bluuebunny/crossref_metadata_2025_split huggingface dataset:
Frequency of work‐related respiratory symptoms in workers without asthma
Authors: Chiry Samah , Boulet Louis‐Philippe , Lepage Johanne , Forget Amélie , Bégin Denis , Chaboillez Simone , Malo Jean‐Luc , Gérin Michel , Lemiere Catherine 
Published: March 2009

AbstractBackgroundClinicians are faced with subjects complaining of work‐related respiratory symptoms (WRS) without any evidence of asthma. We sought to assess the prevalence of subjects with WRS without asthma in a cohort of workers referred for possible work‐related asthma (WRA) as well as compare the characteristics and the work environment of subjects with WRS to subjects with WRA.MethodsA prospective observational study of workers referred for possible WRA over a 1‐year period. Detailed medical and occupational questionnaires were administered. Pulmonary function tests as well as specific‐inhalation challenges were performed.ResultsOne hundred twenty workers were investigated. Fifty‐one had WRA while 69 had WRS. The type and the severity of the respiratory symptoms were similar in both groups, except for wheezing which was more frequently reported in subjects with WRA (32 (62.7%)) than in subjects with WRS (16 (23.2%)) (P < 0.01). Both the workers with WRS and WRA were mainly employed in the manufacturing sector (64.7% (WRA) and 71% (WRS)). At the time of the first assessment 64.7% of subjects with WRA and 56.5% with WRS had left their workplace because of their bothersome respiratory symptoms.ConclusionsSubjects with WRS without asthma represent a large proportion of the subjects assessed in clinics specialized in the field of WRA. Like subjects with WRA, the population with WRS is likely to represent a significant medical burden. The similarity of the symptoms between the WRA and the WRS groups emphasizes the need to perform a thorough and objective investigation to diagnose WRA. Am. J. Ind. Med. 52:447–454, 2009. © 2009 Wiley‐Liss, Inc.
Linkage disequilibrium mapping of the chromosome 6q21–22.31 bipolar I disorder susceptibility locus
Authors: Fan Jinbo , Ionita‐Laza Iuliana , McQueen Matthew B. , Devlin Bernie , Purcell Shaun , Faraone Stephen V. , Allen Michael H. , Bowden Charles L. , Calabrese Joseph R. , Fossey Mark D. , Friedman Edward S. , Gyulai Laszlo , Hauser Peter , Ketter Terence B. , Marangell Lauren B. , Miklowitz David J. , Nierenberg Andrew A. , Patel Jayendra K. , Sachs Gary S. , Thase Michael E. , Molay Francine B. , Escamilla Michael A. , Nimgaonkar Vishwajit L. , Sklar Pamela , Laird Nan M. , Smoller Jordan W. 
Published: March 2009

AbstractWe previously reported genome‐wide significant evidence for linkage between chromosome 6q and bipolar I disorder (BPI) by performing a meta‐analysis of original genotype data from 11 genome scan linkage studies. We now present follow‐up linkage disequilibrium mapping of the linked region utilizing 3,047 single nucleotide polymorphism (SNP) markers in a case–control sample (N = 530 cases, 534 controls) and family‐based sample (N = 256 nuclear families, 1,301 individuals). The strongest single SNP result (rs6938431, P = 6.72 × 10−5) was observed in the case–control sample, near the solute carrier family 22, member 16 gene (SLC22A16). In a replication study, we genotyped 151 SNPs in an independent sample (N = 622 cases, 1,181 controls) and observed further evidence of association between variants at SLC22A16 and BPI. Although consistent evidence of association with any single variant was not seen across samples, SNP‐wise and gene‐based test results in the three samples provided convergent evidence for association with SLC22A16, a carnitine transporter, implicating this gene as a novel candidate for BPI risk. Further studies in larger samples are warranted to clarify which, if any, genes in the 6q region confer risk for bipolar disorder. © 2009 Wiley‐Liss, Inc.
Genetic polymorphisms in the DRD2, DRD3, and SLC6A3 gene in elderly patients with delirium
Authors: van Munster Barbara C. , Yazdanpanah Mojgan , Tanck Michael W.T. , de Rooij Sophia E.J.A. , van de Giessen Elsmarieke , Sijbrands Eric J.G. , Zwinderman Aeilko H. , Korevaar Johanna C. 
Published: March 2009

