bluuebunny/crossref_metadata_2025 huggingface dataset:
Les trajectoires des militantes d’Ibadan : le succès d’un apolitisme de façade et l’échec du militantisme politique (1947-1957)1
Authors: Panata Sara
Published: February 2017

En examinant le cas de la ville d’Ibadan, au sud-ouest du Nigéria, à l’époque coloniale tardive (1947-1957), l’auteure se concentre sur l’analyse des mobilisations collectives féminines, angle d’attaque privilégié pour saisir la manière dont les femmes s’organisent afin de négocier une autonomie majeure dans le champ à la fois socioéconomique et politique. L’auteure prête attention particulièrement à la complexité de ces négociations quand ces dernières impliquent une remise en cause des assignations de genre propres à cette époque étudiée et, notamment, d’une féminité conçue autour des fonctions sociales de gardiennes du foyer, de mères et d’épouses. Les stratégies d’action et les discours déployés par les femmes sont analysés en montrant les domaines où elles ont réussi à endiguer leurs difficultés et à atteindre la visibilité recherchée, mais aussi ceux où elles ont dû se résoudre à accepter des logiques sociales encore trop enracinées pour être bouleversées.
Négocier le genre par les normes et le consensus : une association de femmes « rapatriées » à Ouagadougou
Authors: Degorce Alice
Published: February 2017

Cet article porte sur une association de femmes « rapatriées » de Côte d’Ivoire au lendemain de la guerre de 2002. Regroupant plusieurs générations, cette association intègre désormais des jeunes femmes qui n’ont pas nécessairement « fait la Côte », mais qui sont séduites par le charisme de sa présidente ou encore par les performances chantées à l’occasion de différentes cérémonies. Ces éléments pointent précisément la façon dont le genre s’avère fondamental pour le fonctionnement de l’association et permet d’aller au-delà des divisions sociales habituelles entre personnes migrantes et personnes non migrantes. Par leur rassemblement autour de la présidente de l’association, les femmes peuvent en effet faire face à des figures masculines de l’autorité. L’analyse s’oriente ainsi vers une forme de négociation des rapports de genre passant par la norme et le consensus social, qui s’articule autour du religieux, de l’expérience acquise en migration et du contexte actuel de la capitale burkinabè.
Parcours croisés d’une internationalisation du militantisme féminin au Burundi et au Libéria
Authors: De Almagro Maria Martin
Published: February 2017

L’auteure s’intéresse à l’internationalisation des militantes pour les droits des femmes au Burundi et au Libéria depuis 2003 par l’entremise d’une analyse des parcours personnel et professionnel de quatre femmes. Son étude contribue à mettre en évidence les ressorts de l’émergence d’un large espace professionnel consacré aux activités de plaidoyer pour la mise en place de l’Agenda sur les femmes, la paix et la sécurité du Conseil de sécurité des Nations unies. Ce travail vise à préciser les facteurs qui déterminent « les moments de passage » de l’activisme bénévole à la professionnalisation et à l’internationalisation.
Les conteuses québécoises : le brouillage des stéréotypes sexués au coeur d’une pratique en quête de reconnaissance
Authors: Martineau Myriame
Published: February 2017

L’auteure trace un portrait de la pratique des conteuses au Québec, à partir d’une enquête par questionnaire. Elle interroge leur place au sein du renouveau du conte, leurs perceptions de l’art de conter et leurs prises de parole. En inversant certaines normes genrées et en valorisant des femmes « remarquables », souvent oubliées de l’histoire, les conteuses proposent de brouiller les stéréotypes sexués du conte, en offrant un nouvel espace d’oralité pour appréhender les rapports de sexe.
Safety of Cyclists in Belgade
Authors: Radović Milija , Drašković Danislav , Vukšić Vedran , Ivanišević Tijana
Published: February 2017

This paper analyses traffic accidents involving cyclists that occurred within the territory of the city of Belgrade over the period of five years from 2009. to 2013. year, as well as survey of attitudes and behaviour of cyclists and use of protective equipment. Based on observed statistical data, subjective and objective risk, we defined a proposal of measures to improve the safety of this vulnerable category of traffic participants.
Management of High Risk Road Sections of Sarajevo - Romanija Region (Case Study)
Authors: Mandić Valentina , Drašković Danislav
Published: February 2017

Road traffic, as a part of the entire transport system, is an important factor of social growth and development, which is necessary to create conditions for its safe operation, bearing in mind that all the benefits of this phenomenon are still paying a high price of unnecessary human suffering. In a contemporary society, there is a large number of institutions that play a role in the functioning of the transport system, but they stand out as the holders of activities and measures to improve traffic safety. Given that the number of accidents in recent years has reached a worrying level, in the interest of society is to reduce the number of accidents, or to increase traffic safety, because the consequences that the society is submitting in the form of human casualties and material damage are large. The model for the absolute traffic safety does not exist, but a permanent analytical monitoring of the status of road safety, control and regulation of traffic and taking measures to eliminate the risk factors can greatly increase the level of traffic safety.
UVJETNA OSUDA KAO KAZNENOPRAVNA SANKCIJA
Authors: Mršić Gordana
Published: February 2017

