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https://www.readbyqxmd.com/read/27884122/assessment-of-copy-number-variations-in-120-patients-with-poland-syndrome
#1
Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Maura Valle, Filippo Senes, Nunzio Catena, Maria Francesca Bedeschi, Anwar Baban, Maria Grazia Calevo, Massimo Acquaviva, Margherita Lerone, Roberto Ravazzolo, Aldamaria Puliti
BACKGROUND: Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders...
November 25, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27865944/misoprostol-exposure-during-the-first-trimester-of-pregnancy-is-the-malformation-risk-varying-depending-on-the-indication
#2
Marine Auffret, Nathalie Bernard-Phalippon, Joëlle Dekemp, Patrick Carlier, Marie Gervoise Boyer, Thierry Vial, Sophie Gautier
OBJECTIVE: To report the prospective follow-up of pregnancies exposed to misoprostol during the first trimester and analyse the teratogenic risk depending on the indication for use. STUDY DESIGN: Prospective observational study of 265 women exposed to misoprostol during the first 12 weeks of pregnancy and followed until the delivery. Women were included if they or their physician had contacted a French pharmacovigilance centre before 22 weeks of gestation (WG) to obtain information on the risk of misoprostol exposure, and if there had been misoprostol exposure before 13 WG...
November 11, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27726278/subthalamic-nucleus-volumes-are-highly-consistent-but-decrease-age-dependently-a-combined-magnetic-resonance-imaging-and-stereology-approach-in-humans
#3
Johann Zwirner, Dustin Möbius, Ingo Bechmann, Thomas Arendt, Karl-Titus Hoffmann, Carsten Jäger, Donald Lobsien, Robert Möbius, Uwe Planitzer, Dirk Winkler, Markus Morawski, Niels Hammer
The subthalamic nucleus (STN) is a main target structure of deep brain stimulation (DBS) in idiopathic Parkinson's disease. Nevertheless, there is an ongoing discussion regarding human STN volumes and neuron count, which could potentially have an impact on STN-DBS. Moreover, a suspected functional subdivision forms the basis of the tripartite hypothesis, which has not yet been morphologically substantiated. In this study, it was aimed to investigate the human STN by means of combined magnetic resonance imaging (MRI) and stereology...
October 11, 2016: Human Brain Mapping
https://www.readbyqxmd.com/read/27716867/-are-higher-prices-for-larger-femoral-heads-in-total-hip-arthroplasty-justified-from-the-perspective-of-health-care-economics-an-analysis-of-costs-and-effects-in-germany
#4
R Grunert, S Schleifenbaum, R Möbius, G Sommer, D Zajonz, N Hammer, T Prietzel
Background: In total hip arthroplasty (THA), femoral head diameter has not been regarded as a key parameter which should be restored when reconstructing joint biomechanics and geometry. Apart from the controversial discussion on the advantages and disadvantages of using larger diameter heads, their higher cost is another important reason that they have only been used to a limited extent. The goal of this study was to analyse the price structure of prosthetic heads in comparison to other components used in THA...
October 7, 2016: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/27706861/doubly-n-fused-24-pentaphyrin-silicon-complex-and-its-fluorosilicate-enhanced-m%C3%A3-bius-aromaticity-in-the-fluorosilicate
#5
Shin-Ichiro Ishida, Jun Oh Kim, Dongho Kim, Atsuhiro Osuka
Treatment of nonaromatic N-fused [24]pentaphyrin with trichloromethylsilane in the presence of a base afforded doubly N-fused [24]pentaphyrin and its silicon complex. Addition of fluoride ion to the silicon complex led to the formation of its fluorosilicate as an unprecedented monoanionic six-coordinated Si(IV) complex of porphyrinoid. Treatment of the fluorosilicate with acid led to the recovery of the silicon complex. The doubly N-fused pentaphyrin, the silicon complex, and the fluorosilicate were all characterized as distinct Möbius aromatic molecules by spectroscopic measurements and X-ray crystallographic analyses...
October 5, 2016: Chemistry: a European Journal
https://www.readbyqxmd.com/read/27695248/m%C3%A3-bius-syndrome
#6
Sameer Vyas, Anuj Prabhakar, K Uday Bhanu, Paramjeet Singh, Niranjan Khandelwal
No abstract text is available yet for this article.
