bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil
Authors: Petry Patrícia , Polli Janaina B. , Mattos Vinícius F. , Rosa Rosana C.M. , Zen Paulo R.G. , Graziadio Carla , Paskulin Giorgio A. , Rosa Rafael F.M. 
Published: April 2013

AbstractTrisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two‐tailed Fisher's exact test for comparison of frequencies (P < 0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging. © 2013 Wiley Periodicals, Inc.
Recurrent Pericarditis in Myhre Syndrome
Authors: Picco Paolo , Naselli Aldo , Pala Giovanna , Marsciani Alberto , Buoncompagni Antonella , Martini Alberto 
Published: April 2013

AbstractMyhre syndrome is a rare disorder characterized by pre‐ and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular‐appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate. Other clinical features include skeletal dysplasia, developmental delay with intellectual disability and/or behavioral disturbance, cardiac defects, cryptorchidism, and bone anomalies. The disease is caused by recently identified SMAD4 mutations. Here we describe a 7‐year‐old boy with a molecularly proven Myhre syndrome who presented life‐threatening recurrent pericarditis and systemic inflammatory symptoms that required treatment with steroid and recombinant interleukin‐1 receptor antagonist.
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations
Authors: Caparrós‐Martin José A. , Valencia María , Pulido Veronica , Martínez‐Glez Victor , Rueda‐Arenas Inmaculada , Amr Khalda , Farra Chantal , Lapunzina Pablo , Ruiz‐Perez Victor L. , Temtamy Samia , Aglan Mona 
Published: April 2013

AbstractAutosomal recessive osteogenesis imperfecta (AR‐OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performed clinical assessment and sought mutations in patients from 10 unrelated families with AR‐OI, one of whom was presented with the additional features of Bruck syndrome (BS). Pathogenic changes were identified in five different genes: three families had mutations in FKBP10, three in SERPINF1, two in LEPRE1, one in CRTAP, and one in PPIB. With the exception of a FKBP10 mutation in the BS case, all changes are novel. Of note, insertion of an AluYb8 repetitive element was detected in exon 6 of SERPINF1. Since the studied patients had variable manifestations and some distinctive features, genotype/phenotype correlations are suggested. © 2013 Wiley Periodicals, Inc.
Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2
Authors: MORRIS MARK R. , ASTUTI DEWI , MAHER EAMONN R. 
Published: April 2013

AbstractPerlman syndrome is a rare autosomal recessively inherited congenital overgrowth syndrome characterized by polyhydramnios, macrosomia, characteristic facial dysmorphology, renal dysplasia and nephroblastomatosis and multiple congenital anomalies. Perlman syndrome is associated with high neonatal mortality and, survivors have developmental delay and a high risk of Wilms tumor. Recently a Perlman syndrome locus was mapped to chromosome 2q37 and homozygous or compound heterozygous mutations were characterized in DIS3L2. The DIS3L2 gene product has ribonuclease activity and homology to the DIS3 component of the RNA exosome. It has been postulated that the clinical features of Perlman syndrome result from disordered RNA metabolism and, though the precise targets of DIS3L2 have yet to be characterized, in cellular models DIS3L2 knockdown is associated with abnormalities of cell growth and division. © 2013 Wiley Periodicals, Inc.
Willingness and Access to Joint Replacement Among African American Patients With Knee Osteoarthritis: A Randomized, Controlled Intervention
Authors: Ibrahim Said A. , Hanusa Barbara H. , Hannon Michael J. , Kresevic Denise , Long Judith , Kent Kwoh C. 
Published: April 2013

