bluuebunny/crossref_metadata_2025_split huggingface dataset:
Widening Access to Higher Education – An Australian Case Study
Authors: Postle Glen , Sturman Andrew 
Published: February 2013

In this paper the authors trace the development of equity within the Australian higher education context over the latter part of the last century. In particular they focus on the ways different perspectives (liberalist-individualist and social democratic) have shaped what has been a dramatic increase in the number and diversity of students accessing higher education in Australia. The adoption of a specific perspective has influenced the formation of policies concerning equity and consequently the way universities have responded to the pressures to accept more and different students. These responses are captured under two main headings – ‘restructuring the entry into higher education’ and ‘changing the curriculum within higher education’. Several examples of current programs and procedures based upon these are explained. The paper concludes with the identification of three ‘dilemmas' which have emerged as a result of the development and implementation of equity processes and procedures in higher education in Australia. These are: (a) While there has been an increase in the number and range of students accessing higher education, this has been accompanied by a financial cost to the more disadvantaged students, a cost which has the potential to exacerbate equity principles. (b) For one of the first times in the history of higher education, a focus is being placed on its teaching and learning functions, as opposed to its research functions. The problem is that those universities that have been obliged to broaden their base radically have also been obliged to review their teaching and learning practices without any budgetary compensation. (c) A third consequence of these changes relates to the life of a traditional academic. Universities that have been at the forefront of ‘changing their curriculum’ to cope with more diverse student groups (open and distance learning) have seen the loss of ‘lecturer autonomy’ as they work more as members of teams and less as individuals.
Opening the Open: The Experience of Evaluating the Finnish Open University
Authors: Seppälä Kari 
Published: February 2013

‘Opening the Open’ is a description of the National Open University Evaluation that the Finnish Higher Education Evaluation Council carried out in 2001–02. At the millennium, the Open Universities were facing fundamental changes in quantity, quality and context. The increase in the number of young people in the Open University brought its student composition closer to that of the ‘traditional’ university. The approach of the peer review was tailored to the working culture of the Open University. After the self-study, the universities carried out a limited benchmarking exercise. Instead of traditional site-visits to individual universities, national hearings were organised, where the different universities and their stakeholders shared their views. The expert panel reported that there is a need to sharpen the Open University profile of each university. Prerequisites for participation do not and should not exist, but open access has been more important than educational equality in the working practices of the Open University structure. Academic quality is assured by curriculum approval systems and extensive development work. The panel recommended that the universities should devise a national strategy and network their activities into a Finnish Open University. While the universities should organise themselves in favour of the adult student, enhancing equality should direct all the activities. Opportunities to take a degree after Open University studies should be widened. Quality enhancement should be systematic and networked, and the funding system should support quality and concentrations of expertise. The project was a mixture of tailoring, communication and embedding. The methods were adapted to the particular context of the Finnish Open University system. The project challenged the principle of independence and made practical use of practitioners. The evaluation project was closely linked to the strategic processes of the university system. After the evaluation, a national strategy process utilised the results of the project. Also, the Rectors' Council nominated a working group to deal with the questions of adult education in the universities. The Ministry of Education decided to incorporate a quality factor in the resource allocation.
Perinatal and early infantile symptoms in congenital disorders of glycosylation
Authors: Funke Simone , Gardeitchik Thatjana , Kouwenberg Dorus , Mohamed Miski , Wortmann Saskia B. , Korsch Eckhard , Adamowicz Maciej , Al‐Gazali Lihadh , Wevers Ron A. , Horvath Adrienne , Lefeber Dirk J. , Morava Éva 
Published: February 2013

AbstractCongenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or mass spectrometry. Based on the transferrin analysis patients can be biochemically diagnosed with a type 1 or type 2 transferrin pattern, and labeled as CDG‐I, or CDG‐II. The diagnosis of CDG is frequently delayed due to the highly variable phenotype, some cases showing single organ involvement and others mimicking syndromes, like skeletal dysplasia, cutis laxa syndrome, or congenital muscle dystrophy. The aim of our study was to evaluate perinatal abnormalities and early discriminative symptoms in 58 patients consecutively diagnosed with diverse CDG‐subtypes. Neonatal findings and clinical features in the first months of life were studied in 36 children with CDG‐I and 22 with CDG‐II. Maternal complications were found in five, small for gestational age in nine patients. Five children had abnormal neonatal screening results for hypothyroidism. Congenital microcephaly and neonatal seizures were common in CDG‐II. Inverted nipples were uncommon with 5 out of 58 children. Dysmorphic features were mostly nonspecific, except for cutis laxa. Early complications included feeding problems, cardiomyopathy, thrombosis, and bleeding. Cases presenting in the neonatal period had the highest mortality rate. Survival in CDG patients is highly dependent on early intervention therapy. We recommend low threshold screening for glycosylation disorders in infants with neurologic symptoms, even in the absence of abnormal fat distribution. Growth retardation and neonatal bleeding increase suspicion for CDG. © 2013 Wiley Periodicals, Inc.
Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation
Authors: Bertola Débora R , Rodrigues Melina G. , Quaio Caio R.D.C. , Kim Chong A. , Passos‐Bueno Maria Rita 
Published: February 2013

AbstractFrontonasal dysplasias (FND) comprise a spectrum of disorders caused by abnormal median facial development. Its etiology is still poorly understood but recently frontonasal dysplasia phenotypes were linked to loss‐of‐function mutations in the ALX homeobox gene family, which comprises the ALX1, ALX3, and ALX4 genes. All ALX‐related frontonasal phenotypes till date had been compatible with an autosomal recessive mode of inheritance. In contrast, heterozygous loss‐of‐function mutations in ALX4 had been only associated with isolated symmetrical parietal ossification defects at the intersection of the sagittal and lambdoid sutures, known as enlarged parietal foramina. We report a family with vertical transmission from mother to son of mild frontonasal dysplasia phenotype caused by a novel ALX4 gene mutation (c.1080‐1089_delGACCCGGTGCinsCTAAGATCTCAACAGAGATGGCAACT, p.Asp326fsX21).This is the first report of a frontonasal phenotype related to a heterozygous mutation in ALX4. This mutation is predicted to cause the loss of the aristaless domain in the C‐terminal region of the protein and preserves the homeodomain. We speculate that a different mechanism, a dominant‐negative effect, is responsible for the distinct phenotype in this family. © 2013 Wiley Periodicals, Inc.
Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome
Authors: Narumi Yoko , Min Byung‐Joo , Shimizu Kenji , Kazukawa Itsuro , Sameshima Kiyoko , Nakamura Koichi , Kosho Tomoki , Rhee Yumie , Chung Yoon‐Sok , Kim Ok‐Hwa , Fukushima Yoshimitsu , Park Woong‐Yang , Nishimura Gen 
Published: February 2013

AbstractIt is debatable whether Hajdu–Cheney syndrome (HCS) and serpentine fibula‐polycystic kidney syndrome (SFPKS) represent a single clinical entity with a variable degree of expression or two different entities, because both disorders share common clinical and radiological manifestations, including similar craniofacial characteristics, and defective bone mineralization. Since it was shown that heterozygous truncating mutations in NOTCH2 are responsible for both HCS and SFPKS, 37 patients with HCS and four patients with SFPKS are reported. To elucidate the clinical consequences of NOTCH2 mutations, we present detailed clinical information for seven patients with truncating mutations in exon 34 of NOTCH2, six with HCS and one with SFPKS. In addition, we review all the reported patients whose clinical manifestations are available. We found 13 manifestations including craniofacial features, acroosteolysis, Wormian bones, and osteoporosis in >75% of NOTCH2‐positive patients. Acroosteolysis was observed in two patients with SFPKS and bowing fibulae were found in two patients with HCS. These clinical and molecular data would support the notion that HCS and SFPKS are a single disorder. © 2013 Wiley Periodicals, Inc.
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome
Authors: Delio Maria , Pope Kathleen , Wang Tao , Samanich Joy , Haldeman‐Englert Chad R. , Kaplan Paige , Shaikh Tamim H. , Cai Jinlu , Marion Robert W. , Morrow Bernice E. , Babcock Melanie 
Published: February 2013

