bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical outcomes of preimplantation genetic diagnosis (PGD) and analysis of meiotic segregation modes in reciprocal translocation carriers
Authors: Ko Duck Sung , Cho Jae Won , Park So Yeon , Kim Jin Young , Koong Mi Kyoung , Song In Ok , Kang Inn Soo , Lim Chun Kyu 
Published: May 2010

AbstractBalanced reciprocal translocation is the most common chromosome rearrangement, with an incidence of 1 out of 625 newborns. In reciprocal translocation carriers, genetically unbalanced gametes can be produced through three principal modes of segregation: adjacent‐1, adjacent‐2 and 3:1. In this study, we reviewed 133 cycles of preimplantation genetic diagnosis (PGD) for 65 couples with reciprocal translocation and analyzed pregnancy outcomes and the meiotic segregation mode of gametes of the translocation carriers using fluorescent in situ hybridization (FISH). We found that 285 of 1,508 embryos (18.9%) were normal or balanced. Thirty‐three clinical pregnancies, including eight spontaneous abortions (21.6% per couple), were established. According to the meiotic segregation analysis, the frequencies of 3:1 and 4:0 segregation modes were significantly higher (P < 0.05) in female carriers, and the frequencies of adjacent‐1 and chaotic segregation modes were significantly higher (P < 0.05) in male carriers. Our results indicate that meiotic segregation might be affected by the carrier's sex but not by the carrier's age or breakpoints. © 2010 Wiley‐Liss, Inc.
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field
Authors: Mølsted Kirsten , Boers Maria , Kjær Inger 
Published: May 2010

AbstractWe described the morphology of the sella turcica in individuals with velocardiofacial syndrome (VCFS), also known as chromosome 22q11.2 deletion syndrome, and compared the morphology with that of a control group of individuals from the Oslo University Craniofacial Growth Archive. The aim was to measure the cranial base angles in individuals with VCFS and, if possible, to discover the developmental field that may be involved in the condition. The study included 33 patients with VCFS from the Copenhagen Cleft Palate Center, Denmark. The genotype was confirmed by fluorescence in situ hybridization. The morphology of the sella turcica was described and measurements of the cranial base angles were performed on lateral cephalometric radiographs. The VCFS individuals had larger deviations in the morphology of the sella turcica compared to individuals from the Oslo University Craniofacial Growth archive. The deviations were mostly in the posterior part of the dorsum sellae. Individuals with VCFS had increased cranial base angles. The results of this study combined with the information in the literature on the main defects in VCFS (palatal abnormalities, cardiac anomalies, thymic hypoplasia or aplasia, hypothyroidism, and posterior brain abnormality), suggest involvement of a specific developmental field. © 2010 Wiley‐Liss, Inc.
Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi‐exon deletion
Authors: Bottillo Irene , Torrente Isabella , Lanari Valentina , Pinna Valentina , Giustini Sandra , Divona Luigina , De Luca Alessandro , Dallapiccola Bruno 
Published: May 2010

AbstractWe report on the clinical and molecular features of a family in which neurofibromatosis type 1 (NF1) occurred in two of three siblings born to unaffected parents and in one granddaughter. Linkage analysis showed that the two affected siblings and the daughter of one of them shared the same paternal allele, whereas they had inherited different maternal alleles. We detected a disease‐causing deletion (c.4773‐3622‐?_5749+?del) encompassing three NF1 gene exons in affected individuals. This mutation occurred on the paternally derived allele, arguing for a germline mosaicism in the probands' father. Real‐time PCR showed that the mutation was present in about 10–17% of the paternal sperms. Current results confirm that germline mosaicism can explain the recurrence of NF1 in offspring of unaffected parents. © 2010 Wiley‐Liss, Inc.
Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
Authors: Solomon Benjamin D. , Lange Eileen , Shubrook Jay , Service F. John , Herman Gail , Karne Rajaram J. , Gorden Phillip , Muenke Maximilian , Stratakis Constantine A. 
Published: May 2010

AbstractWe present a 56‐year‐old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb deletion of chromosome 8q24.11q24.13 containing more than 39 genes, as well as a duplication of 20q11.23 containing one gene. The deleted region overlaps that of two previously reported patients, who share a subset of clinical characteristics with the patient described here. Some of this patient's clinical features are consistent with the loss of genes in the deleted region. The diagnostic work‐up of this patient clearly demonstrates the evolution of genetic testing techniques. Published 2010 Wiley‐Liss, Inc.
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG
Authors: Gucev Zoran S. , Tasic Velibor , Pop‐Jordanova Nada , Sparrow Duncan B. , Dunwoodie Sally L. , Ellard Sian , Young Elizabeth , Turnpenny Peter D. 
Published: May 2010