October 2016: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/27688520/can-t-look-away-an-eye-tracking-based-attentional-disengagement-training-for-depression
#7
Gina R A Ferrari, Martin Möbius, Amras van Opdorp, Eni S Becker, Mike Rinck
To address shortcomings of purely reaction-time based attentional bias modification (ABM) paradigms, we developed an ABM task that is controlled by eye-tracking. This task allows to assess and train both disengagement from negative pictures and maintained attention to positive pictures. As a proof-of-principle study with an unselected student sample, this positive training (PT; N = 44) was compared to a negative training (NT; N = 42), which reinforced the opposite attentional pattern. Importantly, training trials were completed only if participants performed the correct gaze patterns...
2016: Cognitive Therapy and Research
https://www.readbyqxmd.com/read/27667477/tensile-properties-of-the-hip-joint-ligaments-are-largely-variable-and-age-dependent-an-in-vitro-analysis-in-an-age-range-of-14-93-years
#8
Stefan Schleifenbaum, Torsten Prietzel, Carsten Hädrich, Robert Möbius, Freddy Sichting, Niels Hammer
INTRODUCTION: Hip joint stability is maintained by the surrounding ligaments, muscles, and the atmospheric pressure exerted via these structures. It is unclear whether the ligaments are capable of preventing dislocation solely due to their tensile properties, and to what extent they undergo age-related changes. This study aimed to obtain stress-strain data of the hip ligaments over a large age range. METHODS: Stress-strain data of the iliofemoral (IL), ischiofemoral (IS) and pubofemoral ligament (PF) were obtained from cadavers ranging between 14 and 93 years using a highly standardized setting...
October 3, 2016: Journal of Biomechanics
https://www.readbyqxmd.com/read/27616933/m%C3%A3-bius-bands-unstretchable-material-sheets-and-developable-surfaces
#9
Yi-Chao Chen, Eliot Fried
A Möbius band can be formed by bending a sufficiently long rectangular unstretchable material sheet and joining the two short ends after twisting by 180(°). This process can be modelled by an isometric mapping from a rectangular region to a developable surface in three-dimensional Euclidean space. Attempts have been made to determine the equilibrium shape of a Möbius band by minimizing the bending energy in the class of mappings from the rectangular region to the collection of developable surfaces. In this work, we show that, although a surface obtained from an isometric mapping of a prescribed planar region must be developable, a mapping from a prescribed planar region to a developable surface is not necessarily isometric...
August 2016: Proceedings. Mathematical, Physical, and Engineering Sciences
https://www.readbyqxmd.com/read/27583434/tuning-pak-activity-to-rescue-abnormal-myelin-permeability-in-hnpp
#10
Bo Hu, Sezgi Arpag, Xuebao Zhang, Wiebke Möbius, Hauke Werner, Gina Sosinsky, Mark Ellisman, Yang Zhang, Audra Hamilton, Jonathan Chernoff, Jun Li
Schwann cells in the peripheral nervous systems extend their membranes to wrap axons concentrically and form the insulating sheath, called myelin. The spaces between layers of myelin are sealed by myelin junctions. This tight insulation enables rapid conduction of electric impulses (action potentials) through axons. Demyelination (stripping off the insulating sheath) has been widely regarded as one of the most important mechanisms altering the action potential propagation in many neurological diseases. However, the effective nerve conduction is also thought to require a proper myelin seal through myelin junctions such as tight junctions and adherens junctions...
September 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27574707/ccccc-pentadentate-chelates-with-planar-m%C3%A3-bius-aromaticity-and-unique-properties
#11
Congqing Zhu, Caixia Yang, Yongheng Wang, Gan Lin, Yuhui Yang, Xiaoyong Wang, Jun Zhu, Xiaoyuan Chen, Xin Lu, Gang Liu, Haiping Xia
The coordinating atoms in polydentate chelates are primarily heteroatoms. We present the first examples of pentadentate chelates with all binding atoms of the chelating agent being carbon atoms, denoted as CCCCC chelates. Having up to five metal-carbon bonds in the equatorial plane has not been previously observed in transition metal chemistry. Density functional theory calculations showed that the planar metallacycle has extended Craig-Möbius aromaticity arising from 12-center-12-electron dπ-pπ π-conjugation...