AbstractHaploinsufficiency of the elastin gene (ELN) on 7q11.23 is responsible for supravalvular aortic stenosis (SVAS) and other arteriopathies in patients with Williams–Beuren syndrome (WBS). These defects occur with variable penetrance and expressivity, but the basis of this is unknown. To determine whether DNA variations in ELN could serve as genetic modifiers, we sequenced the 33 exons and immediately surrounding sequence of the ELN gene (9,455 bp of sequence) in 49 DNAs from patients with WBS and compared cardiovascular phenotypes. Four missense, and four novel intronic variants were identified from a total of 24 mostly intronic single nucleotide variations and one indel. Two missense changes were present in one patient each, one published, p.Gly610Ser in exon 27 (MAF, 0.003) and one novel, p.Cys714Tyr, in exon 33 (MAF, 0.001), were rare in the general population. To identify a statistical association between the variants identified here and cardiovascular phenotypes a larger cohort would be needed. © 2013 Wiley Periodicals, Inc.
Ein Mitochondrium zum Selbstbauen
Authors: Högermann Christiane , Skenderovic Senada , Wagner Olga 
Published: February 2013

AbstractZum Verständnis der “Kraftwerkfunktion” eines Mitochondriums ist die genaue Vorstellung seines strukturellen Baus notwendig, denn nur so können die Abläufe der Zellatmung räumlich zugeordnet werden. Mit dem hier vorgestellten, preisgünstigen Modell lassen sich die wesentlichen Mitochondrienmerkmale zeigen.
Stereodynamics of Small 1,2‐Dialkyldiaziridines
Authors: Kamuf Matthias , Trapp Oliver 
Published: February 2013

ABSTRACTDiaziridines are very interesting representatives of organic compounds containing stereogenic nitrogen atoms. In particular, 1,2‐dialkyldiaziridines show extraordinarily high stereointegrity. The lone electron pairs of the nitrogen atoms are intransconfiguration, avoiding a four‐electron repulsive interaction. Furthermore, thetransconfiguration of the substituents at the nitrogen atoms is energetically favored because of reduced steric interactions. Therefore only two stereoisomers (enantiomers) are observed. At elevated temperatures the enantiomers are interconverting because of the limited stereointegrity of the chirotopic nitrogen atoms. The enantiomerization rate constants and the activation parameters of interconversion are of great interest. Here, we investigated the stereodynamics of a set of small 1,2‐dialkyldiaziridines bearing short substituents (Me, Et,iPr,tBu), using enantioselective dynamic gas chromatography (DGC). Separation of enantiomers of all compounds, including the highly volatile 1,2‐dimethyldiaziridine, was achieved using heptakis(2,3‐di‐O‐ethyl‐6‐O‐tert‐butyldimethylsilyl)‐β‐cyclodextrin in 50% PS086 (w/w) as chiral stationary phase in fused silica capillaries with a length of up to 50 m. Measurements at variable temperatures were performed and reaction rate constants were determined using the unified equation of chromatography implemented in the software DCXplorer. The activation barriers at room temperature for 1‐(tert‐butyl)‐2‐ethyldiaziridine, ΔG╪298K = 123.8 kJ mol–1(ΔH╪ = 115.5 ± 2.9 kJ mol–1, ΔS╪ = –28 ± 1 J mol–1 K–1), and 1‐ethyl‐2‐isopropyldiaziridine, ΔG╪298K = 124.2 kJ mol–1(ΔH╪ = 113.1 ± 2.4 kJ mol–1, ΔS╪ = –37 ± 2 J mol–1 K–1), were determined, representing some of the highest values observed for nitrogen inversion in diaziridines.Chirality 00:000–000, 2013.© 2013 Wiley Periodicals, Inc.
Ultrathin primary is a marker for worse prognosis in lymph node–positive cutaneous melanoma
Authors: Bagaria Sanjay P. , Ray Partha S. , Joseph Richard W. , Heckman Michael G. , Rawal Bhupendra , Gray Richard J. , Pockaj Barbara , Wasif Nabil 
Published: February 2013