U radu se prikazuje uvjetna osuda kao posebna kaznenopravna sankcija zastupljena u svim vaţećim kaznenim zakonima. Posebno je opisan nastanak uvjetne osude kroz povijest, njen znaĉaj i karakteristike u anglosaksonskom i kontinentalnom pravnom sistemu. Uĉinjen je osvrt i na djelomiĉnu uvjetnu osudu i opoziv uvjetne osude uslijed poĉinjenja novog kaznenog djela u vrijeme provjeravanja ili u sluĉaju neizvršenja posebnih obveza koje je Sud naloţio poĉinitelju kaznenog djela.
FLEKSIBILNI OBLICI ZAPOŠLJAVANJA U KONTEKSTU NAČELA KONKURENCIJE RADNIH SPOSOBNOSTI
Authors: Ćupurdija Milorad
Published: February 2017

U ovom radu autor razmatra politiku zapošljavanja primjenom modela fleksibilnih oblika rada. U uvjetima globalizacije i jačanja tržišnog gospodarstva koji se temelji na slobodnom protoku robe, ljudi i kapitala prevladava trend uvođenja fleksibilnosti na tržištu rada. Fleksibilizacija radnih odnosa bitno mijenja tradicionalni koncept radnog odnosa a što se posebno odnosi na radno-pravni institut zasnivanja radnog odnosa. Za poslodavce to znači smanjivanje admnistrativno-birokratske procedure, manje troškova, mogućnost veće fluktuacije u području ljudskih potencijala i sl., dok za radnike takva politika može bitno narušiti socijalnu sigurnost. Nositelji politike rada očekuju fleksibilnije poslovanje i gospodarski rast prihvaćanjem modela fleksigurnosti. Radi se o modelu koji predstavlja kompromis između fleksibilizacije i sigurnosti radnog odnosa. Postavlja se pitanje, u kojoj mjeri će važeća normativno-pravna regulativa koja se odnosi na zasnivanje, a posljedično i na prestanak radnog odnosa, uspostaviti kompromis između fleksibilnosti i sigurnosti, te da li će sadašnja rješenja ispuniti očekivanja koja se odnose na zacrtane ciljeve koji se žele postići modelom fleksigurnosti.
ĈOVEK KAO UZROK ŠTETA I FAKTOR ZAŠTITE U INFORMACIONIM SISTEMIMA
Authors: Rodić Boško
Published: February 2017

Tekst koji sledi jeste preraĊena (doraĊena) glava 5.1. knjige B. Rodić, G. ĐorĊević, Da li ste sigurni da ste bezbedni, „Produktivnost― AD, Beograd, 2004.U praksi, razume se i literaturi, više puta je potvrĊeno da je ĉovek kljuĉni faktor informacione bezbednosti (IB), bilo sa strane nanošenja štete, bilo sa strane odrţavanja neophodnog nivoa te iste IB. Naime, u okviru sistematizacije faktora IB, ĉovek kao subjekat (a i objekat IB) zauzima posebno (kljuĉno) mesto.Poziciju humanog faktora u okviru IB treba posmatrati iz više uglova. Prvo – zaštite40 ljudi, zaštite sa ljudima, i, zaštite – od ljudi.
PRIMJENA FAZZY LOGIKE KOD RJEŠAVANJA PROBLEMA EKSPERTNOG SISTEMA
Authors: Straživuk Duška
Published: February 2017

Fazzy logika je grana matematike koja se bavi nepreciznim podacima i problemima koji mogu da imaju više rješenja. Za razliku od bolove logike, koja je ugraĊena u raĉunare i koja poznaje samo odluke tipa taĉno-netaĉno, fazzy logika rješava probleme na naĉin koji više podsjeća na ljudsku logiku. Umjesto da se koristi samo binarno 1 i 0 kao odgovori, fazzy logika koristi ĉitav niz vrijednosti koje mogu da se naĊu izmeĊu tih vrijednosti. Fazzy logika se koristi za rješavanje problema ekspertnih sistema i sistema koji treba da daju odgovore na vrlo promjenjivim, nepostojanim i nepredvidivim uslovima.
Motor control of Drosophila feeding behavior
Authors: Schwarz Olivia , Bohra Ali Asgar , Liu Xinyu , Reichert Heinrich , VijayRaghavan Krishnaswamy , Pielage Jan
Published: February 2017

The precise coordination of body parts is essential for survival and behavior of higher organisms. While progress has been made towards the identification of central mechanisms coordinating limb movement, only limited knowledge exists regarding the generation and execution of sequential motor action patterns at the level of individual motoneurons. Here we use Drosophila proboscis extension as a model system for a reaching-like behavior. We first provide a neuroanatomical description of the motoneurons and muscles contributing to proboscis motion. Using genetic targeting in combination with artificial activation and silencing assays we identify the individual motoneurons controlling the five major sequential steps of proboscis extension and retraction. Activity-manipulations during naturally evoked proboscis extension show that orchestration of serial motoneuron activation does not rely on feed-forward mechanisms. Our data support a model in which central command circuits recruit individual motoneurons to generate task-specific proboscis extension sequences.
Single-photon emission from InAsP quantum dots embedded in
density-controlled InP nanowires
Authors: Yanase Shougo , Sasakura Hirotaka , Hara Shinjiro , Motohisa Junichi
Published: February 2017