AbstractDopamine excess appears to be critical in the final common pathway of delirium. The aim of this study was to investigate whether genetic polymorphisms in three dopamine‐related genes (the dopamine receptor 2 (DRD2), dopamine receptor 3 (DRD3), and the dopamine transporter (SLC6A3) gene) were associated with delirium. Patients aged 65 years and older acutely admitted to the medical department or to the surgical department following hip fracture were included. Delirium was diagnosed by the Confusion Assessment Method. Sixteen single nucleotide polymorphisms (SNPs) and one variable number of tandem repeats in the SLC6A3 gene, nine SNPs in the DRD2 gene, and six SNPs in the DRD3 gene were genotyped. Fifty percent of the 115 surgical patients and 34% of the 605 medical patients experienced delirium. Delirious patients were older and had more frequently pre‐existing functional and cognitive impairment (P < 0.001). After correction for multiple testing, one SNP in the SLC6A3 gene (rs393795) was associated with reduced risk of delirium (P = 0.032). Adjusted for age, cognitive impairment, and functional impairment, three SNPs in the DRD2 gene and seven SNPs in the SLC6A3 gene were associated with delirium; none of these associations was significant after correction for multiple testing. Variations in the SLC6A3 gene and possibly the DRD2 gene were associated with delirium. Although validation of these results is needed our results support a role for the dopamine transporter and dopamine receptor 2 in the pathogenesis of delirium. © 2009 Wiley‐Liss, Inc.
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability
Authors: Falik‐Zaccai Tzipora C. , Khayat Morad , Luder Anthony , Frenkel Pnina , Magen Daniella , Brik Riva , Gershoni‐Baruch Ruth , Mandel Hanna 
Published: March 2009

AbstractProlidase deficiency (PD) is a rare, pan‐ethnic, autosomal recessive disease with a broad phenotypic spectrum. Seventeen causative mutations in the PEPD gene have been reported worldwide. The purpose of this study is to characterize, clinically and molecularly, 20 prolidase deficient patients of Arab Moslem and Druze origin from 10 kindreds residing in northern Israel. All PD patients manifested developmental delay and facial dysmorphism. Typical PD dermatological symptoms, splenomegaly, and recurrent respiratory infections presented in varying degrees. Two patients had systemic lupus erythematosus (SLE), and one a novel cystic fibrosis phenotype. Direct DNA sequencing revealed two novel missense mutations, A212P and L368R. In addition, a previously reported S202F mutation was detected in 17 patients from seven Druze and three Arab Moslem kindreds. Patients homozygous for the S202F mutation manifest considerable interfamilial and intrafamilial phenotypic variability. The high prevalence of this mutation among Arab Moslems and Druze residing in northern Israel, and the presence of an identical haplotype along 500,000 bp in patients and their parents, suggests a founder event tracing back to before the breakaway of the Druze from mainstream Moslem society. © 2009 Wiley‐Liss, Inc.
COMT val158met influence on electroconvulsive therapy response in major depression
Authors: Domschke Katharina , Zavorotnyy Maxim , Diemer Julia , Nitsche Sarina , Hohoff Christa , Baune Bernhard T. , Deckert Juergen , Arolt Volker , Zwanzger Peter 
Published: March 2009

