bluuebunny/crossref_metadata_2025_split huggingface dataset:
Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β-Thalassemia
Authors: Lam Kwan-Wood G , Jiang Peiyong , Liao Gary J W , Chan K C Allen , Leung Tak Y , Chiu Rossa W K , Lo Y M Dennis 
Published: August 2012

Abstract

BACKGROUND
A genomewide genetic and mutational profile of a fetus was recently determined via deep sequencing of maternal plasma DNA. This technology could have important applications for noninvasive prenatal diagnosis (NIPD) of many monogenic diseases. Relative haplotype dosage (RHDO) analysis, a core step of this procedure, would allow one to elucidate the maternally inherited half of the fetal genome. For clinical applications, the cost and complexity of data analysis might be reduced via targeted application of this approach to selected genomic regions containing disease-causing genes. There is thus a need to explore the feasibility of performing RHDO analysis in a targeted manner.

METHODS
We performed target enrichment by using solution-phase hybridization followed by massively parallel sequencing of the β-globin gene region in 2 families undergoing prenatal diagnosis for β-thalassemia. We used digital PCR strategies to physically deduce parental haplotypes. Finally, we performed RHDO analysis with target-enriched sequencing data and parental haplotypes to reveal the β-thalassemic status for the fetuses.

RESULTS
A mean sequencing depth of 206-fold was achieved in the β-globin gene region by targeted sequencing of maternal plasma DNA. RHDO analysis was successful for the sequencing data obtained from the target-enriched samples, including a region in one of the families in which the parents had similar haplotype structures. Data analysis revealed that both fetuses were heterozygous carriers of β-thalassemia.

CONCLUSIONS
Targeted sequencing of maternal plasma DNA for NIPD of monogenic diseases is feasible.
Nichtlineare modellprädiktive Regelung basierend auf Fixpunktiterationen
Authors: Graichen Knut 
Published: August 2012

Zusammenfassung
Im Beitrag wird ein einfaches modellprädiktives Regelungsverfahren (MPC) für nichtlineare Systeme mit Stellgrößenbeschränkungen vorgestellt. Der Ansatz löst die Optimalitätsbedingungen mit Hilfe eines Fixpunktschemas, das sich durch eine einfache Implementierung und geringe Komplexität auszeichnet. Die numerische Effizienz und Regelgüte des MPC-Verfahrens werden anhand eines Simulationsbeispiels demonstriert. Abschließend verdeutlichen experimentelle Ergebnisse für einen Magnetschwebeversuch die Echtzeitfähigkeit und praktische Anwendbarkeit des Verfahrens.
Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia
Authors: Bachelot Anne , Chakhtoura Zeina , Plu-Bureau Geneviève , Coudert Mathieu , Coussieu Christiane , Badachi Yasmina , Dulon Jérome , Charbit Beny , Touraine Philippe 
Published: August 2012

ObjectiveWomen with classical congenital adrenal hyperplasia (CAH) exhibit reduced fertility due to several factors including anovulation. This has been attributed to a disturbed gonadotropic axis as in polycystic ovary syndrome (PCOS), but there is no precise evaluation. Our aim was to evaluate the gonadotropic axis and LH pulsatility patterns and to determine factor(s) that could account for the potential abnormality of LH pulsatility.DesignCase/control study.MethodsSixteen CAH women (11 with the salt-wasting form and five with the simple virilizing form), aged from 18 to 40 years, and 16 age-matched women, with regular menstrual cycles (28±3 days), were included. LH pulse patterns over 6 h were determined in patients and controls.ResultsNo differences were observed between patients and controls in terms of mean LH levels, LH pulse amplitude, or LH frequency. In CAH patients, LH pulsatility patterns were heterogeneous, leading us to perform a clustering analysis of LH data, resulting in a two-cluster partition. Patients in cluster 1 had similar LH pulsatility patterns to the controls. Patients in cluster 2 had: lower LH pulse amplitude and frequency and presented menstrual cycle disturbances more frequently; higher 17-OH progesterone, testosterone, progesterone, and androstenedione levels; and lower FSH levels.ConclusionsLH pulsatility may be normal in CAH women well controlled by hormonal treatment. Undertreatment is responsible for hypogonadotropic hypogonadism, with low LH pulse levels and frequency, but not PCOS. Suppression of progesterone and androgen concentrations during the follicular phase of the menstrual cycle should be a major objective in these patients.
Effects of substrate crystallinity on the on-state resistance of 6H–SiC photoconductive switches
Authors: Huang Wei , Chang Shao-Hui , Liu Xue-Chao , Shi Biao , Zhou Tian-Yu , Liu Xi , Yan Cheng-Fen , Zhen Yan-Qing , Yang Jian-Hua , Shi Er-Wei 
Published: August 2012