We attempted to control the density and size of InP-based nanowires (NWs) and
nanowire quantum dots (NW-QDs) during selective-area metalorganic vapor phase
epitaxy. InP nanowire arrays with a 5 µm pitch and an average NW diameter
d of 67 nm were successfully grown by optimization of
growth conditions. InAsP quantum dots were embedded in these density-controlled
InP NW arrays, and clear single-photon emission and exciton-biexciton cascaded
emission were confirmed by excitation-dependent photoluminescence and photon
correlation measurements.
The Quest for Success and Power in F. Scott Fitzgerald's Novel The Beautiful and Damned
Authors: Eddin Sadeq Ala
Published: February 2017

This study aims at investigating the concepts of success and power, as depicted by F. Scott Fitzgerald in The Beautiful and Damned (2009). Cultural change motivates individuals to work harder to achieve success, which in turn makes them influential. The study reveals that the concepts of success and power are controversial, as their means vary from one theorist to another.  Waldo Emerson, for example, believes that success is connected to happiness.  He, therefore, lists down features that characterize successful people. To succeed, one must learn to follow their desires, an argument that is expounded by the ideology of the American Dream.  Friedrich Nietzsche, however, explains that individuals are motivated to lead due to the fact that power brings about the superman. To achieve the status of the superman, Nietzsche believes that individuals develop the will to power and are able to influence others (Nietzsche, 1968). Fitzgerald, on the other hand, makes it clear that power leads to liberty. The novel provides a deep analysis of the quest for power and success. The main characters are Gloria, Joseph, and Anthony who helps to demonstrate the quest for success and power. Richard Caramel is also a character whose role explains the pursuit of true happiness. He is depicted as powerful because he influences the society through his writings. He has a strong determination to be a writer, which motivates him to work hard and to seek further success.
A Bakhtinian Reading of John Donne’s Parody Poem “The Bait”
Authors: Alareer Refaat , Omar Noritah , Kaur Hardev
Published: February 2017

While conventional critics seek the comic aspect of parody, modernist critics credit parody with questioning mainstream literary trends and subverting literary production. For instance, Mikhail Bakhtin believes in parody’s power to create “a decrowning double” by turning the official worldview up-side-down. For experimental poets like John Donne, parody transcends mere comical imitation into a serious practice. Donne, having lived in the heyday of the Renaissance with its overemphasis on decorum and courtly love, sought refuge in parody to resist and disturb existing norms of versification and offer an alternative worldview. This paper examines John Donne’s parody poem “The Bait” in the light of Bakhtin’s concept of parody as a decrowning double. The analysis shows that not only had Donne resorted to parody to criticize the society, but he also employed it to undermine established rules of poetry. The study concludes that Donne used parody to create an important platform to liberate poetry from dominant modes of versification, invite readers, often by means of defamiliarisation, to reconsider their stance and literary taste, and promote experimental styles; thus, Donne transcends the norms of prevalent courtly love poetry once and for all.
Dynamical conditions of ice supersaturation and ice nucleation in convective systems: A comparative analysis between in situ aircraft observations and WRF simulations
Authors: D'Alessandro John J. , Diao Minghui , Wu Chenglai , Liu Xiaohong , Chen Ming , Morrison Hugh , Eidhammer Trude , Jensen Jorgen B. , Bansemer Aaron , Zondlo Mark A. , DiGangi Josh P.
Published: February 2017

Occurrence frequency and dynamical conditions of ice supersaturation (ISS, where relative humidity with respect to ice (RHi) > 100%) are examined in the upper troposphere around convective activity. Comparisons are conducted between in situ airborne observations and the Weather Research and Forecasting model simulations using four double‐moment microphysical schemes at temperatures ≤ −40°C. All four schemes capture both clear‐sky and in‐cloud ISS conditions. However, the clear‐sky (in‐cloud) ISS conditions are completely (significantly) limited to the RHi thresholds of the Cooper parameterization. In all of the simulations, ISS occurrence frequencies are higher by ~3–4 orders of magnitude at higher updraft speeds (>1 m s−1) than those at the lower updraft speeds when ice water content (IWC) > 0.01 g m−3, while observations show smaller differences up to ~1–2 orders of magnitude. The simulated ISS also occurs less frequently at weaker updrafts and downdrafts than observed. These results indicate that the simulations have a greater dependence on stronger updrafts to maintain/generate ISS at higher IWC. At lower IWC (≤0.01 g m−3), simulations unexpectedly show lower ISS frequencies at stronger updrafts. Overall, the Thompson aerosol‐aware scheme has the closest magnitudes and frequencies of ISS >20% to the observations, and the modified Morrison has the closest correlations between ISS frequencies and vertical velocity at higher IWC and number density. The Cooper parameterization often generates excessive ice crystals and therefore suppresses the frequency and magnitude of ISS, indicating that it should be initiated at higher ISS (e.g., ≥25%).
Dependence of Pedersen conductance in the E and F regions and their ratio on the solar and geomagnetic activities
Authors: Sheng Cheng , Deng Yue , Lu Yang , Yue Xinan
Published: February 2017