AbstractObjectiveAfrican American patients are significantly less likely to undergo knee replacement for the management of knee osteoarthritis (OA). Racial difference in preference (willingness) has emerged as a key factor. This study was undertaken to examine the efficacy of a patient‐centered educational intervention on patient willingness and the likelihood of receiving a referral to an orthopedic clinic.MethodsA total of 639 African American patients with moderate‐to‐severe knee OA from 3 Veterans Affairs primary care clinics were enrolled in a randomized, controlled trial with a 2 × 2 factorial design. Patients were shown a knee OA decision‐aid video with or without brief counseling. The main outcome measures were change in patient willingness and receipt of a referral to an orthopedic clinic. Also assessed were whether patients discussed knee pain with their primary care provider or saw an orthopedic surgeon within 12 months of the intervention.ResultsAt baseline, 67% of the participants were definitely/probably willing to consider knee replacement, with no difference among the groups. The intervention increased patient willingness (75%) in all groups at 1 month. For those who received the decision aid intervention alone, the gains were sustained for up to 3 months. By 12 months postintervention, patients who received any intervention were more likely to report engaging their provider in a discussion about knee pain (92% versus 85%), to receive a referral to an orthopedic surgeon (18% versus 13%), and for those with a referral, to attend an orthopedic consult (61% versus 50%).ConclusionAn educational intervention significantly increased the willingness of African American patients to consider knee replacement. It also improved the likelihood of patient–provider discussion about knee pain and access to surgical evaluation.
Organoruthenium Antagonists of Human A3 Adenosine Receptors
Authors: Paira Priyankar , Chow Mun Juinn , Venkatesan Gopalakrishnan , Kosaraju Vamsi Krishna , Cheong Siew Lee , Klotz Karl‐Norbert , Ang Wee Han , Pastorin Giorgia 
Published: April 2013

AbstractHuman A3 adenosine receptor (hA3AR) is a membrane‐bound G protein‐coupled receptor implicated in a number of severe pathological conditions, including cancer, in which it acts as a potential therapeutic target. To derive structure–activity relationships on pyrazolo–triazolo–pyrimidine (PTP)‐based A3AR antagonists, we developed a new class of organometallic inhibitors through replacement of the triazolo moiety with an organoruthenium fragment. The objective was to introduce by design structural diversity into the PTP scaffold in order to tune their binding efficacy toward the target receptor. These novel organoruthenium antagonists displayed good aquatic stability and moderate binding affinity toward the hA3 receptor in the low micromolar range. The assembly of these complexes through a template‐driven approach with selective ligand replacement at the metal center to control their steric and receptor‐binding properties is discussed.
A Bioinspired Approach for Shaping Au Nanostructures: The Role of Biomolecule Structures in Shape Evolution
Authors: Sahu Subash Chandra , Samantara Aneeya K. , Ghosh A. , Jena Bikash Kumar 
Published: April 2013

AbstractA new approach for shaping Au nanostructures by tuning the molecular structure of biomolecules has been explored. Different molecules, such as catechol, rutin, and quercetin, which have structural similarity to the catechol ring, were used to induce Au nanostructures under similar conditions. The as‐synthesized nanostructures are characterized by using TEM, XPS, XRD, and UV/Vis spectral measurements. The growth mechanism for the formation of these noble metal shapes and the role of the molecular structure of the stabilizing/reducing agent were investigated by using TEM and UV/Vis spectral measurements. The structure and functional groups of the reducing/stabilizing agent play a vital role in the shape evolution of nanostructures. The electrocatalytic activity of different nanostructures in the reduction of oxygen was investigated and was found to be shape‐dependent.
A Cyclen‐Based Tetraphosphinate Chelator for the Preparation of Radiolabeled Tetrameric Bioconjugates
Authors: Šimeček Jakub , Hermann Petr , Havlíčková Jana , Herdtweck Eberhardt , Kapp Tobias G. , Engelbogen Nils , Kessler Horst , Wester Hans‐Jürgen , Notni Johannes 
Published: April 2013

