bluuebunny/crossref_metadata_2025_split huggingface dataset:
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration
Authors: Plaja Alberto , Lloveras Elisabet , Martinez‐Bouzas Cristina , Barreña Beatriz , Campo Miguel Del , Fernández Asunción , Herrero Marta , Barranco Laura , Palau Nuria , López‐Aríztegui M. Asunción , Català Vicenç , Tejada Maria‐Isabel 
Published: July 2013

AbstractWe present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality. © 2013 Wiley Periodicals, Inc.
Endocrine abnormalities in townes–brocks syndrome
Authors: Lawrence Cara , Hong‐McAtee Irene , Hall Bryan , Hartsfield James , Rutherford Andrew , Bonilla Tracy , Bay Carolyn 
Published: July 2013

AbstractTownes–Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes–Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to our knowledge [Kohlhase et al., 1999; Botzenhart et al., 2005; Choi et al., 2010]. We report on two unrelated patients with Townes–Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities. Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four. We suspect endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes–Brocks syndrome. © 2013 Wiley Periodicals, Inc.
Transfer printing of transfected cell microarrays from poly(ethylene glycol)‐oleyl surfaces onto biological hydrogels
Authors: Yamaguchi Satoshi , Komiya Senori , Matsunuma Erika , Yamahira Shinya , Kihara Takanori , Miyake Jun , Nagamune Teruyuki 
Published: July 2013

ABSTRACTWe have developed a novel technique for constructing microarrays of transfected mammalian cells on or in extracellular matrix (ECM) hydrogels by transfer printing from patterned poly(ethylene glycol) (PEG)‐oleyl surfaces. A mixed solution of small interfering RNA (siRNA) and a transfection reagent was spotted on PEG‐oleyl‐coated glass slides using an ink‐jet printer, and the cells were then transiently immobilized on the patterned transfection mixtures. After overlaying an ECM hydrogel sheet onto the immobilized cells, the cells sandwiched between the glass slide and the hydrogel sheet were incubated at 37°C for simultaneous transfection of siRNA into cells and adhesion of cells to the hydrogel sheet. Transfer of the adhered, transfected cells was completed by peeling off the hydrogel sheet. The knockdown of a model gene in the transferred cell microarray by the transfected siRNA was successfully confirmed. Transfected cell microarrays were also embedded within three‐dimensional ECM hydrogels. In the three‐dimensional hydrogel, the inhibition effect of siRNA on cancer cell invasion was evaluated by quantifying the size of cell clusters on the microarrays. These results indicate that transfection of cell microarrays on or in a biological matrix is a promising technique for high‐throughput screening of disease‐related genes by direct observation of cellular phenomena in a physiologically relevant environment. Biotechnol. Bioeng. 2013;110: 3269–3274. © 2013 Wiley Periodicals, Inc.
ChemInform Abstract: Asymmetric Henry Reactions of Aldehydes Using Chiral Biaryl‐Based Bis(thiourea) Organocatalysts.
Authors: Nakayama Yuki , Hidaka Yusaku , Ito Katsuji 
Published: July 2013

AbstractThe conditions are optimized using the newly designed BTU catalyst for aliphatic and aromatic aldehydes.
Efferent connections of the parvalbumin‐positive (PV1) nucleus in the lateral hypothalamus of rodents
Authors: Celio Marco R. , Babalian Alexandre , Ha Quan Hue , Eichenberger Simone , Clément Laurence , Marti Christiane , Saper Clifford B. 
Published: July 2013