Ionospheric conductivity plays an important role in the magnetosphere‐ionosphere coupling. The altitudinal distribution of Pedersen conductivity gives us a rough idea about the altitudinal distribution of Joule heating at high latitudes, which is of great significance regarding the response of upper atmosphere to geomagnetic energy inputs. Based on the electron density profiles derived from the Constellation Observing System for Meteorology, Ionosphere, and Climate measurements during 2009–2014, Pedersen conductivity has been estimated. A climatologic study of the height‐integrated Pedersen conductivity in both E (100–150 km) and F (150–600 km) regions, i.e., ΣPE and ΣPF, and their ratio (γP=ΣPE/ΣPF) under different solar and geomagnetic conditions has been conducted. Both ΣPE and ΣPF increase with F10.7 and Ap indices. Their ratio is smaller at higher solar flux but larger under more disturbed geomagnetic conditions. Meanwhile, an interhemispheric asymmetry has been identified in the Ap and F10.7 dependencies of γP, which also varies with local time. These results will help to improve our understanding of the variations of the altitudinal energy distribution under different solar and geomagnetic conditions and the interhemispheric asymmetry of the high‐latitude electrodynamics.
Clostridioides difficile 630Δerm in silico and in vivo – quantitative growth and extensive polysaccharide secretion
Authors: Dannheim Henning , Will Sabine E. , Schomburg Dietmar , Neumann‐Schaal Meina
Published: February 2017

Antibiotic‐associated infections with Clostridioides difficile are a severe and often lethal risk for hospitalized patients, and can also affect populations without these classical risk factors. For a rational design of therapeutical concepts, a better knowledge of the metabolism of the pathogen is crucial. Metabolic modeling can provide a simulation of quantitative growth and usage of metabolic pathways, leading to a deeper understanding of the organism. Here, we present an elaborate genome‐scale metabolic model of C. difficile 630Δerm. The model iHD992 includes experimentally determined product and substrate uptake rates and is able to simulate the energy metabolism and quantitative growth of C. difficile. Dynamic flux balance analysis was used for time‐resolved simulations of the quantitative growth in two different media. The model predicts oxidative Stickland reactions and glucose degradation as main sources of energy, while the resulting reduction potential is mostly used for acetogenesis via the Wood–Ljungdahl pathway. Initial modeling experiments did not reproduce the observed growth behavior before the production of large quantities of a previously unknown polysaccharide was detected. Combined genome analysis and laboratory experiments indicated that the polysaccharide is an acetylated glucose polymer. Time‐resolved simulations showed that polysaccharide secretion was coupled to growth even during unstable glucose uptake in minimal medium. This is accomplished by metabolic shifts between active glycolysis and gluconeogenesis which were also observed in laboratory experiments.
Nonlinear hierarchical control of a quad tilt‐wing UAV: An adaptive control approach
Authors: Yildiz Yildiray , Unel Mustafa , Demirel Ahmet Eren
Published: February 2017

In this paper, a nonlinear hierarchical adaptive control framework is proposed for the control of a quad tilt‐wing unmanned aerial vehicle (UAV). An outer loop model reference adaptive controller with robustifying terms creates required forces to be able to move the UAV on a reference trajectory, and an inner loop nonlinear adaptive controller realizes the required attitude angles to achieve these forces. A rigorous stability analysis is provided showing the boundedness of all the signals in this cascaded controller structure. The development and the stability analysis of the controller do not use any linearizations and use the full nonlinear UAV dynamics. The controller is implemented on a high‐fidelity nonlinear tilt‐wing quadrotor model in the presence of uncertainties, wind disturbances, and measurement noise as well as actuator and structural failures. In this work, in addition to earlier modeling studies, the effect of wing‐angle variations, actuator failures, and structural failures and their effect on the center of gravity of the UAV are rigorously and systematically investigated and reflected in the model. Simulation results showing the performance of the proposed controller and a comparison with the fixed controller used in earlier studies are presented in the paper.
Charge Transfer from Methylammonium Lead Iodide Perovskite to Organic Transport Materials: Efficiencies, Transfer Rates, and Interfacial Recombination
Authors: Hutter Eline M. , Hofman Jan‐Jaap , Petrus Michiel L. , Moes Michiel , Abellón Ruben D. , Docampo Pablo , Savenije Tom J.
Published: February 2017

Perovskite‐based photovoltaics have been rapidly developed, with record power conversion efficiencies now exceeding 22%. In order to rationally design efficient and stable perovskite solar cells, it is important to understand not only charge trapping and recombination events, but also processes occurring at the perovskite/transport material (TM) interface, such as charge transfer and interfacial recombination. In this work, time‐resolved microwave conductivity measurements are performed to investigate these interfacial processes for methylammonium lead iodide and various state‐of‐the‐art organic TMs. A global kinetic model is developed, which accurately describes both the dynamics of excess charges in the perovskite layer and transfer to charge‐specific TMs. The authors conclude that for state‐of‐the‐art materials, such as Spiro‐OMeTAD and PCBM, the charge extraction efficiency is not significantly affected by intra‐band gap traps for trap densities under 1015 cm–3. Finally, the transfer rates to C60, PCBM, EDOT‐OMeTPA, and Spiro‐OMeTAD are sufficient to outcompete second order recombination under excitation densities representative for illumination by AM1.5.
Multiple Wins: Embracing Technology to Increase Efficiency and Maximize Efforts
Authors: Gottlieb Michael , Chan Teresa M. , Sherbino Jonathan , Yarris Lalena
Published: February 2017