Abstract
Formation of levees and en-echelon shear planes during snow avalanche run-out
Authors: Bartelt Perry , Glover James , Feistl Thomas , Bühler Yves , Buser Othmar 
Published: August 2012

AbstractSnow avalanches often form levees and en-echelon shear planes in the run-out zone. We describe the formation of these depositional structures using a simple model that accounts for the role of granular fluctuations in avalanche motion. A mathematical feature of this model is the existence of a bifurcation saddle point, describing how granular fluctuations control the avalanche velocity in the runout zone. The saddle point discriminates between a flowing and stopping regime and defines the physical boundary between the flow and non-flow regions of the avalanche, i.e. the location of shear planes in the avalanche deposits. The formation of a shear plane depends on the interplay between terrain slope and avalanche mass flux, which varies from avalanche head to tail. Levees can form immediately at the avalanche front or, for steep slopes and low mass fluxes, at the avalanche tail. At ravine and gully shoulders the mass flux is restricted, thus initiating levee formation. We find that the levee lines are parallel to the flow direction when the mass flux is constant; en-echelon shear lines occur when the mass flux is decreasing. We test the model using several case studies where we have accurate laser scans of avalanche deposits. Our results suggest that avalanche flow parameters can be determined from simple levee measurements or, conversely, formation of levees and flow fingers can be predicted once the parameters governing the granular fluctuations are known.
Well-posed boundary conditions for limited-domain models of transient ice flow near an ice divide
Authors: Koutnik Michelle R. , Waddington Edwin D. 
Published: August 2012

AbstractWhen an ice-flow model is constrained by data that exist over only a section of an ice sheet, it is computationally advantageous to limit the model domain to only that section. For example, a limited domain near an ice-core site might cross an ice divide, and have no termini. Accurately calculating ice-sheet evolution in response to spatial and temporal variations in climate and ice flow depends on accurately calculating the transient ice flux crossing the limited-domain boundaries. In the absence of information from outside the limited domain, this is an ill-posed problem. Boundary conditions based only on information from inside the limited domain can produce ice-sheet evolution incompatible with the full ice sheet within which we suppose it to exist. We use impulse-response functions to provide boundary values that are informed by the external ice sheet, without conventionally 'nesting' the limited domain in a full ice-sheet model. Evolution within a limited domain can then be consistent with evolution of boundary conditions is designed for future use in affected the limited domain can be inferred from the full ice sheet. Our treatment of limited-domain an inverse problem in which external changes that data from within the limited domain.
Switching to Tenofovir/Emtricitabine from Abacavir/ Lamivudine in HIV-Infected Adults with Raised Cholesterol: Effect on Lipid Profiles
Authors: Behrens Georg , Maserati Renato , Rieger Armin , Domingo Pere , Abel Florian , Wang Hui , Pearce Gill 
Published: August 2012

