations should be managed. The purpose of this article was to examine Tennessee, United States landowners' attitudes toward wild hogs, to compare acceptability of control methods, and to evaluate factors significantly influencing public support for regulations to control wild hogs...
June 18, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/28636265/switch-of-c-h-activation-mechanism-for-full-selectivity-control-in-cobalt-iii-catalyzed-c-h-alkylations
#9
Daniel Zell, Markus Bursch, Valentin Müller, Stefan Grimme, Lutz Ackermann
Selectivity control in hydroarylation-based C-H alkylation has been dominated by steric interactions. In contrast, we unravel a conceptually distinct strategy that exploits the programmed switch in the C-H activation mechanism by means of cobalt catalysis, setting the stage for expedient C-H alkylations with unactivated alkenes. Detailed mechanistic studies provided compelling evidence for a programmable switch in the C-H activation mechanism from a linear-selective ligand-to-ligand hydrogen transfer (LLHT) to a branched-selective base-assisted internal electrophilic-type substitution (BIES)...
June 21, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28636084/co-morbidities-and-bleeding-in-elderly-patients-with-haemophilia-a-survey-of-the-german-austrian-and-swiss-society-of-thrombosis-and-haemostasis-research-gth
#10
W Miesbach, S-E Reitter-Pfoertner, R Klamroth, F Langer, H-H Wolf, A Tiede, B Siegmund, U Scholz, P R Müller, H Eichler, I Pabinger
BACKGROUND: Nowadays patients with haemophilia survive longer due to improvements in haemophilia care. It has been hypothesized that the bleeding type and frequency may vary with age and are influenced by co-morbidities and co-medication in elderly patients. OBJECTIVES: To investigate a large group of patients older than 60 years of age with haemophilia concerning haemophilia treatment, bleeding pattern changes, co-morbidities, co-medication, bleeding sites and patient mortality...
June 21, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28635637/a-short-term-biological-indicator-for-long-term-kidney-damage-after-radionuclide-therapy-in-mice
#11
Giovanni Pellegrini, Klaudia Siwowska, Stephanie Haller, Daniel J Antoine, Roger Schibli, Anja Kipar, Cristina Müller
Folate receptor (FR)-targeted radionuclide therapy using folate radioconjugates is of interest due to the expression of the FR in a variety of tumor types. The high renal accumulation of radiofolates presents, however, a risk of radionephropathy. A potential option to address this challenge would be to use radioprotectants, such as amifostine. Methods for early detection of kidney damage that-in this case-cannot be predicted based on dose estimations, would facilitate the development of novel therapies. The aim of this study was, therefore, to assess potentially changing levels of plasma and urine biomarkers and to determine DNA damage at an early stage after radiofolate application...
June 21, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28635083/clinically-distinct-trajectories-of-fatigue-and-their-longitudinal-relationship-with-the-disturbance-of-personal-goals-following-a-cancer-diagnosis
#12
Fabiola Müller, Marrit A Tuinman, Moniek Janse, Josué Almansa, Mirjam A G Sprangers, Ans Smink, Adelita V Ranchor, Joke Fleer, Mariët Hagedoorn
OBJECTIVES: Most studies on fatigue in patients with cancer aggregate its prevalence and severity on a group level, ignoring the possibility that subgroups of patients may differ widely in their development of fatigue. This study aimed to identify subgroups of patients with clinically distinct trajectories of fatigue from diagnosis to 18 months post-diagnosis. As fatigue might trigger goal disturbance, the study also identified trajectories of concrete and abstract goal disturbance and longitudinally examined their co-occurrence with fatigue...
June 21, 2017: British Journal of Health Psychology
https://www.readbyqxmd.com/read/28634842/evaluation-of-open-and-minimally-invasive-adrenalectomy-a-systematic-review-and-network-meta-analysis
#13
Patrick Heger, Pascal Probst, Felix J Hüttner, Käthe Gooßen, Tanja Proctor, Beat P Müller-Stich, Oliver Strobel, Markus W Büchler, Markus K Diener
BACKGROUND: Adrenalectomy can be performed via open and various minimally invasive approaches. The aim of this systematic review was to summarize the current evidence on surgical techniques of adrenalectomy. METHODS: Systematic literature searches (MEDLINE, EMBASE, Web of Science, Cochrane Library) were conducted to identify randomized controlled trials (RCTs) and controlled clinical trials (CCTs) comparing at least two surgical procedures for adrenalectomy. Statistical analyses were performed, and meta-analyses were conducted...
June 20, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28634698/association-between-characteristics-of-pain-and-stiffness-and-the-functional-status-of-patients-with-incident-polymyalgia-rheumatica-from-primary-care
#14
A Cawley, J A Prior, S Muller, T Helliwell, S L Hider, B Dasgupta, K Barraclough, C D Mallen
This paper aims to examine the relationship between different characteristics of pain and stiffness and the functional status of patients with newly diagnosed polymyalgia rheumatica (PMR). Baseline analysis of an inception cohort study was conducted. Patients aged ≥18 years, with a new diagnosis of PMR were recruited from 382 English general practices. Participants were mailed a baseline questionnaire, including separate pain and stiffness manikins and numerical rating scales (NRS), a question on their ability to raise their arms above their head and the modified Health Assessment Questionnaire (mHAQ) to examine participants' functional status...