Clinician educators (CEs) are challenged to produce meaningful scholarship while balancing various clinical and administrative roles. The increasing availability of technology provides new opportunities for scholarly output and dissemination. This article proposes three strategies for utilizing technology to enhance scholarly output for the busy CE. The strategies are supported by real examples of these techniques, followed by a discussion of potential limitations and future directions.
Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations
Authors: Grossfeld Paul
Published: February 2017

Jacobsen syndrome is a rare chromosomal disorder caused by distal deletions in the long arm of chromosome 11. All patients with Jacobsen syndrome have Paris–Trousseau syndrome, a bleeding disorder that causes neonatal thrombocytopenia, and persistent platelet dysfunction. Despite that, to date there are no reported cases of hemorrhagic strokes occurring in patients with Jacobsen syndrome. In the last 6 years at least six cases of brain hemorrhages in patients with Jacobsen syndrome have occurred. In this report, we perform a retrospective review of these six cases. The analysis indicates that the etiology of brain hemorrhages in Jacobsen syndrome is likely multifactorial. A likely cause (or causes) was identified in three of the cases, and additional potential risk factors were identified. Based on these findings, clinical recommendations are provided that should aid in the identification of those individuals with Jacobsen syndrome that are at increased risk for brain hemorrhages, and will hopefully decrease the occurrence of this devastating complication in people with Jacobsen syndrome.© 2017 Wiley Periodicals, Inc.
The recurrentPPP1CBmutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype
Authors: Bertola Débora , Yamamoto Guilherme , Buscarilli Michelle , Jorge Alexander , Passos‐Bueno Maria Rita , Kim Chong
Published: February 2017

We report on a 12‐year‐old Brazilian boy with the p.Pro49Arg mutation inPPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also showed the same hair pattern—sparse, thin, and with slow growing—, similar to the typical ectodermal finding observed in Noonan syndrome‐like disorder with loose anagen hair. Additionally, he presented craniosynostosis, a rare clinical finding in RASopathies. This report gives further support that this novel RASopathy—PPP1CB‐related Noonan syndrome with loose anagen hair—shares great similarity to Noonan syndrome‐like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality. © 2017 Wiley Periodicals, Inc.
Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I
Authors: Nestrasil Igor , Shapiro Elsa , Svatkova Alena , Dickson Patricia , Chen Agnes , Wakumoto Amy , Ahmed Alia , Stehel Edward , McNeil Sarah , Gravance Curtis , Maher Elizabeth
Published: February 2017

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood‐brain barrier (BBB) which limits treatment effects of intravenously applied α‐L‐iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline. Neuropsychological testing and MRIs were performed twice prior (baseline, at 1 year) and twice after initiating IT rhIDU (at 2nd and 3rd years). The difference between pre‐ and post‐treatment means was evaluated as a percentage of the change. Neurocognitive performance improved particularly in memory tests and resulted in improved school performance after IT rhIDU treatment. White matter (WM) integrity improved together with an increase of WM and corpus callosum volumes. Hippocampal and gray matter volume decreased which may either parallel reduction of glycosaminoglycan storage or reflect typical longitudinal brain changes in early adulthood. In conclusion, our outcomes suggest neurological benefits of IT rhIDU compared to the intravenous administration on brain structure and function in a single MPS IA patient. © 2017 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.
Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18
Authors: Akkurt Mehmet Ozgur , Higgs Amanda , Turan Ozerk T. , Turan Ozhan M. , Turan Sifa
Published: February 2017

Inverted duplication deletion of 8p (invdupdel[8p]) is a well‐described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life‐threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life. In this case, we also emphasize the diagnostic power of microarray analysis in detecting the underlying genetic causes for fetuses with multiple congenital anomalies. © 2017 Wiley Periodicals, Inc.
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome
Authors: Tim‐Aroon Thipwimol , Jinawath Natini , Thammachote Weerin , Sinpitak Praweena , Limrungsikul Anchalee , Khongkhatithum Chaiyos , Wattanasirichaigoon Duangrurdee
Published: February 2017

GATAD2B gene is involved in chromatin modification and transcription activity. Loss‐of‐function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup‐shaped ears, and clinodactyly. Karyotype was normal. Single nucleotide polymorphism array revealed a 1.06 Mb deletion of chromosome 1q21.3, which was confirmed to be de novo. The deleted region encompassed 35 genes, including three known disease‐associated genes, namely GATAD2B, TPM3, and HAX1. We further identify and summarize seven additional patients with 1q21.3 microdeletion from literature review and clinical databases (DECIPHER, ISCA/ClinGen). Genomic location analysis of all eight patients revealed different breakpoints and no segmental duplication, indicating that non‐homologous end joining is a likely mechanism underlying this particular microdeletion. This data suggests that 1q21.3 microdeletion is a recurrent microdeletion syndrome with distinguishable phenotypes, and loss of function of GATAD2B is the major contributor of the characteristic facies and ID. Additionally, the deletion of TPM3 warrants a risk of concomitant muscle disease in our patient. © 2017 Wiley Periodicals, Inc.
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex
Authors: Farach Laura S. , Gibson William T. , Sparagana Steven P. , Nellist Mark , Stumpel Connie T. R. M. , Hietala Marja , Friedman Elliott , Pearson Deborah A. , Creighton Susan P. , Wagemans Annemiek , Segel Reveel , Ben‐Shalom Efrat , Au Kit Sing , Northrup Hope
Published: February 2017