AbstractBACKGROUND:Lymph lymph node metastasis from melanoma ≤0.50 mm (ultrathin) is an infrequent event. However, because many newly diagnosed melanomas are ultrathin, a significant proportion of patients who present with lymph node disease have an ultrathin melanoma. The authors hypothesized that ultrathin melanomas that present with lymph node metastasis represent biologically aggressive lesions with a worse prognosis.METHODS:The Surveillance, Epidemiology, and End Results registry data were queried to identify patients with cutaneous melanoma who presented with lymph node metastasis diagnosed between 1998 and 2008. Hazard ratios (HRs) from Cox proportional hazards regression models were used to compare disease‐specific survival (DSS) between various tumor depths.RESULTS:In total, 6134 patients with lymph node‐positive melanoma were identified and stratified according to tumor depth, including 588 (10%) with a tumor depth ≤0.50 mm, 519 (8%) with a tumor depth from 0.51 to 1.00 mm, 1669 (27%) with a tumor depth from 1.01 to 2.00 mm, 1871 (31%) with a tumor depth from 2.01 to 4.00 mm, and 1487 (24%) with a tumor depth >4.00 mm; and the respective 5‐year DSS rates were 63%, 76%, 75%, 60%, and 43%. Multivariable analysis confirmed a similar trend in HRs for DSS: The HR was 1.00 for a tumor depth ≤0.50 mm (reference category) and 0.64 (P < .001), 0.65 (P < .001), 0.95 (P = .57), and 1.42 (P < .001) for tumor depths of 0.51 to 1.00 mm, 1.01 to 2.00 mm, 2.01 to 4.00 mm, and >4.00 mm, respectively. This association of tumor depth with DSS persisted for N1 and N2 disease but not for N3 disease.CONCLUSIONS:Ultrathin melanoma (≤0.50 mm) was identified as a marker of poor prognosis in the setting of lymph node metastasis. These results may improve recommendations for adjuvant therapy, surveillance protocols, and risk stratification for clinical trials. Cancer 2013. © 2013 American Cancer Society.
Asymmetric Strecker Reaction with Chiral Amines: a Catalyst‐Free Protocol Using Acetone Cyanohydrin in Water
Authors: Pori Matteo , Galletti Paola , Soldati Roberto , Giacomini Daria 
Published: February 2013

AbstractThe synthesis of a series of new chiral α‐aminonitriles was achieved in a diastereoselective Strecker reaction in a one‐pot procedure with aldehydes, enantiopure amines, and acetone cyanohydrin in water. Primary and secondary amines derived from L‐α‐amino acids were used as sources of chirality. The reactions proceeded efficiently without any catalyst at room temperature. The diastereoselectivity of the process, and the configurational stability of new chiral α‐aminonitriles were investigated. The identification of labile intermediates by NMR analysis, and a proposed mechanism and a model for the asymmetric induction are reported. The chemical transformation of proline‐derived chiral α‐amino‐nitriles into chiral amino‐diacids, aminols, and amides is reported.
MODELING ENVIRONMENTAL AND HUMAN HEALTH RISKS OF VETERINARY MEDICINAL PRODUCTS APPLIED IN POND AQUACULTURE
Authors: Rico Andreu , Geng Yue , Focks Andreas , Van den Brink Paul J. 
Published: February 2013

Abstract

A model called ERA-AQUA was developed to assess the risks posed by the use of veterinary medicinal products (VMPs) applied in aquaculture ponds for the targeted produce, surrounding aquatic ecosystems, consumers, and trade of the aquaculture produce. The model calculates risks by following a risk quotient approach, calculating predicted exposure concentrations (exposure assessment) and predicted no-effect concentrations (effect assessment) for the endpoint under study. The exposure assessment is performed by combining information on the environmental characteristics of the aquaculture pond, characteristics of the cultured species, aquaculture management practices, and physicochemical properties of the compound under study. The model predicts concentrations of VMPs in the pond water, pond sediment, cultured species, and watercourse receiving pond effluent discharges by mass balance equations. The effect assessment is performed by combining (eco)toxicological information and food safety threshold concentrations for the studied compound. In the present study, the scientific background, strengths, and limitations of the ERA-AQUA model are presented together with a sensitivity analysis and an example showing its potential applications. Environ. Toxicol. Chem. 2013;32:1196–1207. © 2013 SETAC
TOXICITY AND TOXICOKINETICS OF BINARY COMBINATIONS OF PETROLEUM HYDROCARBON DISTILLATES WITH THE EARTHWORM EISENIA ANDREI
Authors: Cermak Janet , Stephenson Gladys , Birkholz Detlef , Dixon D. George 
Published: February 2013