AbstractThe cyclen‐based tetraphosphinate chelator 1,4,7,10‐tetraazacyclododecane‐1,4,7,10‐tetrakis[methylene(2‐carboxyethyl)phosphinic acid] (DOTPI) comprises four additional carboxylic acid moieties for bioconjugation. The thermodynamic stability constants (logKML) of metal complexes, as determined by potentiometry, were 23.11 for CuII, 20.0 for LuIII, 19.6 for YIII, and 21.0 for GdIII. DOTPI was functionalized with four cyclo(Arg‐Gly‐Asp‐D‐Phe‐Lys) (RGD) peptides through polyethylene glycol (PEG4) linkers. The resulting tetrameric conjugate DOTPI(RGD)4 was radiolabeled with 177Lu and 64Cu and showed improved labeling efficiency compared with 1,4,7,10‐tetraazacyclododecane‐1,4,7,10‐tetraacetic acid (DOTA). The labeled compounds were fully stable in transchelation challenges against trisodium diethylenetriaminepentaacetate (DTPA) and disodium ethylenediaminetetraacetic acid (ETDA), in phosphate buffered saline (PBS), and human plasma. Integrin αvβ3 affinities of the non‐radioactive LuIII and CuII complexes of DOTPI(RGD)4 were 18 times higher (both IC50 about 70 picomolar) than that of the c(RGDfK) peptide (IC50=1.3 nanomolar). Facile access to tetrameric conjugates and the possibility of radiolabeling with therapeutic and diagnostic radionuclides render DOTPI suitable for application in peptide receptor radionuclide imaging (PRRI) and therapy (PRRT).
Analysis of relationships between mood and color for different musical preferences
Authors: Moon Chang Bae , Kim HyunSoo , Lee Hyun Ah , Kim Byeong Man 
Published: April 2013

AbstractWe investigated the relationship between mood and color according to musical preference. Volunteers were requested to select the mood evoked by music and the color associated with a mood word, and the color distributions and mood distributions were then analyzed with two‐way ANOVA using Minitab. The results of the analysis indicated that mood and color were differently distributed, depending on the music genre presented and the musical preference of the listener. © 2013 Wiley Periodicals, Inc. Col Res Appl, 39, 413–423, 2014
Solvent‐Assisted Diastereoselective Tri­meth­ylsilyl Cyanide Additions to Cyclic α‐Fluoro Ketones
Authors: Pham Hao , Davis Todd A. 
Published: April 2013

AbstractThis paper describes the solvent‐assisted addition of trimethylsilyl cyanide (TMSCN) to cyclic α‐fluorinated ketones. In DMF, this method gives TMS‐protected cyanohydrins in good yields (70–95 %) and with good selectivities (dr up to 22:1), and the products are readily reduced to the corresponding fluorinated 1,2‐amino alcohols.
Structural Characterization of Peptide Oligomers Containing (1R,2S)‐2‐Aminocyclohexanecarboxylic Acid (cis‐ACHC)
Authors: Choi Soo Hyuk , Ivancic Monika , Guzei Ilia A. , Gellman Samuel H. 
Published: April 2013

Abstract(1R,2S)‐2‐Aminocyclohexanecarboxylic acid (cis‐ACHC) is a preorganized β‐amino acid. cis‐ACHC favors two conformations that feature gauche conformations about the Cα–Cβ bond with torsion angles of opposite signs. The diastereomeric β‐amino acid trans‐ACHC has been widely studied as a foldamer building block, but cis‐ACHC has received less attention in this regard. We examined the conformational behaviour of three types of oligomer: (1) homooligomers of cis‐ACHC, (2) β‐peptides in which cis‐ACHC and β3h‐Ala alternate, and (3) 1:1 α/β‐peptides in which cis‐ACHC and Ala alternate. Two‐dimensional NMR experiments suggest that all three types of oligomer adopt extended conformations rather than folded conformations in solution. Two crystal structures of oligomers that contain cis‐ACHC residues, a cis‐ACHC dimer and an α/β‐peptide tetramer, show extended conformations in which the cis‐ACHC residues contain six‐membered‐ring C=O···H–N hydrogen bonds.
Horseradish Peroxidase Nanopatterned Electrodes by Click Chemistry: Application to the Electrochemical Detection of Paracetamol
Authors: Cernat Andreea , Griveau Sophie , Richard Cyrille , Bedioui Fethi , Săndulescu Robert 
Published: April 2013