ABSTRACTA solitary cluster of parvalbumin‐positive neurons – the PV1 nucleus – has been observed in the lateral hypothalamus of rodents. In the present study, we mapped the efferent connections of the PV1 nucleus using nonspecific antero‐ and retrograde tracers in rats, and chemoselective, Cre‐dependent viral constructs in parvalbumin‐Cre mice. In both species, the PV1 nucleus was found to project mainly to the periaqueductal grey matter (PAG), predominantly ipsilaterally. Indirectly in rats and directly in mice, a discrete, longitudinally oriented cylindrical column of terminal fields (PV1‐CTF) was identified ventrolateral to the aqueduct on the edge of the PAG. The PV1‐CTF is particularly dense in the rostral portion, which is located in the supraoculomotor nucleus (Su3). It is spatially interrupted over a short stretch at the level of the trochlear nucleus and abuts caudally on a second parvalbumin‐positive (PV2) nucleus. The rostral and the caudal portions of the PV1‐CTF consist of axonal endings, which stem from neurons scattered throughout the PV1 nucleus. Topographically, the longitudinal orientation of the PV1‐CTF accords with that of the likewise longitudinally oriented functional modules of the PAG, but overlaps none of them. Minor terminal fields were identified in a crescentic column of the lateral PAG, as well as in the Edinger–Westphal, the lateral habenular, and the laterodorsal tegmental nuclei. So far, no obvious functions have been attributed to this small, circumscribed column ventrolateral to the aqueduct, the prime target of the PV1 nucleus.J. Comp. Neurol. 521:3133–3153, 2013. © 2013 Wiley Periodicals, Inc.
Singlet and Triplet Excited‐State Dynamics Study of the Keto and Enol Tautomers of Cytosine
Authors: Mai Sebastian , Marquetand Philipp , Richter Martin , González‐Vázquez Jesús , González Leticia 
Published: July 2013

AbstractThe photoinduced excited‐state dynamics of the keto and enol forms of cytosine have been investigated by using ab initio surface‐hopping to gain an understanding of the outcome of molecular beam femtosecond pump‐probe photoionisation spectroscopy experiments. Both singlet and triplet states were included in the dynamics. The results show that triplet states play a significant role in the relaxation of the keto tautomer, whereas they are less important in the enol tautomer. In both forms, the T1 state minimum was found to be too low in energy to be detected in standard photoionisation spectroscopy experiments and therefore experimental decay times should arise from simultaneous relaxation to the ground state and additional intersystem crossing followed by internal conversion to the T1 state. In agreement with available experimental lifetimes, we observed three decay constants of 7, 270 and 1900 fs, the first two coming from the keto tautomer and the third from the enol form. Deactivation of the enol tautomer is due to internal conversion to the ground state through two ethylenic‐type S1/S0 conical intersections.
A 1–6 GHz analog radio frequency power driver in 90 nm complementary metal‐oxide semiconductor technology for wireless applications
Authors: Ren Saiyu , Abraham Isaac , Hong Seng 
Published: July 2013

SummaryOne of the most challenging subsystems for integrated radio frequency (RF) complementary metal‐oxide semiconductor (CMOS) solutions is the power amplifier. A 1–6 GHz RF power driver (RFPD) in 90 nm CMOS technology is presented, which receives signals from on‐chip RF signal chain components at −12 dBm power levels and produces a 0 dBm signal to on‐chip or off‐chip 50 Ω loads. A unique unit cell design is developed for the RFPD to offset issues associated with very wide multi‐fingered transistors. The RF driver was fabricated as a stand‐alone sub‐circuit on a 90 nm CMOS die with other sub‐circuits. Experimental tests confirmed that the on‐chip RFPD operates up to 6 GHz and is able to drive 50 Ω loads to the desired 0 dBm power level. Spur free dynamic range exceeded 70 dB. The measured power gain was 11.6 dB at 3 GHz. The measured 1 dB compression point and input third‐order intercept point (IIP3) were −4.7 dBm and −0.5 dBm, respectively. Also, included are modeling, simulation, and measured results addressing issues associated with interfacing the die to a package with pinouts and the package to a printed circuit test fixture. The simulations were made through direct current (DC), alternating current (AC), and transient analysis with Cadence Analog Design Environment. The stability was also verified on the basis of phase margin simulations from extracted circuit net‐lists. Copyright © 2013 John Wiley & Sons, Ltd.
Zonisamide in the treatment of bulimia nervosa: An open‐label, pilot, prospective study
Authors: Guerdjikova Anna I. , Blom Thomas J. , Martens Brian E. , Keck Paul E. , McElroy Susan L. 
Published: July 2013