Background The aim of this study was to investigate the effect on fasting lipid parameters of switching to tenofovir disoproxil fumarate (TDF) plus emtricitabine (FTC) from abacavir (ABC) plus lamivudine (3TC; both fixed-dose combinations), while maintaining ritonavir-boosted lopinavir (LPV/r). Methods This was an open-label randomized two-arm 12-week controlled study in virologically suppressed HIV-infected patients with elevated cholesterol (≥5.2 mmol/l). Patients stable on ABC/3TC plus LPV/r either continued treatment or switched to TDF/FTC plus LPV/r for 12 weeks. Standard efficacy and safety end points (including fasting lipids) were assessed. Results In total, 85 subjects were treated ( n=42 ABC/FTC and n=43 TDF/3TC). A statistically significant decrease in total cholesterol was observed in the TDF/FTC group: from median (IQR) 6.22 mmol/l (5.91–6.77) at baseline to 5.75 mmol/l (5.04–6.18) at week 12 (median [IQR] change from baseline -0.73 mmol/l [-1.20— 0.18]; P<0.001). No notable change was observed for the ABC/3TC group. The difference between groups at week 12 was -0.82 mmol/l ( P<0.001). For TDF/FTC (but not for ABC/3TC), statistically significant reductions ( P<0.05) from baseline were observed in total, low-density lipoprotein, high-density lipoprotein (HDL)-and non-HDL cholesterol (at weeks 4 and 12). Statistically significant decreases were observed in median estimated creatinine clearance (Cockcroft–Gault) from baseline to week 12 for patients who switched to TDF/FTC (-5.47 ml/ min) versus the ABC/3TC group (-2.15 ml/min; P=0.016 between groups). Virological suppression was maintained in both groups. No new safety issues were identified. Conclusions Switching to TDF/FTC from ABC/3TC was associated with rapid improvements in fasting lipid parameters and continued virological control in patients receiving LPV/r as the third component of antiretroviral therapy. The effect of these changes on clinical end points remains unclear and would need to be evaluated in a longer-term study.
Prison Prologues:
Authors: Susan Einbinder 
Published: August 2012

ABSTRACT
This article surveys medieval Jewish prison writings from Provence, Catalonia, and Orange, spanning the late thirteenth to the early fifteenth centuries. It asks what we can learn of the conditions of Jewish imprisonment and the types of literature it produced. While prison conditions varied greatly, prison writing unanimously expresses a commitment to the values and training that characterized its intellectual authors. The autobiographical prologues are assertions of “self” related to but distinct from the lyric and confessional forms of Christian prison literature. Jewish prison writers enlisted the prologues of technical works to relate their stories; examples of prison lyrics are few and idiosyncratic. Later writers were aware of contemporary enthusiasm for Boethius, as attested by two nearly contemporary Hebrew translations, one the result of the translator's imprisonment in Aragon. Further study of this literature is in order.
Age and growth of Pacific golden-eye tilefish (Caulolatilus affinis) in the central region of the Gulf of California
Authors: Ramírez-Pérez JS , Melo-Barrera FN , Ayala-Bobadilla LE 
Published: August 2012

Age, growth, and the length-weight relationship were estimated for the Pacific golden-eye tilefish Caulolatilus affinis captured by the artisanal fishery in the central region of the Gulf of California. The size and weight structure differed between sexes, males being larger and heavier than females; however, differences in the length-weight relationship were not detected and the slope value (b = 2.66) showed that it was a negative allometric relationship. The youngest and oldest organisms were 3 and 21 years old, respectively. The age structure showed differences between sexes, males being more abundant at older ages and females at younger ones. The dominant age group for females was 11 years old and for males, 16 years old. The von Bertalanffy growth model fitted adequately the mean size and age data; the model parameters were L∞ = 432.32 mm total length, k = 0.232 mm yr–1, and t0 = 0.164 yr for males, and L∞ = 422.99 mm total length, k = 0.245 mm yr–1, and t0 = –0.095 yr for females. Differences in individual growth and growth rate between males and females were not detected. According to the age structure and growth pattern, C. affinis is a slow-growing, medium-lived species. Our results suggest that C. affinis is underexploited in the central Gulf of California because it is a non-target species.
Strongly Correlated Materials
Authors: Morosan Emilia , Natelson Douglas , Nevidomskyy Andriy H. , Si Qimiao 
Published: August 2012

AbstractStrongly correlated materials are profoundly affected by the repulsive electron‐electron interaction. This stands in contrast to many commonly used materials such as silicon and aluminum, whose properties are comparatively unaffected by the Coulomb repulsion. Correlated materials often have remarkable properties and transitions between distinct, competing phases with dramatically different electronic and magnetic orders. These rich phenomena are fascinating from the basic science perspective and offer possibilities for technological applications. This article looks at these materials through the lens of research performed at Rice University. Topics examined include: Quantum phase transitions and quantum criticality in “heavy fermion” materials and the iron pnictide high temperature superconductors; computational ab initio methods to examine strongly correlated materials and their interface with analytical theory techniques; layered dichalcogenides as example correlated materials with rich phases (charge density waves, superconductivity, hard ferromagnetism) that may be tuned by composition, pressure, and magnetic field; and nanostructure methods applied to the correlated oxides VO2 and Fe3O4, where metal‐insulator transitions can be manipulated by doping at the nanoscale or driving the system out of equilibrium. We conclude with a discussion of the exciting prospects for this class of materials.
Katalyse mit primären Cinchona‐Aminen zur asymmetrischen Funktionalisierung von Carbonylverbindungen
Authors: Melchiorre Paolo 
Published: August 2012