AbstractWe propose the fabrication of nanostructured glassy carbon (GC) electrodes modified with horseradish peroxidase (HRP) for the detection of paracetamol. This was accomplished by inducing the nanostructuration of GC via the adsorption of polystyrene nanospheres (900 nm diameter) followed by electropolymerization of N‐(10‐azidodecyl)pyrrole. The nanospheres were then removed and nanostructured polypyrrole‐GC was submitted to click reaction in presence of ethynyl‐biotin that was further coupled to HRP‐avidin. The electrode was then used to sense the electrochemical reduction of the enzymatically generated electroactive oxidized species of acetaminophen (NAPQI) in the presence of hydrogen peroxide. The nanostructured electrode with HRP exhibits a fast response towards NAPQI reduction and improved performances in terms of sensitivity and limit of detection compared to non structured electrode.
A constant‐time identifying large‐scale RFID tags using lines on a plane
Authors: Chou Jue‐Sam 
Published: April 2013

ABSTRACTIn this paper, we propose a new approach to identify a tag of a radio frequency identification system in constant time while keeping untraceability to the tag. Our scheme does not use any cryptographic primitives. Instead, we use a line in a plane to represent a tag. The points on the line, which are infinite and different each other, can be used as tag identification. We also explore the scalability of the proposed scheme. The result of experiments showed that a tag of the radio frequency identification system over 1 000 000 tags, embedded 3 K memory, can store 559 dynamic identity proofs. Copyright © 2013 John Wiley & Sons, Ltd.
Diapiric ascent of silicic magma beneath the Bolivian Altiplano
Authors: del Potro Rodrigo , Díez Mikel , Blundy Jon , Camacho Antonio G. , Gottsmann Joachim 
Published: April 2013

AbstractThe vertical transport of large volumes of silicic magma, which drives volcanic eruptions and the long‐term compositional evolution of the continental crust, is a highly debated problem. In recent years, dyking has been favored as the main ascent mechanism, but the structural connection between a distributed configuration of melt‐filled pores in the source region and shallow magma reservoirs remains unsolved. In the Central Andes, inversion of a new high‐resolution Bouguer anomaly data over the Altiplano‐Puna Magma Body (APMB) reveals ~15 km wide, vertically elongated, low‐density, 3D structures rooted at the top of the APMB at 20 km depth. We integrate our gravity inversion with the available geophysical, geological, and petrological observations, and in agreement with petrological/mechanical considerations propose that, in this region of the Andes, partially molten granitic bodies ascend diapirically through the hot ductile mid‐upper crust.
Successful treatment of non‐Hodgkin lymphoma associated immune thrombocytopenia with involved field radiotherapy
Authors: Berrang Tanya , Holloway Caroline , Hart Jason , Yee Adrian , Berry Brian , Kotb Rami 
Published: April 2013

AbstractImmune thrombocytopenia complicates the course and impacts the outcome of non‐Hodgkin lymphoma (NHL‐ITP, non‐Hodgkin lymphoma–immune thrombocytopenic purpura). The response to corticosteroids and/or intravenous immune globulins is usually short lasting, but NHL‐ITP usually responds to anti‐lymphoma chemotherapy. It is not clear if this success is due to the elimination of the lymphomatous tissue or to the immunosuppressor/immunomodulator effect of chemotherapy. Myelosuppressive anti‐lymphoma chemotherapy carries the risk of severe thrombocytopenia that may not respond adequately to platelet transfusion support. We report on a patient with recurrent diffuse large B‐cell lymphoma that coincided with immune thrombocytopenia. Both diseases completely responded to involved field radiation therapy. This supports the hypothesis that at least in some cases of NHL‐ITP, the lymphomatous clone secretes the anti‐platelet antibodies. This supports the therapeutic decision making for these patients. Copyright © 2013 John Wiley & Sons, Ltd.
TOWARDS SUSTAINABLE FLOOD RISK MANAGEMENT IN THE CHINESE COASTAL MEGACITIES. A CASE STUDY OF PRACTICE IN THE PEARL RIVER DELTA
Authors: Chan Faith Ka Shun , Adekola Olalekan , Mitchell Gordon , Ng Cho Nam , Mcdonald Adrian 
Published: April 2013

