bluuebunny/crossref_metadata_2025_split huggingface dataset:
Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
Authors: Wieacker Isabelle , Peter Michael , Borucki Katrin , Empting Susann , Roehl Friedrich-Wilhelm , Mohnike Klaus 
Published: July 2015

Abstract
Careful monitoring of the therapy is crucial for patients with congenital adrenal hyperplasia (CAH) in order to prevent the effects of increased androgen production as well as life-threatening salt-wasting crisis. The key metabolite, 17α-hydroxyprogesterone (17-OHP) can be detected in serum, saliva or dried blood. In clinical practice there are challenges due to discomfort of venous blood sampling and complicated retrieval of saliva during infancy. Furthermore, the immunoassay method is limited in its specificity due to cross-reactions. In this observational study we prospectively examined over a period of 5 years, 20 patients with CAH due to 21-hydroxylase deficiency using standard immunoassays for serum samples (radioimmunoassay and enzyme immunoassay) and liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spots. Bland-Altman plots show goodness of agreement between both the methods for the desirable therapeutic concentration range of 17-OHP. LC-MS/MS is characterized by a high accuracy in the therapeutic concentration range of 17-OHP <100 nmol/L (r=0.91). Dried blood samples are convenient and reliable specimen for 17-OHP measured by LC-MS/MS. This method could be used for home monitoring of hydrocortisone replacement therapy both in salt-waster and simple virilizer CAH.
17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
Authors: Sagsak Elif , Aycan Zehra , Savas-Erdeve Senay , Keskin Meliksah , Cetinkaya Semra , Karaer Kadri 
Published: July 2015

Abstract17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) is present almost exclusively in the testes, and converts androstenedione (A) to testosterone (T). 17βHSD-3 deficiency is rare. The diagnosis can be missed in early childhood as the clinical presentation may be subtle. The most frequent presentation of 17 HSD-3 deficiency is a 46,XY individual with female external genitalia, labial fusion and a blind ending vagina, with or without clitoromegaly. A low testosterone/androstenedion (T/A) ratio is suggestive of 17βHSD-3 deficiency, and such diagnosis can be confirmed with molecular genetic studies. A 12-day newborn was referred to our hospital because of palpable gonads in the labia majora. On physical examination, the baby had female external genitalia and palpable gonads in the labia majora. T/A ratio was 0.26 and the diagnosis was 17βHSD-3 deficiency, which was confirmed by the evidence of compound heterozygousity novel frameshift mutations in exon 9 and 10 of
Congenital adrenal hyperplasia in children – a survey on the current practice in the UK
Authors: Niranjan Usha , Natarajan Anuja 
Published: July 2015

AbstractCongenital adrenal hyperplasia (CAH) in children varies in presentation and progression with several challenges in optimal management. Effective treatment is to achieve normal growth and development while avoiding adrenal crisis and hyperandrogenisation.Our aim was to ascertain the current practice in the UK on CAH management in children in comparison with the recommendations made by the Endocrine Society.An online survey was emailed to the British Society of Paediatric Endocrinology (BSPED) members requesting a response from each centre regarding CAH management.The survey was completed by 35 out of 92 centres (38% response rate). Tertiary centres constituted 22/35, while 8/35 were district general hospitals providing tertiary services. Treatment varied among centres with 25/35 using 10–15 mg/mOur survey highlights the diversity in managing children with CAH in the UK as compared with the recommendations of the Endocrine Society. It also demonstrates inconsistent involvement of essential specialist services, which are essential for optimal management of this condition.
Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
Authors: Grover Monica , French Shannon , Yazdani Parvin 
Published: July 2015

AbstractThe 45,X disorder of sexual differentiation (DSD) is a rare disorder. We report long-term follow-up of a 5-year-old African-American male whose evaluation for short stature revealed a karyotype of 45,X der(X)t(X;Y)(p22.3;p11.2)(SRY+). Presence of the
Successful use of continuous subcutaneous hydrocortisone infusion after bilateral adrenalectomy secondary to bilateral pheochromocytoma
Authors: Broussard Julia R. , Mitre Naim 
Published: July 2015

AbstractWe report the use of continuous subcutaneous hydrocortisone infusion in an adolescent patient with primary adrenal insufficiency. This novel hydrocortisone delivery method proved to be a feasible, well-tolerated and safe option for selected patients with poor response to conventional therapy.
Cytometric analysis of perforin expression in NK cells, CD8+, and CD4+ lymphocytes in children with autoimmune Hashimoto’s thyroiditis – a preliminary study
Authors: Popko Katarzyna , Osińska Iwona , Kucharska Anna , Demkow Urszula 
Published: July 2015