ABSTRACTObjectiveTo assess preliminarily the effectiveness of zonisamide in bulimia nervosa.MethodThis was an open‐label, prospective, 12‐week, flexible dose study of zonisamide in bulimia nervosa. The primary outcome was binge‐purge episode frequency.ResultsTwelve individuals received zonisamide, 10 completed at least one post‐baseline evaluation, and six completed the study. Mean dose at endpoint was 420 (SD = 215) mg/day. Zonisamide was associated with significant reductions in frequency of binge‐purge episodes and binge‐purge days as well as measures of binge eating behavior, purging behavior, clinical severity, obsessive‐compulsive features, and depressive symptoms. Weight was unchanged.DiscussionIn this open‐label trial, zonisamide was effective in bulimia nervosa, but associated with a high discontinuation rate. © 2013 Wiley Periodicals, Inc. (Int J Eat Disord 2013; 46:747–750)
The influence of landscape matrix on isolated patch use by wide‐ranging animals: conservation lessons for woodland caribou
Authors: Lesmerises Rémi , Ouellet Jean‐Pierre , Dussault Claude , St‐Laurent Martin‐Hugues 
Published: July 2013

AbstractFor conservation purposes, it is important to design studies that explicitly quantify responses of focal species to different land management scenarios. Here, we propose an approach that combines the influence of landscape matrices with the intrinsic attributes of remaining habitat patches on the space use behavior of woodland caribou (Rangifer tarandus caribou), a threatened subspecies of Rangifer. We sought to link characteristics of forest remnants and their surrounding environment to caribou use (i.e., occurrence and intensity). We tracked 51 females using GPS telemetry north of the Saguenay River (Québec, Canada) between 2004 and 2010 and documented their use of mature forest remnants ranging between 30 and ~170 000 ha in a highly managed landscape. Habitat proportion and anthropogenic feature density within incremental buffer zones (from 100 to 7500 m), together with intrinsic residual forest patch characteristics, were linked to caribou GPS location occurrence and density to establish the range of influence of the surrounding matrix. We found that patch size and composition influence caribou occurrence and intensity of use within a patch. Patch size had to reach approximately 270 km2 to attain 75% probability of use by caribou. We found that small patches (<100 km2) induced concentration of caribou activities that were shown to make them more vulnerable to predation and to act as ecological traps. Woodland caribou clearly need large residual forest patches, embedded in a relatively undisturbed matrix, to achieve low densities as an antipredator strategy. Our patch‐based methodological approach, using GPS telemetry data, offers a new perspective of space use behavior of wide‐ranging species inhabiting fragmented landscapes and allows us to highlight the impacts of large scale management. Furthermore, our study provides insights that might have important implications for effective caribou conservation and forest management.
Regioselective Glycosylation of Unprotected Phenyl 1‐Thioglycopyranosides with Phenylboronic Acid as a Transient Masking Group
Authors: Fenger Thomas Hauch , Madsen Robert 
Published: July 2013

AbstractA useful protocol is described for the regioselective glycosylation of the secondary alcohols in unprotected glycosyl acceptors. Phenyl 1‐thioglycopyranosides derived from D‐glucose, D‐galactose, D‐glucosamine, L‐rhamnose, and L‐fucose were treated with phenylboronic acid to install a temporary boronic ester, and then submitted to a Koenigs–Knorr glycosylation with perbenzoylated glucopyranosyl or galactopyranosyl bromides. Good yields for coupling to the 3‐position in glucosides and galactosides were achieved, but lower yields were obtained with the other acceptors. With phenyl 1‐thio‐β‐D‐glucopyranoside, the coupling could also be achieved with a superarmed thiogalactoside donor. The product from a glucose–glucose coupling could be subjected to a second regioselective glycosylation at the 6‐position. In the galactose series, a β(1→3)‐linked galactotriose could be prepared in good yield by two consecutive glycosylations in one pot, where a free 2‐hydroxy group ensures neighboring group participation in the second coupling.
Sensory profile of pink port wines: Development of a flavour lexicon
Authors: Monteiro Bebiana , Vilela Alice , Correia Elisete 
Published: July 2013

ABSTRACTPort wine is a Portuguese fortified wine produced exclusively in the Douro Valley. Under the guidelines of the European Union Protected Designation of Origin, only products from Portugal may be labelled as Port or Porto. Pink port was first released in 2008, so it is a very recent variation in the market. Sensory evaluation has been widely applied in different fields in the wine industry, especially for testing quality, for product design and marketing. Herein, we evaluated the applicability of sensory techniques in the pink port wine industry, in order to assist winery operations in characterizing pink port wine sensory properties. To achieve these goals, our study was divided into several steps: the selection and training of panellists by using triangle and ranking tests, the identification and selection of descriptors and, finally, establishing a sensory profile with non‐parametric multivariate analytical techniques such as categorical principal components analysis and multivariate analysis of variance, of several pink port brands. From the brands studied we conclude that three of them are very similar in terms of attributes, while the other two have different organoleptic characteristics. Copyright © 2013 John Wiley & Sons, Ltd.
Natural Gas Liquids: Price Regulation Allowing NGL Pipelines to Adjust to Current Conditions
Authors: Webb Michael J. , Williams Julia C. 
Published: July 2013