AbstractThere is strong evidence for a genetic contribution to the pathogenesis of depression, with the functional catechol‐O‐methyltransferase (COMT) val158met polymorphism having been suggested as a potential susceptibility factor. In the present study, the effect of COMT val158met on response to electroconvulsive therapy (ECT) was analyzed in a sample of 104 Caucasian patients (f = 71, m = 33) with pharmacologically treatment‐resistant Major Depression. The higher active COMT 158val allele was found to be associated with (1) higher pre‐ECT severity of depression and (2) better treatment response to ECT particularly regarding the core symptoms of depression as well as sleep‐related symptoms. These findings were restricted to the female subgroup of patients. In summary, the present study supports a potentially gender‐specific significant impact of COMT gene variation on electroconvulsive therapy response, with COMT 158val risk allele carriers suffering from more severe, pharmacologically less efficiently treatable depression and thus possibly deriving greater benefit from ECT in the first place. © 2009 Wiley‐Liss, Inc.
An association study of common variation at the MAPT locus with late‐onset Alzheimer's disease
Authors: Abraham Richard , Sims Rebecca , Carroll Liam , Hollingworth Paul , O'Donovan Michael C. , Williams Julie , Owen Michael J. 
Published: March 2009

AbstractThe MAPT gene that encodes Tau is located on chromosome 17q21, in a region, which has evolved to form two major haplotypes, H1 and H2. There is strong evidence that the H1 haplotype, and a sub‐haplotype (H1C), are overrepresented and associated with increased risk for the sporadic tauopathies, progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). Both PSP and CBD cases display Tau pathology similar to Late‐Onset Alzheimer's Disease (LOAD). However, numerous association studies investigating the genetic involvement of MAPT in LOAD have generated conflicting results. Here we have used a large LOAD case–control sample to genotype SNPs that have been shown to define H1/H2 status and intra‐H1 variability. Single marker association analyses found no evidence that any of the SNPs are associated with risk of LOAD. When gender and APOE4 status were taken into account we observed suggestive association for SNP rs242557 (P = 0.02). Stratification of the sample revealed association with rs242557 only in APOE4 positive individuals (P = 0.01 recessive model), however this result would not survive multiple correction. There was no significant difference in H1/H2 haplotype distribution between cases and controls. We also tested the association of specific sub‐haplotypes on the H1 background and likewise results were negative. No effect was observed on disease age of onset for any of the markers studied. In summary, we find no evidence for allelic or haplotypic association, with SNPs in the MAPT gene and LOAD. SNP rs242557 is nominally significant in the APOE4 positive individuals. None of the SNPs studied modified AAO for LOAD. © 2009 Wiley‐Liss, Inc.
Radiation damage increases Purkinje neuron heterokaryons in neonatal cerebellum
Authors: Espejel Silvia , Romero Ricardo , Alvarez‐Buylla Arturo 
Published: March 2009

AbstractObjectiveRecent studies have shown that in radiated and bone marrow transplanted mice, bone marrow‐derived cells (BMDCs) fuse with Purkinje neurons resulting in the formation of binucleated heterokaryons. Here we investigated whether radiation plays a role in the formation of Purkinje neuron heterokaryons.MethodsFused cells were identified by reporter gene expression in mice, carrying floxed LacZ (R26R‐LacZ) in all cells and Cre in hematopoietic‐derived cells. Cell fusion was confirmed by the presence of two nuclei. The number of fused Purkinje neurons was studied in: 1) whole‐body radiated newborn and adult R26R‐LacZ mice, transplanted with bone marrow cells expressing Cre; 2) in newborn and adult mice that received different doses of radiation to the head; and 3) in radiated and non‐radiated newborns treated with a myeloablative drug before bone marrow transplantation.ResultsIn neonatal, but not in adult cerebelleum, radiation—in a dose‐dependent manner—induces a dramatic increase in the number of fused Purkinje neurons.InterpretationIncrease recruitment of BMDCs into the cerebellum, radiation damage to cerebellar cells, or both, increase the formation of fused Purkinje cells. BMDC‐Purkinje heterokaryons formation may reflect an endogeneous neuronal repair mechanism, or it could be a by‐product of radiation‐induced inflammation. In either case, fused Purkinje neurons increase following radiation damage in the developing cerebellum. The above observations reveal a novel consequence of head radiation in neonatal rodents. It will be interesting to determine if similar increase in the number of binucleated Purkinje neurons, occurs in children that receive radiation during early development. Ann Neurol 2009;66:100–109
White matter lesions volume and motor performances in the elderly
Authors: Soumaré Aïcha , Elbaz Alexis , Zhu Yicheng , Maillard Pauline , Crivello Fabrice , Tavernier Béatrice , Dufouil Carole , Mazoyer Bernard , Tzourio Christophe 
Published: March 2009