AbstractPerforin plays an essential role in cytotoxicity of natural killers (NK) and CD8+ lymphocytes. Cytotoxicity of T and NK cells is one of the mechanisms of destruction of cells in Hashimoto’s disease (HD). The aim of this study was analysis of the expression of perforin in CD8+, CD4+, and NK cells and cytotoxic abilities of these cells in children with HD compared to healthy controls. The expression of perforin and surface antigens, as well as cytotoxicity were analyzed with a flow cytometry. Lower expression of perforin in CD8+ and NK was found in HD compared to controls (p=0.01; p=0.004). A significant correlation between perforin expression in CD8+ lymphocytes and in NK was observed (p=0.05). The spontaneous cytotoxicity of NK was significantly higher in HD compared to controls (p=0.04). Our results suggest that perforin plays an important role in the pathogenesis of autoimmune Hashimoto’s thyroiditis.
A Relevance–Theoretical Account of Three Arabic Pragmatic Operators of Concession in a Political Discourse
Authors: Al-Jarrah Rasheed S. , Abu Dalu Ahmad M. , Jarrah Marwan 
Published: July 2015

AbstractThe present study aims at explaining how the Relevance Theory could be a viable approach to weigh up the main functions of some concessive Pragmatic Operators (henceforth POs) in Jordanian Arabic at the production and interpretation levels. A sample of twenty-two speeches delivered by members of the Jordanian Parliament the 16th was randomly selected for scrutiny. Three POs (namely, laakin, bal and wa) detected in their speeches were analyzed at the token level in light of three elementary RT assumptions about discourse connectives in general, namely connectivity (Fraser 1996), the conceptual-procedural distinction (Blakemore 1987, 1988, 1992, 2002; Wilson and Sperber 1993; Grice 1989), and monosemy (Fretheim 2000; cf. Borderia 2008). The major finding of this study was that concessive POs, as a subset of contrastives, are used to optimize relevance: highlight certain dimensions and/or suppress others of the scenario to the background. However, the point of departure from possibly all previous treatments is that the speakers, as politicians, still used them more strategically because total ambiguity resolution should not be a viable alternative in social settings laden with politics.
Peristaltic Transport of Visco-Elasto-Plastic Fluids in a Planar Channel
Authors: Asghar Zaheer , Ali Nasir 
Published: July 2015

Abstract
We numerically investigate peristaltic transport of incompressible visco-elasto-plastic fluids in a two-dimensional symmetric channel. The constitutive equation used for extra stress tensor is of more general form as it includes a number of well-known models like Maxwell A and B, Johnson–Segalman, Oldroyd-B, and Bingham models as its special cases. A detailed mathematical modelling of the problem is presented. The flow equations in the wave frame reduce to a single nonlinear ordinary differential equation in stream function by the implication of widely taken assumptions of long wavelength and low Reynolds number. The solution of the problem is obtained by two ways; namely, shooting method and Matlab built in routine bvp4c, and their comparison shows an excellent agreement. A parametric study based on bvp4c solution is performed to see the effects of parameters on velocity profile, pressure rise per wavelength, frictional forces, and trapping phenomenon.
Photoionization Yields in Intense fs-Laser Fields – A Systematic Investigation of Chirp Effects
Authors: Reusch Nicola , Griebe Steffen , Karges Johannes , Weitzel Karl-Michael 
Published: July 2015

Abstract
The femtosecond laser ionization of several small hydrocarbon
molecules (methane, ethane, propane) has been investigated as
a function of the second order spectral phase (linear chirp)
of laser pulses centered at λ = 807 nm. Ion
yields are demonstrated to depend markedly on the linear chirp
parameter. At laser intensities exceeding
5 · 1014 W/cm2 the ionization characteristics resemble
an intensity-driven process, i.e. the largest ion yield is
observed for a close to transform-limited laser pulse. For
smaller laser intensities a pronounced sign effect in the
chirp dependence appears, i.e. the maximum ion yield is
observed for a negative linear chirp parameter of several
hundred to thousand fs2. We suggest that this sign
effect is connected to the anharmonicity of the electronic
potentials involved. This suggestion is supported by the fact
that basically no sign effect in the chirp dependence is
observed for the noble gases argon, krypton and xenon. We
further suggest that the electronic polarizability and
structure plays some role as methanol does not show a marked
sign-dependent chirp effect.
The Reaction Kinetics of Amino Radicals with Sulfur Dioxide
Authors: Gao Yide , Glarborg Peter , Marshall Paul 
Published: July 2015

