bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gene analysis: A rare gene disease of intellectual deficiency‐Cohen syndrome
Authors: Yang Chengqing , Hou Mei , Li Yutang , Sun Dianrong , Guo Ya , Liu Peipei , Liu Yedan , Song Jie , Zhang Na , Wei Wei , Chen Zongbo 
Published: May 2018

AbstractCohen syndrome is a rare, genetic, connective‐tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations. At the same time, we review the related literature, and further expound the molecular mechanism of the disease, a variety of clinical manifestations, treatment and prognosis.
Ice accretion and release in fuel systems
Authors: Lam J. K.-W. , Woods R. D. 
Published: May 2018

ABSTRACTFollowing the B777 accident at Heathrow in 2008, the certification authorities required Boeing, Airbus, and Rolls-Royce to conduct icing analysis and tests of their Rolls-Royce Trent engined aircraft fuel systems. The experience and the test data gained from these activities were distilled and released by Airbus to the EASA ICAR project for research and analysis. This paper provided an overview of the Airbus ice accretion and release tests. Brief narratives on the test rigs, the test procedure and methodology were given and key findings from the ice release investigations were presented. The accreted ice thickness was non-uniform; however, it is found typically c. $\mathrm{2\;\mathrm{m}\mathrm{m}}$thick. Analysis of the accreted ice collected from the rig tests showed the ice was very porous. The porosity is very much dependant on how the water was introduced and mixed in the icing test rigs. ThestandardAirbus method produced accreted ice of higher porosity compared to that produced by theinjectionmethod. The porosity of the accreted ice from Airbus icing investigations was found to be c. 0.90. The relationship of permeability with porosity was inferred from published data and models for freshly fallen snow in the atmosphere. Derived permeability$\mathrm{7.0\times 10^{-9}\;\mathrm{\mathrm{\mathrm{m}}^{\mathrm{2}}}}$was then applied in the CFD analysis of pipe flow with a porous wall lining to determine the shear stress on the accreted ice. It showed that 25%, 50% and 75% of the accreted ice has interface shear strength of less than$\mathrm{15.3\;\mathrm{Pa}}$,$\mathrm{20.7\;\mathrm{Pa}}$and$\mathrm{26.1\;\mathrm{Pa}}$, respectively.
Fetal neuroaxonal dystrophy: a new etiology of fetal akinesia
Authors: Fallet-Bianco C. , Hargitai B. , Bonasoni P. , Guimiot F. , Yacoubi M.T. 
Published: May 2018

Neuroaxonal Dystrophies (NAD) are neurodegenerative diseases characterized by axonal “spheroids” occurring in different age groups. The identification of mutations delineated new molecular entities in these disorders. We report neuropathological data of a new form of NAD, characterized by a precocious prenatal onset, different from classical and connatal Infantile Neuroaxonal Dystrophy (INAD).We studied 5 fetuses examined after pregnancy termination and 2 term neonates deceased just after birth, 4/7 from consanguineous parents. All subjects presented severe fetal akinesia sequence with microcephaly. In 4/7 cases, a molecular study was performed. In all cases, “spheroids” with typical immunohistochemical features were identified, with variable spreading in the central and peripheral nervous system. Basal ganglia, brainstem, cerebellum and spinal cord involvement was constant. Associated CNS malformations, unusual in INAD, were associated including hydrocephalus (2), callosal agenesis/hypoplasia (2), olfactory agenesis (1), cortical (3) and retinal (1) anomalies. None cases demonstrated mutations in PLA2G6, found in INAD.The clinical and neuropathological features of these fetal cases are different from those of “classical” INAD. The absence of mutations of PLA2G6, in addition, suggests that the fetal NAD is a new entity, distinct from INAD, with different molecular basis. Associated malformations suggest a wide phenotypic spectrum and probable genetic heterogeneity. Finally, fetal NAD is an additional etiology of fetal akinesia.
The Calgary Brain Bank
Authors: Joseph J.T. , Stys P. , Braun J.E.A. , Alvarezveronesi A. , Smith E. 
Published: May 2018