AbstractObjectivesTo investigate the cross‐sectional and longitudinal associations between performance‐based measures of motor function and volume of white matter lesions (WMLs), and to examine the influence of the localization of these lesions.MethodsAt baseline, motor performances (maximum walking speed, Tinetti gait and balance subscales) were assessed in 1,702 subjects aged 80 years or younger from the Dijon (France), France center of the Three‐City study. Volumes of WMLs lesions (total, periventricular, deep) were measured using an automated method of tissue segmentation and quantification of lesion size. At 8‐year follow‐up, walking speed was evaluated in 1,086 subjects.ResultsAt baseline, mean and 95% confidence interval (CI) walking speed was lower in subjects with total volumes of WMLs ≥90th percentile (1.50 [1.45–1.55] m/s) than in subjects with lower volumes (1.56 [1.55–1.58] m/s; p = 0.004). Baseline total volumes of WMLs above the 90th percentile predicted walking speed decline during follow‐up (odds ratio [95% CI] for having the greatest walking speed decline = 2.3 [1.3–4.1], p = 0.006). Moreover, high volumes of periventricular but not deep WMLs were associated with slower walking speed at baseline (p = 0.005) and over time (p = 0.001), and with lower Tinetti gait subscore (p = 0.02).InterpretationOur study shows a cross‐sectional and longitudinal association between high total volumes of WMLs, in particular volumes above the 90th percentile, and impaired mobility. These associations were independent of several confounders, including cognition, and were mainly accounted for by volumes of periventricular WMLs. These findings support the hypothesis of a vascular contribution to motor decline in the elderly. Ann Neurol 2009;65:706–715
Pivotal studies of orphan drugs approved for neurological diseases
Authors: Mitsumoto Jun , Dorsey E. Ray , Beck Christopher A. , Kieburtz Karl , Griggs Robert C. 
Published: March 2009

AbstractObjectiveTo identify design elements of clinical trials leading to US Food and Drug Administration approval of drugs for neurological diseases with and without orphan indications.MethodsWe used publicly available information to identify approvals for drugs for neurological diseases with an orphan indication (n = 19) and compared them with recent approvals for drugs for neurological diseases without an orphan indication (n = 20). We identified “pivotal trials” from drug labels and drug approval packages, and assessed them on four elements of clinical trial design: control, blinding, randomization, and size.ResultsAll drugs for neurological diseases (100%) approved without an orphan indication included at least two randomized, double‐blind, placebo‐controlled trials. In comparison, 32% of drugs with an orphan indication had at least two such trials (p < 0.001) and 74% had at least one (p = 0.02). Thirty‐three pivotal trials were conducted for the 19 drugs approved with an orphan indication. Of the 33 trials, 11 (33%) did not use a placebo control, 9 (27%) were not double blind, and 4 (12%) were not randomized. Drugs approved without an orphan indication had more pivotal trials per drug (3.8 vs 1.7 trials; p < 0.001) and a larger mean trial size (506 vs 164 trial participants; p < 0.001).InterpretationThe US Food and Drug Administration has approved orphan drugs for neurological diseases without randomized, doubled‐blind, placebo‐controlled pivotal trials. As orphan drug development grows, demand will likely increase for alternative designs for conducting adequate and well‐controlled studies to demonstrate drug efficacy. Ann Neurol 2009;66:184–190
Mild cognitive impairment in rapid eye movement sleep behavior disorder and Parkinson's disease
Authors: Gagnon Jean‐François , Vendette Mélanie , Postuma Ronald B. , Desjardins Catherine , Massicotte‐Marquez Jessica , Panisset Michel , Montplaisir Jacques 
Published: March 2009