AbstractDie asymmetrische Aminokatalyse verwendet chirale primäre und sekundäre Amine, um asymmetrische Reaktionen zu katalysieren. Methoden dieser Art haben die Funktionalisierung von Carbonylverbindungen stark vereinfacht und bieten zudem hohe Enantioselektivitäten. Jüngste Fortschritte in der Katalyse mit primären Cinchona‐Aminen haben neue Synthesemöglichkeiten und konzeptionelle Perspektiven aufgezeigt, um die großen Herausforderungen in der Carbonylchemie, die mit bisherigen Ansätzen nicht gelöst werden konnten, anzugehen. Dieser Aufsatz fasst die wichtigsten Meilensteine bei der Entwicklung dieser Katalysatorklasse im historischen Kontext zusammen.
Graphene and its application in fuel cell catalysis: a review
Authors: Hur Seung Hyun , Park Jin‐Nam 
Published: August 2012

ABSTRACTGraphene is considered a promising material for fuel cell vehicles because of its excellent chemical, mechanical, and electrical properties. Recent studies have revealed that using graphene or modified graphene as the catalyst support or as a metal‐free catalyst results in significant improvement in the electrocatalytic activity, long term durability, and CO tolerance. This article summarizes both the recent progress of graphene‐based fuel cell research and current developments in graphene fabrication processes such as mechanical exfoliation, chemical vapor deposition, and chemical exfoliation. The roles of graphene are also discussed by introducing mechanisms on the basis of theoretical calculations as well as experimental analysis. © 2012 Curtin University of Technology and John Wiley & Sons, Ltd.
Doing dissections differently: A structured, peer‐assisted learning approach to maximizing learning in dissections
Authors: Hall Emma R. , Davis Rachel C. , Weller Renate , Powney Sonya , Williams Sarah B. 
Published: August 2012

AbstractAreas of difficulty faced by our veterinary medicine students, with respect to their learning in dissection classes, were identified. These challenges were both general adult‐learning related and specific to the discipline of anatomy. Our aim was to design, implement, and evaluate a modified reciprocal peer‐assisted/team‐based learning format—Doing Dissections Differently (DDD)—to complement existing dissection classes, with the intention of enhancing both student learning and the student learning experience. Second year veterinary medicine students (n = 193), in their usual dissection groups, were randomly assigned to one of four roles: anatomist, clinician, radiologist, and learning resources manager. Students attended a preparatory workshop outlining the skills required for effective execution of their role. They were then asked to perform their roles throughout five consecutive musculoskeletal dissection classes. Student attitudes to dissection classes before and after DDD were evaluated by questionnaire (146 respondents). There was a significant (P = 0.0001) improvement after DDD in a number of areas: increased perceived value of dissection classes as an anatomy learning aid; improved appreciation of the clinical relevance of anatomy; increased use of resources before and during dissection classes; and longer preparation time for dissection classes. Before DDD, 45% of students felt that at least one peer did not contribute usefully to the group during dissection classes; no improvement was seen in this measure after DDD. Although the new format highlighted a potential need to improve teamwork, most students actively engaged with DDD, with dissection classes valued more highly and utilized more effectively. © 2012 American Association of Anatomists.
Development and validation of UPLC‐MS/MS method for determination of domperidone in human plasma and its pharmacokinetic application
Authors: Wang Xintao , Qin Feng , Jing Lijuan , Zhu Qiang , Li Famei , Xiong Zhili 
Published: August 2012