August 2016: Science Advances
https://www.readbyqxmd.com/read/27546317/studies-on-the-magnetic-ground-state-of-a-spin-m%C3%A3-bius-strip
#12
Graham N Newton, Norihisa Hoshino, Takuto Matsumoto, Takuya Shiga, Motohiro Nakano, Hiroyuki Nojiri, Wolfgang Wernsdorfer, Yuji Furukawa, Hiroki Oshio
Here we report the synthesis, structure and detailed characterisation of three n-membered oxovanadium rings, Nan [(V=O)n Nan (H2 O)n (α, β, or γ-CD)2 ]⋅m H2 O (n=6, 7, or 8), prepared by the reactions of (V=O)SO4 ⋅x H2 O with α, β, or γ-cyclodextrins (CDs) and NaOH in water. Their alternating heterometallic vanadium/sodium cyclic core structures were sandwiched between two CD moieties such that O-Na-O groups separated the neighbouring vanadyl ions. Antiferromagnetic interactions between the S=1/2 vanadyl ions led to S=0 ground states for the even-membered rings, but to two quasi-degenerate S=1/2 states for the spin-frustrated heptanuclear cluster...
September 26, 2016: Chemistry: a European Journal
https://www.readbyqxmd.com/read/27543198/conformal-growth-of-arabidopsis-leaves
#13
Graeme Mitchison
I show that Arabidopsis leaf growth can be described with good precision by a conformal map, where expansion is locally isotropic (the same in all directions) but the amount of expansion can vary with position. Data obtained by tracking leaf growth over time can be reproduced with almost 90% accuracy by such a map. The growth follows a Möbius transformation, which is a type of conformal map that would arise if there were an underlying linear gradient of growth rate. From the data one can derive the parameters that describe this linear gradient and show how it changes over time...
November 7, 2016: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/27537063/chemistry-of-meso-aryl-substituted-expanded-porphyrins-aromaticity-and-molecular-twist
#14
Takayuki Tanaka, Atsuhiro Osuka
Since the discovery of its facile synthesis in 2001, meso-aryl-substituted expanded porphyrins have been developed as a new class of azaannulenes in light of their facile redox interconversions, conformational flexibilities involving flipping of the constitutional pyrroles, rich metal coordination behaviors, unprecedented chemical reactivities, effective platforms to realize versatile electronic states including Möbius aromatic and antiaromatic species, and abilities to stabilize organic radicals. In this Review, the syntheses, structures, and optical, electronic, and magnetic properties of meso-aryl-substituted expanded porphyrins and their metal complexes have been updated with a particular focus on the relationship between "aromaticity and molecular twist (molecular topology)"...
August 18, 2016: Chemical Reviews
https://www.readbyqxmd.com/read/27529538/a-doubly-zwitterionic-antiaromatic-28-hexaphyrin-formed-upon-deprotonation-of-5-20-di-n-methyl-4-pyridinium-substituted-28-hexaphyrin
#15
Atsuhiro Osuka, Koji Naoda
A rectangular 5,20-di(4-pyridyl) [26]hexaphyrin was reduced with NaBH4 to give corresponding twisted Möbius aromatic [28]hexaphyrin. Subsequent double N-methylation gave a dicationic 5,20-di(N-methyl-4-pyridinium) [28]hexaphyrin, which was converted to a doubly zwitterionic and Hückel antiaromatic [28]hexaphyrin upon deprotonation with sodium methoxide.
August 16, 2016: Chemistry, An Asian Journal
https://www.readbyqxmd.com/read/27515407/duality-of-orbital-symmetry-allowed-transition-states-for-thermal-sigmatropic-hydrogen-shifts-in-transition-metal-compounds
#16
Michael Mauksch, Svetlana B Tsogoeva
Herein, the Zimmerman Möbius/Hückel concept is extended to pericyclic reactions involving transition metals. While sigmatropic hydrogen shifts in parent hydrocarbons are either uniquely antarafacial or suprafacial, we have shown by theoretical orbital topology considerations and quantum chemical computations at DFT level that both modes of stereoselectivity must become allowed in the same system as a consequence of Craig-Möbius-type orbital arrays, in which a transition metal d orbital induces a phase dislocation in metallacycles...