AbstractProduction of natural gas liquids (NGLs) has become an integral part of the North American energy renaissance. Indeed, as natural gas prices and oil prices have decoupled, higher oil prices have created incentives to develop natural gas plays containing greater liquids. Consequently, the ability to economically transport NGLs from production areas to major trading has become an important issue. Consequently, understanding pipeline regulation plays an important role in overall economics.
Water column denitrification rates in the oxygen minimum layer of the Pacific Ocean along 32°S
Authors: Kim Il‐Nam , Min Dong‐Ha , Macdonald Alison M. 
Published: July 2013

AbstractTo date, estimates of water column denitrification rates in global‐ and basin‐scale nitrogen budgets do not include any values obtained in the open ocean outside the oxygen minimum zones (OMZs). The high‐quality, 32°S Pacific repeat hydrographic surveys conducted in 1992, 2003, and 2010 offer an opportunity to estimate denitrification rates on basin scales in the open ocean away from the Eastern Tropical Pacific (ETP) oxygen minimum zones. Here, extended optimum multiparameter analysis and N* are used to estimate water column denitrification (ΔNdeni) in the oxygen minimum layer (OML; 1100–2000 dbar). Water column denitrification rates for 2003 and 2010 are estimated from the regression analysis using ΔNdeni and transit time distribution ages based on CFC12. Estimated mean denitrification rates in the OML at 32°S range from 3.1 to 7.5 µmol N m−3 yr−1 (=2.6–6.8 mmol N m−2 yr−1 with a thickness of 900 m). The OML denitrification rates are 2–3 orders of magnitudes lower than those estimated in the OMZs of ETP. However, their significance to Pacific nitrogen budget needs to be investigated in the future. Although uncertainties remain, our results may ultimately contribute to an improved understanding of marine nitrogen cycles.
Interannual variations in degree‐2 Earth's gravity coefficients C2,0, C2,2, and S2,2 reveal large‐scale mass transfers of climatic origin
Authors: Meyssignac B. , Lemoine J. M. , Cheng M. , Cazenave A. , Gégout P. , Maisongrande P. 
Published: July 2013

AbstractSeveral recent studies have shown evidences for large water transfers in the climate system at interannual to decadal time scales, in particular during El Niño‐Southern Oscillation events. In this study, we investigate further these water transfers and their signature in the gravity field. We analyze variations of the low‐degree spherical harmonics C2,0 (Earth's oblateness), C2,2, and S2,2 (eccentricity at the Earth's equator) from satellite laser ranging data during the 19 year period 1993–2012. We also estimate the water mass transfers in the climate system using satellite altimetry corrected for the steric effect, atmospheric reanalysis, and land hydrology models. We find a large signal in the water mass redistribution during the 1997/1998 El Niño which is consistent with an increase of the ocean mass in the tropical Pacific, a decrease of water storage in the Amazon Basin, and an increase of water storage in the Congo Basin.
Persistent human herpesvirus‐6 infection in patients with an inherited form of the virus
Authors: Pantry Shara N. , Medveczky Maria M. , Arbuckle Jesse H. , Luka Janos , Montoya Jose G. , Hu Jianhong , Renne Rolf , Peterson Daniel , Pritchett Joshua C. , Ablashi Dharam V. , Medveczky Peter G. 
Published: July 2013