ABSTRACTThis article analyses the current flood risk management practices in the Pearl River Delta (PRD), China. In the next four decades, 120 million people are expected to live in the region, which currently covers 11 major cities, and includes the coastal megacities formed by Hong Kong and Shenzhen. These populous low‐lying coastal cities experience emerging flood risk from (i) intense precipitation, (ii) storm surges, (iii) global sea level rise and (iv) rapid urbanization in the flood‐prone areas. These have major economic, social and ecological impacts and have made it imperative to adopt a sustainable flood risk management strategy to mitigate these risks. This research uses the case study in Tai O and Shenzhen River sites from Hong Kong and Shenzhen where in‐depth discussions were held with various stakeholders to overview and understand current constraints to realizing sustainable flood risk management (SFRM). The outcome shows the authorities have realized the importance of SFRM and climate change adaptation strategies. They seek further improvement in managing flood risk and preparing for unpredictable climatic regimes in both megacities, and by extension comparable urbanizing coastal cities in the PRD and East Asia. Copyright © 2013 John Wiley & Sons, Ltd.
Book Reviews
Authors: PROCITA LEONARD 
Published: April 2013

Book reviewed in this article:Regulating New Drugs. Richard L. Landau, editor.Factors in Depression. Nathan S. Klein, editor.The Phagocytic Cell in Host Defense. J. A. Bellanti and D. H. Dayton, editors.The Antigens, Volume 1. Michael Sela, editor.The Antigens, Volume II. Michael Sela, editor.Advances in Cyclic Nucleotide Research, Volume 4. P. Greengard and G. A. Robison, editors.
Observation of hole Peregrine soliton in a multicomponent plasma with critical density of negative ions
Authors: Sharma S. K. , Bailung H. 
Published: April 2013

AbstractThe evolution of hole Peregrine soliton (appearing as a deep trough between two crests) from ion‐acoustic perturbations excited in a multicomponent plasma with critical density of negative ions has been observed. The observed soliton is described by the rational solution of the cubic nonlinear Schrödinger equation, which can appear as an isolated high peak or a deep hole depending on the phase of the underlying carrier wave relative to the envelope. The measured amplitude of the hole Peregrine soliton (depth from crest to trough) is found to be more than twice the background wave height. The experimental observations are compared with the theoretical results obtained from the solution of the cubic nonlinear Schrödinger equation. The frequency spectrum of the Peregrine soliton is analyzed and found to be triangular in shape.
Superthermal electron energy interchange in the ionosphere‐plasmasphere system
Authors: Khazanov G. V. , Glocer A. , Liemohn M. W. , Himwich E. W. 
Published: April 2013

AbstractA self‐consistent approach to superthermal electron (SE) transport along closed field lines in the inner magnetosphere is used to examine the concept of plasmaspheric transparency, magnetospheric trapping, and SE energy deposition to the thermal electrons. The dayside SE population is generated both by photoionization of the thermosphere and by secondary electron production from impact ionization when the photoelectrons collide with upper atmospheric neutral particles. It is shown that a self‐consistent approach to this problem produces significant changes, in comparison with other approaches, in the SE energy exchange between the plasmasphere and the two magnetically conjugate ionospheres. In particular, plasmaspheric transparency can vary by a factor of two depending on the thermal plasma content along the field line and the illumination conditions of the two conjugate ionospheres. This variation in plasmaspheric transparency as a function of thermal plasma and ionospheric conditions increases with L‐shell, as the field line gets longer and the equatorial pitch angle extent of the fly‐through zone gets smaller. The inference drawn from these results is that such a self‐consistent approach to SE transport and energy deposition should be included to ensure robustness in ionosphere‐magnetosphere modeling networks.