AbstractObjectiveTo investigate the frequency and subtypes of mild cognitive impairment (MCI) in idiopathic rapid eye movement sleep behavior disorder (RBD) and Parkinson's disease (PD) in association with RBD.MethodsOne hundred and twelve subjects without dementia or major depression including 32 idiopathic RBD patients, 22 PD patients with polysomnography‐confirmed RBD, 18 PD patients without RBD, and 40 healthy control subjects, underwent a comprehensive neuropsychological evaluation. We compared the proportion of patients with MCI between groups using standard diagnostic criteria.ResultsMCI was found in 50% of idiopathic RBD patients and 73% of PD patients with RBD. In contrast, only 11% of PD patients without RBD and 8% of control subjects had MCI. The presence of MCI was significantly greater in idiopathic RBD patients and PD patients with RBD than in PD patients without RBD and control subjects. PD patients with RBD also performed worse than idiopathic RBD patients on neuropsychological tests assessing visuoconstructional and visuoperceptual abilities.InterpretationIn both its association with PD and its idiopathic form, RBD is an important risk factor for MCI. Except for visuoconstructional and visuoperceptual problems, RBD may be an important determinant of cognitive impairment in PD. Ann Neurol 2009;66:39–47
Solution Structure of a Locked Nucleic Acid Modified Quadruplex: Introducing the V4 Folding Topology
Authors: Nielsen Jakob T. , Arar Khalil , Petersen Michael 
Published: March 2009

AbstractScharfe Kurven: Die Struktur einer Telomersequenz aus Oxytricha nova, die mit einer konformativ festgelegten Nucleinsäure modifiziert wurde, unterscheidet sich durch ihre bemerkenswerte Faltung vom nativen O.‐nova‐Quadruplex. Jeder Guaninabschnitt bildet eine V‐Kurve, sodass der erste und vierte Guaninrest in derselben Tetrade liegen. Über den Tetraden ist das DNA‐Rückgrat scharf gekrümmt. Die Topologie wird durch ein Wechselspiel von Sequenz und Konformation definiert.magnified image
Auf dem Weg zum integrierten chemischen Schaltkreis
Authors: Belder Detlev 
Published: March 2009

AbstractAlles auf einem Chip: Aktuelle Entwicklungen in der Mikrofluidik machen es möglich, zwei Mikrofluidikbereiche – Mikrofluidik mit Tropfen und kontinuierliche Systeme – zu verbinden (siehe Bild). Dadurch rückt die Realisierung integrierter, komplexer Synthese‐ und Analyselabors auf einem Chip in greifbare Nähe; z. B. könnte man nach dem Baukastenprinzip mehrstufige Reaktionen zusammen mit Reinigung und Analytik auf einem Chip integrieren.magnified image
Spinpolarisierte Strukturen und Festkörper‐NMR‐Spektroskopie paramagnetischer Verbindungen
Authors: Schmedt auf der Günne Jörn 
Published: March 2009

AbstractInformationen über elektronische Spindichten und Kopplungsmechanismen paramagnetischer Verbindungen lassen sich mit hoher Empfindlichkeit und atomarer Auflösung durch Festkörper‐NMR‐Spektroskopie erhalten. Das Bild zeigt, wie die Hyperfeinaufspaltung durch Relaxation kollabiert. Welche Proben sind geeignet, welche Näherungen müssen gemacht werden?magnified image
Fehlerkorrektur während der Proteinbiosynthese
Authors: Sprinzl Mathias 
Published: March 2009