AbstractThe spondylocostal dysostoses (SCDs) are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV) and abnormality of the thoracic cage with mal‐aligned ribs and often a reduction in rib number. The four known monogenic forms of SCD follow autosomal recessive inheritance, have generalized SDV, a broadly symmetrical thoracic cage, and result from mutations in Notch signaling pathway genes—DLL3, MESP2, LFNG, and HES7. Autosomal dominant (AD) SCD has been reported less often, is very variable, and molecular genetic mechanisms remain elusive. Here, we report a three‐generation, non‐consanguineous family with four affected individuals demonstrating multiple or generalized SDV. Scoliosis was present and the trunk shortened but the ribs were relatively mildly affected. There were no other significant organ abnormalities, no obvious dysmorphic features, neurodevelopment was normal, and all investigations, including mutation analysis of DLL3, MESP2, LFNG, and HES7, were normal. A non‐pathogenic variant was detected in LFNG but it did not segregate with the phenotype. This Macedonian kindred adds to knowledge of AD SCD and to our knowledge is the first to be tested for the four Notch pathway genes known to be associated with SCD. © 2010 Wiley‐Liss, Inc.
Synthesis and characterization of novel porous SiO2 material functionalized with C,C‐pyridylpyrazole receptor
Authors: Radi Smaail , Attayibat Ahmed , Ramdani Abdelkrim , Bacquet Maryse 
Published: May 2010

AbstractA simple heterogeneous synthesis of pure modified porous polysiloxane SiO2 by condensing a functionalized C,C‐pyridylpyrazole with a 3‐glycidoxy‐propyltrimethoxy‐silane silylant agent, previously anchored on a silica surface is reported. The epoxide group was opened yielding a receptor pendant group bonded to the inorganic surface. The surface modification (MS) was characterized by elemental analysis, infrared spectra, nitrogen adsorption–desorption isotherm, BET surface area and B.J.H. Pore sizes. The new material exhibits good chemical and thermal stability determined by thermogravimetry curves. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Association of autistic spectrum disorder with season of birth and conception in a UK cohort
Authors: Hebert Karen J. , Miller Laura L. , Joinson Carol J. 
Published: May 2010

AbstractPurpose: To examine the association between autistic spectrum disorder (ASD) and seasons of conception and birth in a UK birth cohort: Avon Longitudinal Study of Parents and Children (ALSPAC). Methods: Seasons of conception and birth were compared in children with and without ASD with season grouped as follows: spring (March–May); summer (June–August); autumn (September–November) and winter (December–February). Results: A total of 86 children with ASD were identified in the ALSPAC cohort giving a prevalence of ASD of 61.9 per 10,000. There was some evidence for an excess of children with ASD being conceived during the summer months with a rate per 1,000 conceptions of 9.5 in summer compared to 5.1, 4.6, 5.7 in spring, autumn and winter, respectively. A doubling of the odds was suggested for summer compared to autumn (Odds ratio 2.08 [1.18, 3.70]). In agreement with previous research, there was a corresponding peak in spring births. Conclusion: Conception during the summer months was associated with an over‐representation of children with ASD in this UK birth cohort. There was also an association between ASD and spring births. Further investigation of seasonal influences on the aetiology of autism is required to identify possible factors in the environment, and their mechanisms and timings.
A High‐Throughput Screen for Chemical Inhibitors of Exocytic Transport in Yeast
Authors: Zhang Lisha , Nebane N. Miranda , Wennerberg Krister , Li Yujie , Neubauer Valerie , Hobrath Judith V. , McKellip Sara , Rasmussen Lynn , Shindo Nice , Sosa Melinda , Maddry Joseph A. , Ananthan Subramaniam , Piazza Gary A. , White E. Lucile , Harsay Edina 
Published: May 2010