With the financial assistance from two donors, we have established a neurodegenerative disease brain bank at the University of Calgary. At autopsy, tissues from anatomically specific regions are frozen in liquid nitrogen vapour and stored in small, bar-coded cryovials. Cases include patients with dementia, movement disorders, demyelinating diseases, and normal controls. We prepare additional FFPE blocks for diagnosis or banking. Sampling includes all major areas of cortex and most subcortical structures. All brains, including “normal” controls, are characterized with a basic set of stains and major classification schemata are used for Alzheimer and Lewy body diseases. These tissues are available to investigators with IRB-approved research on human tissuesControl tissue is important in the study of age-associated neurodegeneration. We preserve tissues from areas of brain that either are severely or minimally affected by neurodegeneration (e.g. in Alzheimer disease, Brodmann areas 9 and 17, respectively). In our “normal” aging cohort, which includes patients with no described neurodegenerative diseases, we find frequent evidence of low-stage Alzheimer or Lewy body related pathological changes. We also find relatively frequent small vessel disease, which in part relates to our preferential selection of patient’s who died suddenly.In preliminary studies, we have examined amyloid plaque structure with confocal microscopy using beta-sheet sensitive dyes and have studied the distribution of different chaperones in normal brain.
Development and preliminary evaluation of a patient portal messaging for research recruitment service
Authors: Gleason Kelly T. , Ford Daniel E. , Gumas Diana , Woods Bonnie , Appel Lawrence , Murray Pam , Meyer Maureen , Dennison Himmelfarb Cheryl R. 
Published: May 2018

IntroductionWe developed a service to identify potential study participants through electronic medical records and deliver study invitations through patient portals.MethodsThe service was piloted in a cohort study that used multiple recruitment methods.ResultsPatient portal messages were sent to 1303 individuals and the enrollment rate was 10% (n=127). The patient portal enrollment rate was significantly higher than email and post mail (4%) strategies.ConclusionPatient portal messaging was an effective recruitment strategy.
The Hidden History of the West African Wager: Or, How Comparison with Ghana Made Côte d’Ivoire
Authors: Prosperetti Elisa 
Published: May 2018

Abstract:The famous 1957 wager between Félix Houphouët-Boigny of Côte d’Ivoire and Kwame Nkrumah of Ghana is a signal event in modern African history. Yet it has never been adequately historicized. How did this fateful meeting come about? An archival discovery reveals the hidden history of the wager’s construction. This wager inaugurated a tradition of comparison between Ghana and Côte d’Ivoire that shaped both the ways that Côte d’Ivoire was seen by social scientists and the ways that Ivorians saw themselves.
Rautangaroa, a new genus of feather star (Echinodermata, Crinoidea) from the Oligocene of New Zealand
Authors: Baumiller Tomasz K. , Fordyce R. Ewan 
Published: May 2018

AbstractWe describe a nearly complete, and thus extremely rare, feather star (Crinoidea, Comatulida) from Oligocene strata of North Otago/South Canterbury, New Zealand. A detailed analysis of this specimen, as well as newly recovered material and previously described fragmentary remains from nearby contemporaneous sedimentary units, in addition to relevant historical specimens, lead us to conclude that it cannot be placed in any currently established genus. A new genus,Rautangaroa,is proposed to accommodate it.This intact specimen ofRautangaroa aotearoa(Eagle, 2007), provides rare data on the morphology of arms and cirri. It represents the first example of arm autotomy and regeneration in a fossil feather star and thus has bearing on the importance of predation to the evolutionary history of this group.UUID:http://zoobank.org/c050dafd-93ba-4334-b11b-59209aabb588
Toward a new political regime in Turkey: From competitive toward full authoritarianism
Authors: Çalışkan Koray 
Published: May 2018