Abstract
Application of the laser photolysis–laser-induced fluorescence method
to the reaction NH2 + SO2 in argon bath gas yields
pressure-dependent, third-order kinetics which may be summarized as
k = (1.49 ± 0.15) × 10−31
(T/298 K)−0.83 cm6 molecule
–2 s
–1
over 292–555 K, where the uncertainty is the
95% confidence interval and includes possible systematic
errors. The quenching of vibrationally excited NH2 is
consistent with a high-pressure limit for
NH2 + SO2 of (1.62 ± 0.25) × 10−11 cm3 molecule
–1 s
–1 over the temperature
range 295–505 K, where again the 95% confidence
interval is shown. Ab initio analysis yields
a H2N–SO2 dissociation enthalpy of
73.5 kJ mol
–1, and comparison with RRKM theory and the
exponential down model for energy transfer yields 〈ΔE〉down = 350 cm
–1 for Ar at
room temperature.
What Use Is Population Genetics?
Authors: Charlesworth Brian 
Published: July 2015

Abstract
The Genetic Society of America’s Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth’s research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation.
“Wrecks of Ancient Life”: Genetic Variants Vetted by Natural Selection
Authors: Postlethwait John H 
Published: July 2015

Abstract
The Genetics Society of America’s George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake as a respected academic, administrator, and public servant. The 2015 recipient is John Postlethwait. He has made groundbreaking contributions in developing the zebrafish as a molecular genetic model and in understanding the evolution of new gene functions in vertebrates. He built the first zebrafish genetic map and showed that its genome, along with that of distantly related teleost fish, had been duplicated. Postlethwait played an integral role in the zebrafish genome-sequencing project and elucidated the genomic organization of several fish species. Postlethwait is also honored for his active involvement with the zebrafish community, advocacy for zebrafish as a model system, and commitment to driving the field forward.
Under Tension: Kinetochores and Basic Research
Authors: Biggins Sue 
Published: July 2015

Abstract
The Genetics Society of America’s Edward Novitski Prize recognizes an extraordinary level of creativity and intellectual ingenuity in the solution of significant problems in genetics research. The 2015 winner, Sue Biggins, has made significant contributions to our understanding of how chromosomes attach to the mitotic spindle, a process essential for cell division and frequently impaired in cancer. Among other achievements, Biggins was the first to demonstrate that the Aurora B protein kinase is a key regulator of kinetochore function and that chromatin composition and centromere identity can be regulated by histone proteolysis. In 2010, Biggins and her colleagues were the first to purify kinetochores and, using this system, have already made several groundbreaking discoveries about the function and structure of these crucial components of the segregation machinery.
Transversal Competences of University Students of Engineering/Transverzalne kompetencije studenata strojarstva
Authors: Hernandez-Linares Remedios , Agudo J. Enrique , Rico Mercedes , Sánchez Héctor 
Published: July 2015