AbstractHuman herpesvirus‐6 (HHV‐6)A and 6B are ubiquitous betaherpesviruses viruses with lymphotropic and neurotropic potential. As reported earlier, these viruses establish latency by integration into the telomeres of host chromosomes. Chromosomally integrated HHV‐6 (CIHHV‐6) can be transmitted vertically from parent to child. Some CIHHV‐6 patients are suffering from neurological symptoms, while others remain asymptomatic. Four patients with CIHHV‐6 and CNS dysfunction were treated with valganciclovir or foscarnet. HHV‐6 replication was detected by reverse transcriptase polymerase chain reaction amplification of a late envelope glycoprotein. In this study we also compared the inherited and persistent HHV‐6 viruses by DNA sequencing. The prevalence of CIHHV‐6 in this cohort of adult patients from the USA suffering from a wide range of neurological symptoms including long‐term fatigue were found significantly greater than the reported 0.8% in the general population. Long‐term antiviral therapy inhibited HHV‐6 replication as documented by loss of viral mRNA production. Sequence comparison of the mRNA and the inherited viral genome revealed that the transcript is produced by an exogenous virus. In conclusion, the data presented here document that some individuals with CIHHV‐6 are infected persistently with exogenous HHV‐6 strains that lead to a wide range of neurological symptoms; the proposed name for this condition is inherited herpesvirus 6 syndrome or IHS. J Med. Virol. 85:1940–1946, 2013. © 2013 Wiley Periodicals, Inc.
Posttraumatic Stress Disorder Is Associated With Emotional Eating
Authors: Talbot Lisa S. , Maguen Shira , Epel Elissa S. , Metzler Thomas J. , Neylan Thomas C. 
Published: July 2013

The present study investigated the relationship between posttraumatic stress disorder (PTSD) and emotional eating in a sample of medically healthy and medication‐free adults. Participants with PTSD (n = 44) and control participants free of lifetime psychiatric history (n = 49) completed a measure of emotional eating. Emotional eating is the tendency to eat or overeat in response to negative emotions. PTSD participants exhibited greater emotional eating than control participants (η2 = .20) and emotional eating increased with higher PTSD symptom severity (R2 = .11). Results supported the stress‐eating‐obesity model whereby emotional eating is a maladaptive response to stressors. Over time, this could lead to weight gain, particularly abdominal stores, and contribute to higher risk for comorbid medical disorders. Findings suggest the importance of future longitudinal research to understand whether emotional eating contributes to the high rates of obesity, diabetes, and heart disease in PTSD.
Self‐Assembly of Globular‐Protein‐Containing Block Copolymers
Authors: Olsen Bradley D. 
Published: July 2013

AbstractSelf‐assembly has emerged as a powerful approach to control nanostructure in materials containing globular proteins, both through templated self‐assembly and direct self‐assembly of globular protein‐polymer conjugates or fusion proteins. The folded structures of globular proteins that are critical to their function introduce complex shapes and interactions into block copolymers that significantly alter the physics of self‐assembly. This article discusses the different methods for controlling the nanostructure of globular proteins using block copolymers, highlighting efforts at understanding the physics of self‐assembly in concentrated solution and solid‐state bioconjugate copolymers.magnified image
Fetal and neonatal atrial arrhythmias: an association with maternal diabetes and neonatal macrosomia
Authors: Pike J. I. , Krishnan A. , Kaltman J. , Donofrio M. T. 
Published: July 2013

ABSTRACTObjectiveTo determine if the incidence of maternal diabetes mellitus or neonatal macrosomia is more frequent in fetuses and neonates with atrial arrhythmias than the general population.MethodsFetuses and neonates <30 days of age with atrial flutter or ectopic atrial tachycardia and structurally normal hearts were identified retrospectively through the cardiology databases. Electrocardiograms, echocardiograms, and medical records of mothers and infants were reviewed.ResultsThirty‐one patients (15 fetuses, 12 diagnosed in‐utero) were identified. Infants with atrial flutter or ectopic atrial tachycardia were more likely to be macrosomic or to be born to diabetic mothers than the general population. Two had left atrial dimension z‐scores above +2, and two had interventricular thickness z‐scores above +2. Eighteen of 19 had abnormal mitral E/A ratios, suggesting left ventricular diastolic dysfunction.ConclusionsFetuses and neonates with atrial flutter or ectopic atrial tachycardia were more likely to be macrosomic or be born to diabetic mothers than the general population. Postnatal echocardiography suggests that there may be abnormal diastolic left ventricular filling in some babies with these arrhythmias. Independent of ventricular hypertrophy, we speculate that isolated, non‐recurrent fetal or neonatal atrial flutter, or ectopic atrial tachycardia may be caused by cardiac diastolic dysfunction and atrial stretch in utero. © 2013 John Wiley & Sons, Ltd.