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC. This finding has significant implications for counseling patients regarding prognosis. More patient data are required before changing the surveillance recommendations for patients with the reported variant. However, consideration should be given to tailoring surveillance recommendations for all pathogenic TSC1 and TSC2 variants with documented milder clinical sequelae. © 2017 Wiley Periodicals, Inc.
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations
Authors: Sepp Róbert , Hategan Lidia , Bácsi Attila , Cseklye Judit , Környei László , Borbás János , Széll Márta , Forster Tamás , Nagy István , Hegedűs Zoltán
Published: February 2017

Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L‐type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm. On the first day of life bradycardia due to 2:1 atrioventricular (AV) block and marked QTc prolongation of 600 ms was noted. On medical therapy with propranolol and mexiletine 1:1 AV conduction returned with QTc prolongation of 470–580 ms. The patient lacked other extracardiac manifestations, most importantly syndactyly, neurological complications or autism. On genetic analysis, the canonical TS1 causing mutation, p.Gly406Arg in exon 8A of the CACNA1C gene was detected. The CACNA1C p.Gly406Arg variant was not present in the parents, but was detected in different DNA samples of the index patient. Our case highlight further phenotypic variability in TS. Most importantly, it underlines that the lack of syndactyly does not exclude the presence of a TS1 genotype. © 2017 Wiley Periodicals, Inc.
Whole exome sequencing identified 1 base pair novel deletion in BCL2‐associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members
Authors: Rafiq Muhammad Arshad , Chaudhry Ayeshah , Care Melanie , Spears Danna A. , Morel Chantal F. , Hamilton Robert M.
Published: February 2017

Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium‐handling proteins. We report three severely affected males, in a four‐generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings. The affected males had tested negative on a 46‐gene pancardiomyopathy panel. Whole Exome Sequencing (WES) was performed to reveal mutation in the gene responsible in generation of DCM phenotypes. The 1‐bp (Chr10:121435979delC; c.913delC) novel heterozygous deletion in exon 4 of BAG3, was identified in three affected males, resulted in frame‐shift and a premature termination codon (p.Met306‐Stop) producing a truncated BAG3 protein lacking functionally important PXXP and BAG domains. WES data were further utilized to map 10 SNP markers around the discovered mutation to generate shared disease haplotype in all affected individuals encompassing 11 Mb on 10q25.3–26.2 harboring BAG3. Finally genotypes were inferred for the unavailable/deceased individuals in the pedigrees. Here we propose that Chr10:121435979delC in BAG3 is a causal mutation in these subjects. Our and earlier studies indicate that BAG3 mutations are associated with DCM phenotypes. BAG3 should be added to cardiomyopathy gene panels for screening of DCM patients, and patients previously considered gene elusive should undergo sequencing of the BAG3 gene. © 2017 Wiley Periodicals, Inc.
A Chirality‐Returning Sequence for the Synthesis of an Unnatural Isomer of Hirsutellone B
Authors: Sugata Hayato , Kato Ryo , Tsubogo Tetsu , Uchiro Hiromi
Published: February 2017

Herein, we have achieved the synthesis of an unnatural isomer of hirsutellone B. Previously, we reported the total synthesis of the antituberculosis agent hirsutellone B. The key step in that synthetic strategy involved the direct construction of a highly strained 13‐membered macrocycle by utilizing an intramolecular Ullmann reaction. In this work, we studied the effect of the configuration at the C19 position on the macrocyclization of the 13‐membered ring. The central chirality at the C19 position of the cyclization precursor was specifically transferred to give the planar chirality of the enol ether moiety of the 13‐membered macrocycle, and the planar chirality was then transferred back to the central chirality at the C19 position of the final product. This chirality‐returning sequence enabled the stereoselective construction of the γ‐hydroxylactam of the 13‐membered macrocycle of the unnatural isomer of hirsutellone B.
First Stereoselective Total Synthesis of a Dimeric Naphthoquinonopyrano‐γ‐lactone: (+)‐γ‐Actinorhodin
Authors: Neumeyer Markus , Brückner Reinhard
Published: February 2017

We have accomplished the first total synthesis of an isomerically pure naphthoquinonopyrano‐γ‐lactone dimer, γ‐actinorhodin, in eleven steps. Two steps exploit pairs of peri‐MeO groups as unusual selectivity controls. The respective MeO groups convey the steric bulk of a bromo or iodo substituent located ortho to one MeO group as steric hindrance into the vicinity of the second MeO group. This relay effect was indispensable for exerting regiocontrol in an aromatic bromination and diastereocontrol in an oxa‐Pictet–Spengler cyclization. The absolute configuration of our target compound was established in an asymmetric Sharpless dihydroxylation of a β,γ‐unsaturated ester, which was synthesized in a Heck coupling of a bromoiodonaphthalene with ethyl vinylacetate. The dihydroxylation provided the γ‐hydroxylactone moiety of the bromonaphthalene that was used as the substrate in the oxa‐Pictet–Spengler cyclization. Dimerization to the core of γ‐actinorhodin occurred by two Suzuki couplings.
Applications of the Wittig–Still Rearrangement in Organic Synthesis
Authors: Rycek Lukas , Hudlicky Tomas
Published: February 2017