AbstractOne of the key changes of the European Higher Education Area is the implementation of a competence-based educational system. Students are now more than ever the axis around which the university system orbits. The competences that students should acquire during their studies include transversal competences, which are those competences related to leadership skills, problem solving, and teamwork, highly valued by labor market. This is particularly important in engineering, as these skills can influence the selection of one candidate over another. So, the evaluation and teaching of these kinds of competences are now some of the main challenges facing university professors as the corresponding learning objectives need to be set and assessed, both for study programs as well as for each individual subject, and this process is new for teachers. Focusing precisely on this aspect, our work, based on an empirical study conducted with a sample of 102 engineering students from the University Center of Merida, uses a tool to measure the progress of such students in different transversal competences. This tool not only allows us to evaluate the level of competence development, but also allows us to detect students’ areas of weakness in cross-curricular training that can then be addressed. Key words: the Bologna process; competence based education; engineering education; higher education; labor market.---SažetakJedna od glavnih promjena europskog prostora visokog obrazovanja jest uspostava obrazovnog sustava uutemeljenog na kompetencijama. Studenti su u današnje vrijeme više nego ikada u središtu oko kojega se vrti sveučilišni obrazovni sustav. Kompetencije koje bi studenti trebali steći tijekom svojeg studiranja uključuju transverzalne kompetencije, tj. one koje su povezane s vještinama rukovođenja, rješavanja problema i sa sposobnošću rada u timu, a koje su visoko cijenjene na tržištu rada. Te su osobine iznimno važne u strojarstvu, jer one mogu dati prednost kandidatu koji ih posjeduje. Dakle, evaluacija i poučavanje tim vrstama vještina sada predstavljaju glavne izazove s kojima se sveučilišni profesori suočavaju, jer se odgovarajući obrazovni ishodi moraju postaviti i ocijeniti, i za sveučilišne studijske programe i za svaki pojedinačni kolegij, a taj je proces nastavnicima potpuno nov. Usredotočujući se upravo na taj aspekt, naš rad, koji se temelji na empirijskom istraživanju provedenom na uzorku od 102 studenta strojarstva sa Sveučilišnog centra u Meridi, koristi se alatom kojim možemo utvrditi napredak tih studenata u području različitih transverzalnih kompetencija. Taj alat ne samo da nam omogućava procjenu stupnja razvoja kompetencija nego nam također omogućava prepoznavanje slabih područja studenata u međukurikularnom obrazovanju, na kojima se kasnije može dodatno raditi.Ključne riječi: Bolonjski proces; obrazovanje uutemeljeno na kompetencijama; obrazovanje u području strojarstva; tržište rada; visoko obrazovanje.
Brazilian tropical fishes in their southern limit of distribution: checklist of Santa Catarina’s rocky reef ichthyofauna, remarks and new records
Authors: Anderson Antônio Batista , Carvalho-Filho Alfredo , Morais Renato Araujo , Nunes Lucas Teixeira , Quimbayo Juan Pablo , Floeter Sergio Ricardo 
Published: July 2015

We present a checklist of 278 species of reef fishes recorded along the coastline of Santa Catarina state, the southernmost limit of distribution of tropical ichthyofauna on the coast of Brazil. Twelve new species records for this state are presented: Acanthurus coeruleus, Acanthurus monroviae, Apogon americanus, Cantherhines macrocerus, Chaetodon sedentarius, Chromis flavicauda, Clepticus brasiliensis, Decapterus punctatus, Gymnothorax vicinus, Herpetoichthys regius, Muraena retifera and Stegastes partitus. Stegastes partitus and H. regius are reported for the first time, respectively, from the Southwestern Atlantic and for the coastal part of this region, while Acanthurus monroviae is reported for the second time for the Southwestern Atlantic. We present habitat distribution, trophic structure and comment on biogeographic affinities of this transitional region, discussing both remarkable species presences and absences.
Corrosion barriers for silver-based telescope mirrors comparing PEALD and PVD of AlOx
Authors: Fryauf David M. , Phillips Andrew C. , Kobayashi Nobuhiko P. 
Published: July 2015

ABSTRACTAstronomical telescopes continue to demand high-endurance high-reflectivity silver mirrors that can withstand years of exposure in earth-based observatory environments. The University of California Observatories Astronomical Coatings Lab has undertaken development of protected silver coatings suitable for telescope mirrors that maintain high reflectivity at wavelengths from 340 nm through the mid-infrared spectrum. We present promising results of enhanced corrosion barriers using plasma-enhanced atomic layer deposition (PEALD) of aluminum oxide (AlOx) as a top barrier layer. Novel coating recipes developed with ion-assisted electron beam deposition (IAEBD) of materials including yttrium fluoride and oxides of yttrium, tantalum, and silicon are used to compare the endurance of physical vapor deposition-grown barriers with PEALD-grown barriers of similar thickness. Samples of these mirror coatings were covered with conformal layers of AlOx deposited by PEALD using trimethylaluminum as a metal precursor and plasma-activated oxygen as an oxidant gas. Samples of coating recipes with and without PEALD oxide undergo aggressive high temperature/high humidity (HTHH) environmental testing in which samples are exposed to an environment of 80% humidity at 80°C for ten days in a simple test set-up. HTHH testing show visible results suggesting that the PEALD oxide offers enhanced robust protection against chemical corrosion and moisture from an accelerated aging environment. Mirror samples are further characterized by reflectivity/absorption before and after deposition of oxide coatings. AlOx is suitable for many applications and has been the initial material choice for this study.
Risikofaktoren für ein erhöhtes Abortvorkommen in Milchviehbetrieben – eine statistische Analyse
Authors: Müller S. , Gajewski Z. , Failing K. , Wehrend A. 
Published: July 2015