ABSTRACTA sensitive, rapid and selective ultra‐performance liquid chromatography–tandem mass spectrometric (UPLC‐MS/MS) method was developed for the determination and pharmacokinetic study of domperidone in human plasma. Diphenhydramine was used as the internal standard. Plasma sample pretreatment involved a one‐step liquid–liquid extraction with a mixture of diethyl ether–dichloromethane (3:2, v/v). The analysis was carried out on an Acquity UPLCTM BEH C18 column. The mobile phase consisted of methanol–water containing 10 mmol/L ammonium acetate and 0.5% (v/v) formic acid (60:40, v/v). The detection was performed on a triple quadrupole tandem mass spectrometer in multiple reaction monitoring mode via electrospray ionizationsource with positive mode. Each plasma sample was chromatographed within 2.1 min. The standard curves for domperidone were linear (r2 ≥ 0.99) over the concentration range of 0.030–31.5 ng/mL with a lower limit of quantification of 0.030 ng/mL. The intra‐ and inter‐day precision (relative standard deviation) values were not higher than 13% and accuracy (relative error) was from −7.6 to 1.2% at three quality control levels. The method herein described was superior to previous methods and was successfully applied to the pharmacokinetic study of domperidone in healthy Chinese volunteers after oral administration. Copyright © 2012 John Wiley & Sons, Ltd.
Expression of cyclins in high‐density cultured cells and in vivo tumor cells
Authors: Min Jiang , Wang Xiangyang , Tong Yixin , Li Xiaolan , Tao Deding , Hu Junbo , Xie Daxing , Gong Jianping 
Published: August 2012

AbstractIt is widely assumed that during the mammalian cell cycle, four major cyclins, including G1 cyclins (D, E) and mitotic cyclins (A, B1), are expressed in an orderly scheduled pattern in exponentially cultured cells. In high‐density cultured cells and in vivo growing cells, whether these cyclins are expressed in the same pattern remains unknown. In this study, we investigated the expression of cyclins by flow cytometry and western‐blotting in cultured MOLT‐4 and HepG2 cells at high‐density. We found that, in high‐density cultures, the expression levels of cyclin D, E, and A within each cell cycle phase was less than their levels in low‐density cultures. Cyclin B1 was slightly reduced in G2/M phase and unexpectedly expressed in G1 phase. The cyclin B1 expressed in G1 phase was localized mainly in the cytoplasm, and its level was positively correlated with apoptosis. Moreover, we obtained similar cyclins expression pattern in inoculated HepG2 tumor cells from immune‐deprived mice and leukemic cells from leukemia patients. These findings describe an altered pattern of cyclin expression in high‐density cultured cells as well as in vivo tumor cells. We suggest that high‐density cultures might mimic the in vivo growth conditions and such experimental situation may be useful for cell cycle research.
Interactive effects between diet and genotypes of host and pathogen define the severity of infection
Authors: Zhang Ji , Friman Ville‐Petri , Laakso Jouni , Mappes Johanna 
Published: August 2012

AbstractHost resistance and parasite virulence are influenced by multiple interacting factors in complex natural communities. Yet, these interactive effects are seldom studied concurrently, resulting in poor understanding of host‐pathogen‐environment dynamics. Here, we investigated how the level of opportunist pathogen virulence, strength of host immunity and the host condition manipulated via diet affect the survival of wood tiger moth Parasemia plantaginis (Arctidae). Larvae from “low cuticular melanin” and “high cuticular melanin” (considered as low and high pathogen resistance, respectively) selection lines were infected with moderately and highly virulent bacteria strains of Serratia marcescens, while simultaneously manipulating host diet (with or without antibacterial compounds). We measured host survival and food preference before and after infection to test whether the larvae “self‐medicate” by choosing an anti‐infection diet (Plantago major, i.e., plantain leaf) over lettuce (Lactuca sativa). “High melanin” larvae were more resistant than “low melanin” larvae to the less virulent strain that had slower growth and colonization rate compared with the more virulent strain. Cuticular melanin did not enhance survival when the larvae were infected with the highly virulent strain. Anti‐infection diet enhanced survival of the “high melanin” but not the “low melanin” hosts. Survival was dependent on family origin even within the melanin selection lines. Despite the intrinsic preference for lettuce, no evidence of self‐medication was found. These results demonstrate that the relative benefit of host cuticular melanin depends on both diet and pathogen virulence: plantain diet only boosted the immunity of already resistant “high melanin” hosts, and cuticular melanin increased host survival only when infected with moderately virulent pathogen. Moreover, there was considerable variation in host survival between families within both melanin lines suggesting genetic basis for resistance. These results indicate that although melanin is an important predictor of insect immunity, its effect on disease outcomes greatly depends on other interacting factors.