This Review traces the discovery of the Wittig–Still rearrangement and its applications in organic synthesis. Its relationship to Wittig rearrangements is discussed along with detailed analysis of E/Z‐ and diastereoselectivity. Modifications of the products arising from the Wittig–Still rearrangement are reviewed in the context of increased complexity in intermediates potentially useful in target‐oriented synthesis. Early applications of the Wittig–Still rearrangement to modifications of steroids are reviewed as are applications to various terpene and alkaloid natural product targets and miscellaneous compounds. To the best of our knowledge, the literature is covered through December 2016.
Selective Arene Cleavage by Direct Insertion of Iridium into the Aromatic Ring
Authors: Jakoobi Martin , Halcovitch Nathan , Whitehead George F. S. , Sergeev Alexey G.
Published: February 2017

We report an unprecedented selective cleavage of aromatic C−C bonds through the insertion of well‐defined iridium complexes into the aromatic ring of simple alkylarenes. The insertion occurs at 50–100 °C without the activation of weaker C−H and C−C bonds and gives unique metallacycles in high yields. Key to the success of this approach is metal‐induced deformation of the arene ring, which creates temporary ring strain and promotes direct and selective insertion of the metal into the otherwise inert arene ring C−C bonds.
Palladium‐Catalyzed Oxidative Cascade Carbonylative Spirolactonization of Enallenols
Authors: Qiu Youai , Yang Bin , Jiang Tuo , Zhu Can , Bäckvall Jan‐E.
Published: February 2017

A highly selective palladium‐catalyzed oxidative carbonylation/carbocyclization/alkoxycarbonylation of enallenols to afford spirolactones bearing an all‐carbon quaternary center was developed. This transformation involves the overall formation of three C−C bonds and one C−O bond through a cascade insertion of carbon monoxide (CO), an olefin, and CO. Preliminary experiments on chiral anion‐induced enantioselective carbonylation/carbocyclization of enallenols afforded spirolactones with moderate enantioselectivity.
Carbonyls as Latent Alkyl Carbanions for Conjugate Additions
Authors: Dai Xi‐Jie , Wang Haining , Li Chao‐Jun
Published: February 2017

Conjugate addition of carbon nucleophiles to electron‐deficient olefins is one of the most powerful methods for forming carbon–carbon bonds. Despite great achievements in controlling the selectivity, variation of the carbon nucleophiles remains largely underexplored, with this approach relying mostly on organometallic reagents. Herein, we report that naturally abundant carbonyls can act as latent carbon nucleophiles for conjugate additions through a ruthenium‐catalyzed process, with water and nitrogen as innocuous byproducts. The key to our success is homogeneous ruthenium(II) catalysis, combined with phosphines as spectator ligands and hydrazine as the reducing agent. This chemistry allows the incorporation of highly functionalized alkyl fragments into a vast array of electron‐deficient olefins under mild reaction conditions in a reaction complementary to the classical organometallic‐reagent‐based conjugate additions mediated or catalyzed by “soft” transition metals.
Visible‐Light‐Promoted Asymmetric Cross‐Dehydrogenative Coupling of Tertiary Amines to Ketones by Synergistic Multiple Catalysis
Authors: Yang Qi , Zhang Long , Ye Chen , Luo Sanzhong , Wu Li‐Zhu , Tung Chen‐Ho
Published: February 2017

Reported herein is an unprecedented photocatalytic asymmetric cross‐dehydrogenative coupling reaction between tertiary amines and simple ketones, and it proceeds by synergistic multiple catalysis with substoichiometric amounts of a hydrogen acceptor. This process is enabled by a simple chiral primary amine catalyst through the coupling of a catalytic enamine intermediate and an iminium cation intermediate in situ generated from tetrahydroisoquinoline derivatives by coupled Ru/Co catalysis.
Low‐Temperature Anharmonicity in Cesium Chloride (CsCl)
Authors: Sist Mattia , Fischer Karl Frederik Færch , Kasai Hidetaka , Iversen Bo Brummerstedt
Published: February 2017

Anharmonic lattice vibrations govern heat transfer in materials, and anharmonicity is commonly assumed to be dominant at high temperature. The textbook cubic ionic defect‐free crystal CsCl is shown to have an unexplained low thermal conductivity at room temperature (ca. 1 W/(m K)), which increases to around 13  W/(m K) at 25 K. Through high‐resolution X‐ray diffraction it is unexpectedly shown that the Cs atomic displacement parameter becomes anharmonic at 20 K.
Drones in Archaeology. State‐of‐the‐art and Future Perspectives
Authors: Campana Stefano
Published: February 2017