September 19, 2016: Chemistry: a European Journal
https://www.readbyqxmd.com/read/27504968/septin-anillin-filaments-scaffold-central-nervous-system-myelin-to-accelerate-nerve-conduction
#17
Julia Patzig, Michelle S Erwig, Stefan Tenzer, Kathrin Kusch, Payam Dibaj, Wiebke Möbius, Sandra Goebbels, Nicole Schaeren-Wiemers, Klaus-Armin Nave, Hauke B Werner
Myelination of axons facilitates rapid impulse propagation in the nervous system. The axon/myelin-unit becomes impaired in myelin-related disorders and upon normal aging. However, the molecular cause of many pathological features, including the frequently observed myelin outfoldings, remained unknown. Using label-free quantitative proteomics, we find that the presence of myelin outfoldings correlates with a loss of cytoskeletal septins in myelin. Regulated by phosphatidylinositol-(4,5)-bisphosphate (PI(4,5)P2)-levels, myelin septins (SEPT2/SEPT4/SEPT7/SEPT8) and the PI(4,5)P2-adaptor anillin form previously unrecognized filaments that extend longitudinally along myelinated axons...
2016: ELife
https://www.readbyqxmd.com/read/27487329/structural-and-functional-characterisation-of-chimeric-cyclotides-from-the-m%C3%A3-bius-and-trypsin-inhibitor-subfamilies
#18
Hafiza Abdul Ghani, Sónia Troeira Henriques, Yen-Hua Huang, Joakim E Swedberg, Christina I Schroeder, David J Craik
Cyclotides are plant-derived host defence peptides displaying exceptional stability due to their cyclic cystine knot comprising three intertwined disulfide bonds and a cyclic backbone. Their six conserved cysteine residues are separated by backbone loops with diverse sequences. Prototypical cyclotides from the Möbius (kalata B1) and trypsin inhibitor (MCoTI-II) subfamilies lack sequence homology with one another, but both are able to penetrate cells, apparently via different mechanisms. To delineate the influence of the sequences of the loops on the structure and cell internalisation of these two cyclotide subfamilies, a series of Möbius/trypsin inhibitor loop-chimeras of kalata B1 and MCoTI-II were synthesised, and structurally and functionally characterised...
August 3, 2016: Biopolymers
https://www.readbyqxmd.com/read/27478000/a-pilot-trial-comparing-the-tear-out-behavior-in-screw-sockets-and-cemented-polyethylene-acetabular-components-a-cadaveric-study
#19
R Möbius, S Schleifenbaum, R Grunert, S Löffler, M Werner, T Prietzel, N Hammer
BACKGROUND: The removal of well-fixed acetabular components following THA (total hip arthroplasty) is a difficult operation and could be accompanied by the loss of acetabular bone stock. The optimal method for fixation is still under debate. The aim of this pilot study was to compare the tear-out resistance and failure behavior between osseo-integrated and non-integrated screw cups. Furthermore, we examined whether there are differences in the properties mentioned between screw sockets and cemented polyethylene cups...
October 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27470661/cortical-network-dysfunction-caused-by-a-subtle-defect-of-myelination
#20
Giulia Poggi, Susann Boretius, Wiebke Möbius, Nicole Moschny, Jürgen Baudewig, Torben Ruhwedel, Imam Hassouna, Georg L Wieser, Hauke B Werner, Sandra Goebbels, Klaus-Armin Nave, Hannelore Ehrenreich
Subtle white matter abnormalities have emerged as a hallmark of brain alterations in magnetic resonance imaging or upon autopsy of mentally ill subjects. However, it is unknown whether such reduction of white matter and myelin contributes to any disease-relevant phenotype or simply constitutes an epiphenomenon, possibly even treatment-related. Here, we have re-analyzed Mbp heterozygous mice, the unaffected parental strain of shiverer, a classical neurological mutant. Between 2 and 20 months of age, Mbp(+/-) versus Mbp(+/+) littermates were deeply phenotyped by combining extensive behavioral/cognitive testing with MRI, 1H-MR spectroscopy, electron microscopy, and molecular techniques...
November 2016: Glia
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