AbstractThis article argues that Turkey’s contemporary political regime is competitive authoritarianism. Tracing the evolution of Turkey’s political system from tutelary democracy to its current state, it describes the developments that resulted in the dissolution of the army’s prerogatives in politics and the rise of a new form of authoritarianism in the country. Associating this substantive change with the global emergence of competitive authoritarianism, I argue that the competitive authoritarian regime of Turkey has been institutionalized by the Justice and Development Party (Adalet ve Kalkınma Partisi, AKP) and that, since the 2017 referendum, the regime has displayed a tendency toward full authoritarianism that may render elections non-competitive by narrowing the legal channels through which the opposition can contest for political power.
‘History has many cunning passages’: Kwasi Apea Nuama between the Asante and the British
Authors: McCaskie Tom 
Published: May 2018

AbstractThis article, a companion piece to that on Kwame Tua, traces the life history of his elder full brother Kwasi Apea Nuama (c.1862–1936) as he too sought purchase and place in the new colonial order in Asante. Temperamentally a very different man from his brother, Kwasi Apea Nuama set out to make himself indispensable as the interpreter of Asante history and custom to the uncomprehending British. Both brothers, then, were mediators or translators between the old and new worlds in which they found themselves. Their heyday was the often anarchic early colonial period. Thereafter, and most especially after the British restored the office and some of the prerogatives of Asante kingship, their influence fell away. They found themselves caught between a colonial order that had little further need of their services, and a restored Asante polity that demonized them as collaborators.
OrítaBorgu: the Yorùbá and the Bààtonu down the ages
Authors: Oyèláràn Ọlásopé O. 
Published: May 2018

AbstractWe have no plausible evidence to suggest that the Yorùbá and the Bààtonu are not autochthonous populations of the territories identified as homelands for them south and west of the confluence of the rivers Niger and Benue. This article uses tangible linguistic and cultural data to question hypotheses of migration from the Middle East, with echoes of Semitic heritage. On the one hand, cognate elements that are clearly identifiable argue for an enduring historical relationship between these two peoples; on the other, probative elements that are shared with other peoples and cultures in the sub-region rule out any suggestion of a conspiracy among all of them to migrate from the Middle East to West Africa in some discoverable historical past.
Communication technologies and legitimate consumption: making sense of healthcare remittances in Cameroonian transnational relationships
Authors: Tazanu Primus M. 
Published: May 2018

AbstractResearch on the significance of the mobile phone and internet in transnational family relationships shows that these media provide direct platforms for negotiating remittances. My interest in this article is not so much in how they are used to coordinate and channel money home as in their appropriation to meet expectations of reciprocity. The article draws from field narratives collected among Cameroonians in Germany and in Cameroon to reveal contestations over what can be described as legitimate consumption within the Cameroonian transnational social sphere. Underlying the arguments in this article is my observation that direct communication within the Cameroonian transnational sphere is beset by so much mistrust, discontent and uncertainty that remitters must specify what they are remitting money for. Healthcare in Cameroon is considered an expenditure that is worthy of migrants' financial support.
Connecting with home, keeping in touch: physical and virtual mobility across stretched families in sub-Saharan Africa
Authors: Porter Gina , Hampshire Kate , Abane Albert , Munthali Alister , Robson Elsbeth , Tanle Augustine , Owusu Samuel , de Lannoy Ariane , Bango Andisiwe 
Published: May 2018

AbstractThere is a long history of migration among low-income families in sub-Saharan Africa, in which (usually young, often male) members leave home to seek their fortune in what are perceived to be more favourable locations. While the physical and virtual mobility practices of such stretched families are often complex and contingent, maintaining contact with distantly located close kin is frequently of crucial importance for the maintenance of emotional (and possibly material) well-being, both for those who have left home and for those who remain. This article explores the ways in which these connections are being reshaped by increasing access to mobile phones in three sub-Saharan countries – Ghana, Malawi and South Africa – drawing on interdisciplinary, mixed-methods research from twenty-four sites, ranging from poor urban neighbourhoods to remote rural hamlets. Stories collected from both ends of stretched families present a world in which the connectivities now offered by the mobile phone bring a different kind of closeness and knowing, as instant sociality introduces a potential substitute for letters, cassettes and face-to-face visits, while the rapid resource mobilization opportunities identified by those still at home impose increasing pressures on migrant kin.
Studies of the relationship between rice stem composition and lodging resistance
Authors: Gui M. Y. , Wang D. , Xiao H. H. , Tu M. , Li F. L. , Li W. C. , Ji S. D. , Wang T. X. , Li J. Y. 
Published: May 2018