AbstractMost of the components of the membrane and protein traffic machinery were discovered by perturbing their functions, either with bioactive compounds or by mutations. However, the mechanisms responsible for exocytic transport vesicle formation at the Golgi and endosomes are still largely unknown. Both the exocytic traffic routes and the signaling pathways that regulate these routes are highly complex and robust, so that defects can be overcome by alternate pathways or mechanisms. A classical yeast genetic screen designed to account for the robustness of the exocytic pathway identified a novel conserved gene, AVL9, which functions in late exocytic transport. We now describe a chemical‐genetic version of the mutant screen, in which we performed a high‐throughput phenotypic screen of a large compound library and identified novel small‐molecule secretory inhibitors. To maximize the number and diversity of our hits, the screen was performed in a pdr5Δ snq2Δ mutant background, which lacks two transporters responsible for pleiotropic drug resistance. However, we found that deletion of both transporters reduced the fitness of our screen strain, whereas the pdr5Δ mutation had a relatively small effect on growth and was also the more important transporter mutation for conferring sensitivity to our hits. In this and similar chemical‐genetic yeast screens, using just a single pump mutation might be sufficient for increasing hit diversity while minimizing the physiological effects of transporter mutations.
Concurrent radiotherapy and temozolomide followed by temozolomide and sorafenib in the first‐line treatment of patients with glioblastoma multiforme
Authors: Hainsworth John D. , Ervin Thomas , Friedman Elke , Priego Victor , Murphy Patrick B. , Clark Bobby L. , Lamar Ruth E. 
Published: May 2010

AbstractBACKGROUND:The current study was conducted to evaluate the efficacy of sorafenib, an oral vascular endothelial growth factor receptor tyrosine kinase inhibitor, when added to standard radiotherapy and temozolomide in the first‐line treatment of patients with glioblastoma multiforme.METHODS:After initial surgical resection or biopsy, patients with newly diagnosed glioblastoma multiforme received concurrent radiotherapy (2.0 grays [Gy]/day; total dose, 60 Gy) and temozolomide (at a dose of 75 mg/m2 orally daily), followed by 6 months of maintenance therapy with temozolomide (at a dose of 150 mg/m2 orally on Days 1‐5 every 28 days) and sorafenib (at a dose of 400 mg orally twice daily). Patients were re‐evaluated every 2 months; the primary endpoint of the trial was progression‐free survival (PFS).RESULTS:A total of 47 patients were treated; 34 had undergone previous debulking surgery. Nineteen patients withdrew from treatment before the initiation of maintenance therapy with temozolomide and sorafenib (12 because of early tumor progression). Twenty‐eight patients (60% of enrolled patients) received 4 months of maintenance therapy with temozolomide and sorafenib, and 9 patients (19%) completed the planned 6 months of maintenance therapy. The median PFS for the entire group was 6 months (95% confidence interval [95% CI], 3.7‐7 months), with a 1‐year PFS rate of 16%. The median overall survival was 12 months (95%CI, 7.2‐16 months). Maintenance therapy with temozolomide and sorafenib was found to be well tolerated by most patients, with no grade 3/4 toxicity (according to the National Cancer Institute Common Toxicity Criteria [version 3.0]) reported to occur in >10% of patients.CONCLUSIONS:The addition of sorafenib did not appear to improve the efficacy of treatment when compared with the results expected with standard therapy. A substantial percentage of patients (40%) did not receive any maintenance sorafenib, most often because of early disease progression. The administration of angiogenesis inhibitors concurrently with radiotherapy and temozolomide may optimize the opportunity to improve therapy. Cancer 2010. © 2010 American Cancer Society.
Generalized Self‐Similarity of Edge Plasma Turbulence in Fusion Devices
Authors: Budaev V.P. 
Published: May 2010

AbstractRecent results of the edge plasma turbulence in fusion devices are reviewed. The intermittent turbulent fluctuations demonstrate a multifractal statistics. The generalized scale invariance has been observed by involving the Extended Self‐Similarity hypothesis. Turbulence scalings are compared with predictions of intermittent turbulence models (© 2010 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Nonlinear Dynamics in the Tokamak Edge
Authors: Scott B.D. , Kendl A. , Ribeiro T. 
Published: May 2010

AbstractThe nonlinear character of the tokamak edge results from a unique combination of parameters, leading to a wide dynamical range for most processes. The energetically consistent gyrokinetic equilibrium is emphasised. Edge turbulence computed gyrokinetically exhibits energetic contact to mesoscale MHD and does not follow linear scaling. Gyrofluid studies show self consistent profiles, currents and flows which are kicked out of equilibrium to varying degree. L‐mode turbulence and ELM crash phenomenology are both examples of energetic contact between turbulence and MHD, with opposite causality. The overall equilibrium is a statistical saturation rather than a state to which the plasma dissipatively converges (© 2010 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Synthetic Doppler Reflectometer Diagnostic for Nonlinear Global Gyrokinetic Simulations
Authors: Leerink S. , Bulanin V. V. , Gusakov E. Z. , Heikkinen J.A. , Janhunen S. J. , Kiviniemi T. P. , Korpilo T. , Nora M. , Ogando F. 
Published: May 2010