Abstract

Petroleum hydrocarbons (PHCs) act via narcosis and are expected to have additive toxicity. However, previous work has demonstrated less-than-additive toxicity with PHC distillates and earthworms. A study was initiated to investigate this through toxicity and toxicokinetic studies with the earthworm Eisenia andrei. Three petroleum distillate fractions, F2 (&gt;C10–C16), F3a (&gt;C16–C23), and F3b (&gt;C23–C34), were used in two binary combinations, F2F3a and F3aF3b. In the toxicity study, clean soil was spiked with equitoxic combinations of the two distillates ranging from 0.5 to 2.5 toxic units. In the toxicokinetic study, a binary combination consisting of one concentration of each distillate was used. On a soil concentration basis, the toxicity of the binary combinations of distillates was less than additive. Accumulation of the individual distillates, however, was generally reduced when a second distillate was present, resulting in lower body burden. This is thought to be due to the presence of a nonaqueous-phase liquid at the soil concentrations used. On a tissue concentration basis, toxicity was closer to additive. The results demonstrate that tissue concentrations are the preferred metric for toxicity for earthworms. They also demonstrate that the Canada-wide soil standards based on individual distillates are likely protective. Environ. Toxicol. Chem. 2013;32:1016–1026. © 2013 SETAC
Arsenic geochemistry in a biostimulated aquifer: An aqueous speciation study
Authors: Stucker Valerie K. , Williams Kenneth H. , Robbins Mark J. , Ranville James F. 
Published: February 2013

Abstract

Stimulating microbial growth through the use of acetate injection wells at the former uranium mill site in Rifle, Colorado, USA, has been shown to decrease dissolved uranium (VI) concentrations through bacterial reduction to immobile uranium (IV). Bioreduction also changed the redox chemistry of site groundwater, altering the mobility of several other redox-sensitive elements present in the subsurface, including iron, sulfur, and arsenic. Following acetate amendment at the site, elevated concentrations of arsenic in the groundwater were observed. Ion chromatography-inductively coupled plasma–mass spectrometry was used to determine the aqueous arsenic speciation. Upgradient samples, unexposed to acetate, showed low levels of arsenic (≈1 μM), with greater than 90% as arsenate (As[V]) and a small amount of arsenite (As[III]). Downgradient acetate-stimulated water samples had much higher levels of arsenic (up to 8 μM), and 4 additional thioarsenic species were present under sulfate-reducing conditions. These thioarsenic species demonstrate a strong correlation between arsenic release and sulfide concentrations in groundwater, and their formation may explain the elevated total arsenic concentrations. An alternative remediation approach, enhanced flushing of uranium, was accomplished by addition of bicarbonate and did not result in highly elevated arsenic concentrations. Environ Toxicol Chem 2013;32:1216–1223. © 2013 SETAC
WHOLE SEDIMENT TOXICITY TESTS FOR METAL RISK ASSESSMENTS: ON THE IMPORTANCE OF EQUILIBRATION AND TEST DESIGN TO INCREASE ECOLOGICAL RELEVANCE
Authors: Vandegehuchte Michiel B. , Nguyen Lien T.H. , De Laender Frederik , Muyssen Brita T.A. , Janssen Colin R. 
Published: February 2013

Abstract

Current laboratory-based approaches for predicting metal toxicity in sediments exhibit a number of limitations. The most important are (1) a lack of sufficient equilibration resulting in unrealistically low pH values or unnaturally high porewater metal concentrations and (2) an inadequate test design regarding the metal concentrations selected for spiking. The present study illustrates that by explicitly accounting for these limitations, one obtains reliable and environmentally realistic toxicity data, thus advancing the metal risk assessments of sediments. To this end, a toxicity test design with natural sediments was developed in which the administered metal concentrations were selected to comprise a range of the difference between the molar concentration of simultaneously extracted metals and acid volatile sulfides (SEM-AVS) closely surrounding zero. In addition, the test design presented includes a 35- or 40-d equilibration period with overlying water renewal during which conductivity, pH, and metal concentrations in the overlying water are monitored. This allows toxicity testing to start after equilibrium for these parameters has been reached. This test design was applied to Ephoron virgo (Olivier, 1791), Gammarus pulex (Linnaeus, 1758), and Lumbriculus variegatus (Mueller, 1774) exposed to Zn and Pb. These tests indicated that the general concept of absence of toxicity when SEM-AVS &lt; 0 could not be rejected. However, the onset of Zn toxicity occurred at lower concentrations than generally assumed. Environ. Toxicol. Chem. 2013;32:1048–1059. © 2013 SETAC