ZusammenfassungGegenstand und Ziel: Durch Datenanalyse in Milchviehherden sollte die Frage beantwortet werden, ob sich Herden mit und ohne Abortproblematik hinsichtlich verschiedener Betriebsfaktoren und der Betriebs prävalenz von Antikörpern gegen verschiedene Infektionserreger unterscheiden. Material und Methoden: Es wurden Haltungsfaktoren, klinische Untersuchungsbefunde und serologische Ergebnisse aus 48 Milchviehbetrieben in Mittelhessen erfasst. Erhobene Parameter waren der Umfang des Zukaufs von Tieren zur Bestandsremontierung, die Haltungsform, die Art der Belegung und die Nutzung einer Geburtsbox. Bei einer Stichprobe jeder Herde, die aus mindestens drei gesunden trockenstehenden Kühen, drei klinisch gesunden Tieren im Puerperium, drei Tieren nach einem Abort und drei klinisch gesunden trächtigen Färsen bestand, erfolgte eine Bestimmung des Body Condition Score und eine klinisch-gynäkologische Untersuchung. Weiterhin wurden Serumproben dieser Tiere auf Antikörper gegen das Virus der Bovinen Virusdiarrhö, Coxiellen, Listerien und Neo spora caninum untersucht. Es fand ein Vergleich zwischen Betrieben mit und ohne Abort problematik statt. Ergebnisse: Insgesamt wurden Daten von 591 Einzeltieren aus 48 Betrieben erhoben. In 38 Herden bestand eine Abortproblematik. Betroffene Betriebe nutzten signifikant häufiger eine Geburtsbox und hielten ihre Tiere häufiger in Laufställen als Betriebe ohne Abortproblematik (p < 0,05). Die Anzahl an Tieren mit Antikörpern gegen Coxiellen war in Betrieben mit Abortproblematik signifikant höher (p = 0,03). Hinsichtlich des Nachweises von Antikörpern gegen Listerien und Neospora caninum ließ sich kein signifikanter Unterschied zwischen Betrieben mit bzw. ohne Abortproblematik feststellen (p > 0,05). Schlussfolgerungen: Neben infektiösen Ursachen konnten Haltungsumstände, die eine Ausbreitung von Erregern in der Herde begünstigen, als Risikofaktoren für das Auftreten von Aborten in Milchviehherden identifiziert werden. In Betrieben mit Abortproblematik müssen neben erregerausgerichteten Maßnahmen auch Maßnahmen zur Vermeidung der Ansteckung von Tier zu Tier ergriffen werden. Die Abkalbebox scheint dabei ein wichtiger Kontrollpunkt zu sein.
A regulação de aditivos que conferem sabor e aroma aos produtos derivados do tabaco no Brasil
Authors: Turci Silvana Rubano Barretto , Figueiredo Valeska Carvalho , Silva Vera Luiza da Costa e 
Published: July 2015

A Agência Nacional de Vigilância Sanitária (ANVISA) proibiu, por meio da Resolução da Diretoria Colegiada nº 14, de 2012, o uso de aditivos que conferem aroma e sabor aos produtos derivados do tabaco, com o objetivo de reduzir a experimentação e iniciação por crianças e jovens já que o emprego dessas substâncias, que caracterizam sabores e reduzem a aspereza da fumaça, os tornam mais atraentes e palatáveis. A Organização Mundial da Saúde (OMS) considera o tabagismo como uma doença pediátrica pois 90% dos fumantes começam a fumar antes dos 19 anos e quanto mais cedo se iniciam no uso do tabaco, mais rapidamente eles se tornam dependentes. No Brasil, os custos do tratamento das doenças tabaco-relacionadas chegam a R$ 21 bilhões/ano. Proibir os aditivos é uma importante medida de saúde pública, em consonância com os artigos 9 e 10 e Guias Parciais de Implementação da Convenção-Quadro para o Controle do Tabaco da OMS (CQCT/OMS), tratado ratificado pelo Brasil em 2005. Esses artigos versam sobre a regulamentação do conteúdo e a divulgação de informações dos produtos do tabaco, respectivamente. O artigo faz uma análise do processo regulatório no Brasil, elencando os principais eventos relacionados e sugerindo uma interferência direta da indústria fumageira e de grupos de interesse na tomada de decisão e na implementação da RDC14/2012. Apesar do esforço da Anvisa e de pareceres favoráveis da Advocacia Geral da União e da Procuradoria Geral da República quanto à constitucionalidade da medida, a indústria do tabaco tem procurado adiar sua entrada em vigor, prevista para setembro/2013, mas ainda pendente de decisão do Supremo Tribunal Federal.