AbstractTurbulence spectra of density fluctuations measured with Doppler Reflectometry at the FT‐2 tokamak are com‐pared to full f nonlinear gyrokinetic simulations by means of a synthetic Doppler reflectometry diagnostic. The experimental and synthetic power spectrum of the Doppler reflectometer show good agreements in both the Doppler shift as well as the width of the power spectrum, indicating comparable rotation and spreading of the turbulence. The averaged radial electric field is shown to closely folllow the neoclasical Hazeltine Hinton value and Geodesic Acoustic mode are clearly identified by the width of the spectra (© 2010 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Modelling of Carbon Transport in the Outer Divertor Plasma of ASDEX Upgrade
Authors: Aho‐Mantila L. , Wischmeier M. , Airila M.I. , Chankin A.V. , Coster D.P. , Fuchs Ch. , Groth M. , Kirschner A. , Krieger K. , Müller H.W. , Wolfrum E. , Nachname Vorname , Nachname Vorname , the ASDEX Upgrade Team  
Published: May 2010

AbstractCarbon transport in the ASDEX Upgrade outer divertor plasma is investigated in numerical simulations. The SOLPS5.0 code package is used to model the scrape‐off layer plasma in a set of repeated lower‐single‐null L‐mode discharges. Special emphasis is given to replicate the plasma conditions measured in the full tungsten, vertical outer target of ASDEX Upgrade, and solutions with and without the effect of drifts are presented. First ERO simulations of hydrocarbon transport in a SOLPS plasma background including drifts are carried out, and significantly closer match to the experimental 13C deposition pattern is obtained than with the solution without drifts. The 2D divertor electric field predicted by SOLPS is applied to the ERO modelling, and it is observed to result in a poloidal hydrocarbon drift that agrees well with the experiment. An increased carbon deposition efficiency, particularly upstream from the source, is obtained in the normal ASDEX Upgrade field configuration (© 2010 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Climate changes' effects on vegetation water stress in Mediterranean areas
Authors: Pumo D. , Viola F. , Noto L.V. 
Published: May 2010

AbstractMany recent studies have demonstrated that CO2 increase is driving the climate in Mediterranean areas towards important changes, mainly represented by a temperature increase and a contemporaneous rainfall reduction. Starting from this premise, the primary aim of the present study is to investigate the effects of potential climatic changes on vegetational stress in Mediterranean ecosystems. Particular attention is here focussed only on the plants' water stress in water controlled ecosystems, mainly related to soil water balance. The interactions among climate, soil and vegetation are evaluated numerically by means of an ecohydrological model. In this work, different future climatic scenarios and their effects on woody and grassy vegetation are analysed, and the results show an increase in water stress for woody and grass vegetations: trees could suffer more because of the higher evapotranspiration rates and the decrease of the winter recharge. Results are strictly dependent on the future rainfall seasonal distribution and the possible modification in rainfall frequency and intensity. Copyright © 2010 John Wiley & Sons, Ltd.
γ‐Deprotonation of Bridging Vinyliminium Ligands: New Route to Aminobutadienylidene Diiron and Diruthenium Complexes
Authors: Busetto Luigi , Marchetti Fabio , Salmi Mauro , Zacchini Stefano , Zanotti Valerio 
Published: May 2010

AbstractThe SPh‐functionalized vinyliminium complexes [M2{μ‐η1:η3‐C(R′)=C(SPh)C=N(Me)(R)}(μ‐CO)(CO)(Cp)2][SO3CF3][M = Fe, R = Xyl, R′ = Me, 2a; M = Fe, R = Me, R′ = Me, 2b; M = Fe, R = 4‐C6H4OMe, R′ = Me, 2c; M = Ru, R = Xyl, R′ = Me, 2d; M = Fe, R = Xyl, R′ = CH2OH, 2e; M = Fe, R = Me, R′ = CH2OH, 2f; Xyl = 2,6‐Me2C6H3] react upon treatment with NaH in thf solution. Species 2a and 2c afford thedinuclear butadienylidene complexes [Fe2{μ‐η1:η3‐CN(R)(Me)=C(SPh)C=CH2}(μ‐CO)(CO)(Cp)2] (R = Xyl, 4; R = 4‐C6H4OMe, 8), respectively. The transformation of 2c into 8 is selective, whereas 2a produces 4 together with the metallacycle [Fe(CO)(Cp){CN(Xyl)(Me)C(SPh)C(Me)C(O)}] (3). A very similar metallacycle [Fe(CO)(Cp){CN(Me)2C(SPh)C(Me)C(O)}] (7) is obtained, as a single product, from 2b. Diruthenium complex 2d, upon treatment with NaH, affords the dinuclear butadienylidene complex [Ru2{μ‐η2:η3‐CN(Me)(Xyl)=C(SPh)C=CH2}(CO)2(Cp)2] (9), which is very similar to diiron species 4 and 8, but it exhibits a different bridging coordination mode, as evidenced by X‐ray diffraction. Complexes 2d and 2f upon treatment with NaH undergo deprotonation of the OH group, which consequently gives rise to an intramolecular nucleophilic addition to the CO group to yield the complexes [Fe2{μ‐η1:η3‐C{CH2OC(O)}=C(SPh)C=N(Me)(R)}(μ‐CO)(Cp)2] (R = Xyl, 10a; R = Me, 10b). This transformation is reversed upon treatment with HSO3CF3. The molecular structures of 8, 9, and 10a·0.33CH2Cl2·were determined by X ray diffraction studies.
Tandem Photoarylation–Photoisomerization of Halothiazoles: Synthesis, Photophysical and Singlet Oxygen Activation Properties of Ethyl 2‐Arylthiazole‐5‐carboxylates
Authors: Amati Mario , Belviso Sandra , D'Auria Maurizio , Lelj Francesco , Racioppi Rocco , Viggiani Licia 
Published: May 2010