AbstractPlant height and lodging resistance can affect rice yield significantly, but these traits have always conflicted in crop cultivation and breeding. The current study aimed to establish a rapid and accurate plant type evaluation mechanism to provide a basis for breeding tall but lodging-resistant super rice varieties. A comprehensive approach integrating plant anatomy and histochemistry was used to investigate variations in flexural strength (a material property, defined as the stress in a material just before it yields in a flexure test) of the rice stem and the lodging index of 15 rice accessions at different growth stages to understand trends in these parameters and the potential factors influencing them. Rice stem anatomical structure was observed and the lignin content the cell wall was determined at different developmental stages. Three rice lodging evaluation models were established using correlation analysis, multivariate regression and artificial radial basis function (RBF) neural network analysis, and the results were compared to identify the most suitable model for predicting optimal rice plant types. Among the three evaluation methods, the mean residual and relative prediction errors were lowest using the RBF network, indicating that it was highly accurate and robust and could be used to establish a mathematical model of the morphological characteristics and lodging resistance of rice to identify optimal varieties.
THE ENDURING SIGNIFICANCE OF RACIAL AND ETHNIC DISPARITIES IN MALE VIOLENT VICTIMIZATION, 1973–2010
Authors: Lauritsen Janet L. , Heimer Karen , Lang Joseph B. 
Published: May 2018

AbstractLatino and Black males are more likely to suffer serious violent victimization compared to White males, and it is likely that economic disadvantage and other individual level differences play a key role in these disparities. This study of self-reported data from the National Crime Victimization Survey (1973–2010) is the first effort to assess three important issues: 1) the extent to which the relationship between serious violent victimization and race and ethnicity can be accounted for by age, location of residence, poverty status, and employment; 2) whether these factors have similar influences among Black, White, and Latino males; and 3) whether the net risk for violence associated with race and ethnicity has diminished over time. Our results show that disparities between Black and White male violent victimization decrease approximately 70% once age, location of residence, poverty status, and employment are taken into account, and that differences between Latinos and White males are fully accounted for by these factors. Poverty status is the only factor that varies in the strength of its association with violence across groups. We also find little evidence to suggest that the association between race, ethnicity and victimization risk changed significantly from 1973 to 2010, once other factors are considered. Despite notable declines in violence over this time period, Black and White disparities in male victimization persist over the past four decades; however, the relationship between poverty status and violence has increased some for Black and White males.
Tracking Physicochemical Conditions of Evaporite Deposition by Stable Magnesium Isotopes: A Case Study of Late Permian Langbeinites
Authors: Feng Chongqin , Gao Caihong , Yin Qing‐Zhu , Jacobsen Benjamin , Renne Paul R. , Wang Jun , Chang Su‐Chin 
Published: May 2018