In addition to traditional platforms for low‐level remote sensing (balloons, kites, etc.) new and more complex automated systems [unmanned aerial vehicles (UAVs) or drones] have become available in the last decade. The success and market expansion of these platforms has been a driving force in the development of active and passive sensors specifically designed for UAVs. In the last few years archaeologists have started testing both platforms and sensors, particularly for the following applications: three‐dimensional (3D) documentation of archaeological excavations; 3D survey of monuments and historic buildings; survey of archaeological sites and landscapes; exploratory aerial survey; and the archaeological survey of woodland areas. The scale of these applications has ranged from site‐based to landscapes‐based (approximately up to about 10 km2in extent). The role of such platforms in the archaeological survey of excavations and landscapes, and in diagnostics more generally, is of great interest and is inexorably growing. Copyright © 2017 John Wiley & Sons, Ltd.
Affordable echelle spectroscopy of the eccentric HAT‐P‐2, WASP‐14, and XO‐3 planetary systems with a sub‐meter‐class telescope
Authors: Garai Z. , Pribulla T. , Hambálek Ľ. , Kundra E. , Vaňko M. , Raetz S. , Seeliger M. , Marka C. , Gilbert H.
Published: February 2017

Background

A new off‐the‐shelf, low‐cost echelle spectrograph was installed recently on the 0.6‐m telescope at the Stará Lesná Observatory (Slovakia). In this paper, we describe in detail the radial velocity (RV) analysis of the first three transiting planetary systems, namely HAT‐P‐2, WASP‐14, and XO‐3, observed with this instrument.

Materials and Methods

First, we reduced and analyzed our RV observations. Subsequently, we compared our data with previously published RV data. We were curious about the precision of our measurements in comparison to that of the RV data achieved with echelle spectrographs of other sub‐meter‐, meter‐ and 2‐m‐class telescopes. Another question was the applicability of our RV data for modeling orbital parameters. For this purpose, the previously published data were analyzed in the same way as our RV data in order to determine and compare the parameters. Finally, we combined and analyzed all used RV data per object.

Results

The accuracy of our data is well comparable with the average RV scatter achieved with other sub‐meter and meter‐class telescopes. In comparison with 2‐m‐class telescopes, our instrumentation gives an RV scatter of about one order greater. On the other hand, our fit results show that RV data obtained with our instrumentation can be used to determine orbital parameters of these objects.

Conclusion

Based on our results, we can conclude that the spectrograph is a useful instrument for the study of objects with a relatively small RV amplitude. Resulting values are sufficient for exoplanet RV detections and spectroscopic follow‐up measurements of massive exoplanets on close‐in orbits.
Serieller Wohnungsbau – Der Schlüssel für mehr kostengünstigen Wohnraum in unseren Städten
Authors: Bramann Helmut
Published: February 2017

Deutschland ist in Bewegung gekommen: Immer mehr Menschen zieht es in die Ballungszentren und Städte. Gleichzeitig stehen wir vor der Herausforderung, knapp 1 Mio. Zuwanderer mit Wohnraum zu versorgen. Hier hat sich inzwischen ein enormer Nachfragedruck aufgebaut. Seit vielen Jahren wurde im bezahlbaren Mietwohnungsbau zu wenig gebaut. Um wachsenden Wohnungsengpässen zu begegnen, müssen alle Möglichkeiten ausgelotet werden. Bestehende Standards, Vergabestrukturen, baurechtliche Rahmenbedingungen werden hinterfragt, Planungs‐ und Genehmigungsprozesse müssen beschleunigt werden. Vor allem aber gilt es, innovative Baukonzepte zu entwickeln, mit denen Wohnungen in größerer Stückzahl und angemessener architektonischer Qualität errichtet werden können. Moderne serielle Fertigungsweisen und eine stärkere Industrialisierung des Wohnungsbaus bieten hierzu den Schlüssel.
Comparison of 6‐mercaptopurine with 6‐thioguanine for the analysis of thiopurine S‐methyltransferase activity in human erythrocyte by LC–MS/MS
Authors: Mei Shenghui , Li Xindi , Gong Xiaoqing , Zhang Xiaoyi , Li Xingang , Yang Li , Zhu Leting , Zhou Heng , Liu Yonghong , Zhou Anna , Zhang Xinghu , Zhao Zhigang
Published: February 2017

Thiopurines (TPDs) are first‐line drugs in treating neuromyelitis optica spectrum disorders (NMOSD). Evaluation of thiopurine S‐methyltransferase activity (TPMT), a major determinant of TPD toxicity, before TPD treatment using 6‐mercaptopurine (6‐MP) and 6‐thioguanine (6‐TG) as substrate was suggested. However, the equivalent of the two substrates in TPMT activity evaluation was unknown, and an alternative substrate was required in TPMT activity evaluation in patients who were already taking 6‐MP or 6‐TG. Before evaluating the agreement of 6‐MP and 6‐TG in TPMT activity measurement in patients with NMOSD, the affinity of the two substrates for the active center of TPMT should be established. A computer‐based simulation indicated that 6‐MP and 6‐TG had similar affinities for the two active sites of TPMT. According to the guidelines, an LC–MS/MS method was developed and validated to evaluate the TPMT activity in human erythrocyte hemolysate using 6‐MP or 6‐TG as substrates via 1 h incubation at 37°C. The method was applied in 81 patients with NMOSD. Evaluated by Bland–Altman plot, 6‐methylmercaptopurine and 6‐methylthioguanine represented TPMT activities were in agreement with each other. Further studies are warranted to confirm the results.