AbstractThe photochemical reaction between ethyl 2‐chlorothiazole‐5‐carboxylate and benzene gave no product. In contrast, the reaction with ethyl 2‐iodothiazole‐5‐carboxylate gave ethyl 3‐phenylisothiazole‐4‐carboxylate. The same behaviour was observed if the reaction was performed in the presence of furan, thiophene and 2‐bromothiophene. The products thus obtained were studied for their photophysical properties and it was found that the observed absorptions [λmax=257 nm (ϵ = 7000 M–1 cm–1) for ethyl 3‐phenylisothiazole‐4‐carboxylate, 278 nm (ϵ = 7000 M–1 cm–1) for ethyl 3‐(2‐furyl)isothiazole‐4‐carboxylate, 269 and 285 nm (ϵ = 7500 M–1 cm–1) for ethyl 3‐(2‐thienyl)isothiazole‐4‐carboxylate] are mainly due to π → π* transitions from the HOMO to the LUMO+1 orbital. The tested compounds showed fluorescence [λem = 350–400 (λexc = 300 nm), 360 and 410 nm (λexc = 320 nm), 412 nm (λexc = 340 nm) for ethyl 3‐phenylisothiazole‐4‐carboxylate, 397 and 460 nm (λexc = 300 nm), 381, 394 and 460 nm (λexc = 320 nm), 381, 398 and 466 nm (λexc = 340 nm) for ethyl 3‐(2‐furyl)isothiazole‐4‐carboxylate, 372, 377 and 414 nm (λexc = 300, 320 and 340 nm respectively) for ethyl 3‐(2‐thienyl)isothiazole‐4‐carboxylate], possibly due to dual emission from different excited states. The use of the compound obtained as a sensitizer in the photo‐oxidation of trans‐α,α′‐dimethylstilbene showed that all the new compounds are singlet‐oxygen sensitizers.
Diastereoselective Access to Enantiomerically Pure cis‐2,3‐Disubstituted Pyrrolidines
Authors: Delaye Pierre‐Olivier , Pradhan Tarun K. , Lambert Émilie , Vasse Jean‐Luc , Szymoniak Jan 
Published: May 2010

AbstractA straightforward access to enantiomerically pure 2,3‐disubstituted pyrrolidines is reported that involves diastereoselective allylation of (R)‐phenylglycinol‐derived imines and a sequential hydrozirconation–cyclization. A number of pyrrolidine derivatives bearing aryl, heteroaryl, alkyl and alkenyl groups have been prepared in this way. Such compounds are useful building blocks in the synthesis of molecules of biological interest, as illustrated by the syntheses of proline derivatives and the naturally occurring alkaloid (–)‐isoretronecanol.
General Approach to 2,3‐Dibenzyl‐γ‐butyrolactone Lignans: Application to the Total Synthesis of (±)‐5′‐Methoxyyatein, (±)‐5′‐Methoxyclusin, and (±)‐4′‐Hydroxycubebinone
Authors: Amancha Prashanth K. , Liu Hsing‐Jang , Ly Tai Wei , Shia Kak‐Shan 
Published: May 2010

AbstractThe total synthesis of natural lignans 5′‐methoxyyatein (1), 5′‐methoxyclusin (2), and 4′‐hydroxycubebinone (3), in racemic form, has been achieved by a newly developed strategy, wherein lithium naphthalenide induced decyanation was employed as a key operation to establish the essential trans configuration of the butyrolactone ring.