AbstractMagnesium isotopic compositions of evaporite deposits may record information concerning brine evolution during deposition. We report Mg isotopic values (δ26MgDSM3) measured from an evaporite deposit of langbeinite (K2Mg2(SO4)3) found in the Permian Salado Formation. We used these data to model Mg isotope fractionation between langbeinite and its parent brine. In addition, both measured and theoretical results are used to estimate precipitation temperature and interpret depositional environment. The Salado langbeinite δ26Mg values are relatively low and fall within a relatively narrow range (–4.12 ± 0.03‰ to −3.81 ± 0.07‰). Equilibrium fractionation factors between langbeinite and aqueous Mg2+ solutions were calculated using quantum chemical density functional theory. All computations were performed at the B3LYP/6‐31 + G(d,p) level. Solvation effects were addressed using a solvent model (“water‐droplet” approach) and mineral structures were investigated using volume variable cluster models (VVCM). The equilibrium Mg isotopic fractionation factors α between langbeinite and model brine solution we obtained are 1.0005, 1.0004, and 1.0003 (Δ26Mglangb‐water≈103lnα = 0.473‰, 0.390‰, and 0.322‰) at 10°C, 25°C, and 40°C, respectively. These relatively large equilibrium fractionation factors indicate significant Mg isotope fractionation between langbeinite and its parent brine during precipitation, as langbeinite preferentially incorporates the heavier 26Mg and 25Mg isotopes. Rayleigh distillation modeling of the Salado langbeinite's relatively light Mg isotopic composition requires δ26MgDSM3 values of −4‰ for the parent brine. Models favor a precipitation temperature as high as 40°C under equilibrium conditions. Potential disequilibrium precipitation conditions suggested by Mg isotopic data also imply rapid deposition in a hot, arid sedimentary environment prevailing in the southwestern U.S. during the Late Permian.
Constraining the Timing and Amplitude of Early Serpukhovian Glacioeustasy With a Continuous Carbonate Record in Northern Spain
Authors: Campion Alison , Maloof Adam , Schoene Blair , Oleynik Sergey , Sanz‐López Javier , Blanco‐Ferrera Silvia , Merino‐Tomé Oscar , Bahamonde Juan Ramón , Fernández Luis Pedro 
Published: May 2018

AbstractDuring the Late Paleozoic Ice Age (LPIA, 345–260 Ma), an expansion of ice house conditions at ∼330 Ma caused a nearly synchronous, global unconformity. Subaerially exposed paleotropical carbonates were dissolved by meteoric waters, mixed with the light terrestrial carbon, and recrystallized with overprinted, diagenetic
C values. In Northern Spain, development of a rapidly subsiding foreland basin kept local sea level relatively high, allowing continuous carbonate deposition to record
C without meteoric overprint. The Spanish sections show a 2‰ increase in
C that can be modeled as the ocean's response to the creation of a significant light carbon sink through widespread meteoric diagenesis of marine carbonates during the near‐global hiatus. About 15–35 m of sea level fall would have exposed a large enough volume of carbonate to account for the positive excursion in
C of oceanic DIC. Combining the
C data with high resolution biostratigraphy and new ID‐TIMS U‐Pb zircon ages from interbedded tuffs, we calculate that the depositional hiatus and glacioeustatic fall caused by the early Serpukhovian phase of ice growth lasted for approximately 3.5 My.
Water in Abyssal Peridotite: Why Are Melt‐Depleted Rocks so Water Rich?
Authors: Schmädicke E. , Gose J. , Stalder R. 
Published: May 2018

AbstractEvidence for the heterogeneity of the mantle's water content is generally acknowledged but it remains unclear if the variability of data is influenced by decompressional water loss. Here based on high water contents in peridotite, we explore if water gain may play a role. The study investigates water in abyssal peridotite by analyzing oriented orthopyroxene with polarized infrared radiation. Orthopyroxene from ODP‐Leg 153 (Mid‐Atlantic Ridge) contains 100 ppm more H2O (range: 220–323 ppm) than Leg 209 samples (range: 121–231 ppm). Possible explanations for high water concentrations are (1) water supply by gabbroic dykes, (2) reequilibration with ancient, H2O‐rich melts or melt‐derived fluid, (3) diffusional exchange between depleted peridotite and fertile rock volumes, or (4) high initial (premelting) water contents. Water in orthopyroxene is unrelated to the proximity of gabbroic dykes, and the inferred low H2O content of the latter renders possibility (1) unlikely. Possibilities (2) and (3) require that the rocks remained at mantle depth for an extended time span. This idea of a prolonged “mantle residence time” is corroborated by (i) literature data on isotopes and (ii) mantle equilibrium temperatures. Peridotite from Leg 153 reequilibrated at lower temperature (950–1,000°C) than Leg 209 peridotite (1,100–1,200°C) implying that more time elapsed between melt removal and exhumation—extending the time span for refertilization and explaining the its higher water content. The alternative that the measured concentrations are residual (4) requires high H2O amounts in original orthopyroxene (1,500 ppm) and peridotite (700 ppm)—values that are typical of an OIB‐source.