June 20, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28634388/mito-xenophagic-killing-of-bacteria-is-coordinated-by-a-metabolic-switch-in-dendritic-cells
#15
Nadine Radomski, Danny Kägebein, Elisabeth Liebler-Tenorio, Axel Karger, Elke Rufer, Birke Andrea Tews, Stefanie Nagel, Rebekka Einenkel, Anne Müller, Annica Rebbig, Michael R Knittler
Chlamydiae are bacterial pathogens that grow in vacuolar inclusions. Dendritic cells (DCs) disintegrate these compartments, thereby eliminating the microbes, through auto/xenophagy, which also promotes chlamydial antigen presentation via MHC I. Here, we show that TNF-α controls this pathway by driving cytosolic phospholipase (cPLA)2-mediated arachidonic acid (AA) production. AA then impairs mitochondrial function, which disturbs the development and integrity of these energy-dependent parasitic inclusions, while a simultaneous metabolic switch towards aerobic glycolysis promotes DC survival...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28634143/pcr-based-verification-of-positive-rapid-diagnostic-tests-for-intestinal-protozoa-infections-with-variable-test-band-intensity
#16
Sören L Becker, Ivan Müller, Pascal Mertens, Mathias Herrmann, Leyli Zondie, Lindsey Beyleveld, Markus Gerber, Rosa du Randt, Uwe Pühse, Cheryl Walter, Jürg Utzinger
Stool-based rapid diagnostic tests (RDTs) for pathogenic intestinal protozoa (e.g. Cryptosporidium spp. and Giardia intestinalis) allow for prompt diagnosis and treatment in resource-constrained settings. Such RDTs can improve individual patient management and facilitate population-based screening programmes in areas without microbiological laboratories for confirmatory testing. However, RDTs are difficult to interpret in case of 'trace' results with faint test band intensities and little is known about whether such ambiguous results might indicate 'true' infections...
June 17, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28633970/unified-neural-field-theory-of-brain-dynamics-underlying-oscillations-in-parkinson-s-disease-and-generalized-epilepsies
#17
E J Müller, S J van Albada, J W Kim, P A Robinson
The mechanisms underlying pathologically synchronized neural oscillations in Parkinson's disease (PD) and generalized epilepsies are explored in parallel via a physiologically-based neural field model of the corticothalamic-basal ganglia (CTBG) system. The basal ganglia (BG) are approximated as a single effective population and their roles in the modulation of oscillatory dynamics of the corticothalamic (CT) system and vice versa are analyzed. In addition to normal EEG rhythms, enhanced activity around 4 Hz and 20 Hz exists in the model, consistent with the characteristic frequencies observed in PD...
June 17, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28633807/differential-induction-of-atf3-and-ho-1-in-myeloid-cells-and-keratinocytes-via-dimethylfumarate-or-cyclosporine-a
#18
Stefanie Müller, Nikola Smatlik, Marc Burian, Kamran Ghoreschi, Martin Röcken, Amir S Yazdi
BACKGROUND: Chronic inflammatory skin diseases are characterized by controlled proliferation of keratinocytes. Here, activating transcription factor 3 (ATF3) might play a fundamental role. In these inflammatory diseases, proliferation is controlled and only rarely leads to cancer development which can be supported by an inflammatory microenvironment. ATF3 is a dual function protein as it suppresses pro-inflammatory IL-6 and IL-8, but also acts as a pro-oncogenic factor by the suppression of p53...
June 12, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28633598/metabolism-of-inhaled-methylethylketone-in-rats
#19
Frédéric Cosnier, Stéphane Grossmann, Hervé Nunge, Céline Brochard, Samuel Muller, Anne-Marie Lambert-Xolin, Sylvie Sebillaud, Benoît Rieger, Aurélie Thomas, Marie-Josèphe Décret, Manuella Burgart, Laurent Gaté, Benoît Cossec, Pierre Campo
Methylethylketone (MEK) is widely used in industry, often in combination with other compounds. Although nontoxic, it can make other chemicals harmful. This study investigates the fate of MEK in rat blood, brain and urine as well as its hepatic metabolism following inhalation over 1 month (at 20, 200 or 1400 ppm). MEK did not significantly accumulate in the organism: blood concentrations were similar after six-hour or 1-month inhalation periods, and brain concentrations only increased slightly after 1 month's exposure...
February 28, 2017: Drug and Chemical Toxicology
https://www.readbyqxmd.com/read/28633125/primary-squamous-cell-carcinoma-of-the-thyroid-case-report-and-systematic-review-of-the-literature
#20
Florian Struller, Moritz Senne, Claudius Falch, Andreas Kirschniak, Alfred Konigsrainer, Sven Muller
BACKGROUND: Primary squamous cell cancer (PSCC) of thyroid is a rare malignancy with poor prognosis. It is mandatory to exclude secondary involvement of the thyroid by panendoscopy, CT-scan and immunohistochemical analysis. As treatment surgery, radiation and rarely chemotherapy is employed. METHODS: A systematic review of the literature was conducted searching medline and embase database using the medical subject headings "primary squamous cell carcinoma of thyroid" and "primary squamous cell cancer of thyroid", for articles published until April 2016 (n=1733)...
June 13, 2017: International Journal of Surgery Case Reports
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