AbstractKorrigiert und aussortiert: Der Einbau einer falschen Aminosäure in eine wachsende Polypeptidkette führt zu einem Korrekturschritt, während dessen der Terminationsfaktor (RF1) das Peptid von der falsch gebundenen Peptidyl‐tRNA hydrolysiert (siehe Bild). Das fehlerhafte entstehende Polypeptid wird vom Ribosom freigesetzt und abgebaut.magnified image
Biotin–Avidin as a Protease‐Responsive Cap System for Controlled Guest Release from Colloidal Mesoporous Silica
Authors: Schlossbauer Axel , Kecht Johann , Bein Thomas 
Published: March 2009

AbstractTell your guests when it's time to go: When avidin caps are attached to biotinylated colloidal mesoporous silica, the four subunits of the protein avidin can each bind to a biotin moiety attached to the surface (see picture). The resulting material is a promising candidate for the design of smart detergents or drug‐delivery systems. The caps can be opened to release guest molecules by controlled enzymatic hydrolysis of the protein.magnified image
Solution‐Based Direct Growth of Organic Crystals on an Active Channel Region for Printable Bottom‐Contact Organic Field‐Effect Transistors
Authors: Hong Jung‐Pyo , Lee Seonghoon 
Published: March 2009

AbstractThe growth and self‐organization of organic crystals between a source (S) and drain (D) electrode by a method based on the use of a micropipette and isothermal evaporation of the solvent in a two‐liquid system led to the formation of organic‐crystal transistors (see polarized optical micrograph). The method is similar to ink‐jet printing and should be suitable for the fabrication of low‐cost and mass‐producible printed electronic devices.magnified image
Hydrogen Bonding in Protic Ionic Liquids: Reminiscent of Water
Authors: Fumino Koichi , Wulf Alexander , Ludwig Ralf 
Published: March 2009

AbstractSimilarities and differences: Far‐infrared spectra of protic ionic liquids could be assigned to intermolecular bending and stretching modes of hydrogen bonds. The characteristics of the low‐frequency spectra resemble those of water. Both liquids form three‐dimensional network structures, but only water is capable of building tetrahedral configurations. EAN: ethylammonium nitrate, PAN: propylammonium nitrate, DMAN: dimethylammonium nitrate.magnified image
Solution Structure of a Locked Nucleic Acid Modified Quadruplex: Introducing the V4 Folding Topology
Authors: Nielsen Jakob T. , Arar Khalil , Petersen Michael 
Published: March 2009

AbstractSharp curves: The structure of a locked nucleic acid modified telomeric sequence from Oxytricha nova displays a remarkable folding topology, distinct from the native O. nova quadruplex. Each guanine stretch folds back in a V‐shaped turn that puts the first and fourth guanines in the same tetrad, looping over a tetrad with a sharp turn in the DNA backbone, showing how subtle interplay between sequence and conformation defines the folding topology.magnified image
Palladium‐Catalyzed Oxidative Intermolecular Difunctionalization of Terminal Alkenes with Organostannanes and Molecular Oxygen
Authors: Urkalan Kaveri Balan , Sigman Matthew S. 
Published: March 2009

AbstractA cationic palladium complexcatalyzes the title transformations, which are thought to proceed via a π‐allyl or π‐benzyl intermediate. The regioselectivity of the reaction (1,2‐ or 1,1‐difunctionalization) depends on the type of terminal double bond (conjugated or nonconjugated) in the substrate (see scheme) and appears to be controlled by the relative rates of β‐hydride elimination and transmetalation. DMA=dimethylacetamide, Tf=triflyl.magnified image
Supramolecular Chiral Transcription and Recognition by Mesoporous Silica Prepared by Chiral Imprinting of a Helical Micelle
Authors: Qiu Huibin , Inoue Yoshihisa , Che Shunai 
Published: March 2009

AbstractLet′s twist again: The chirality of a helical propeller‐like micelle has been memorized by functional groups on the mesopore surface of chiral mesoporous silicas. Such imprinted supramolecular chirality can be transcripted to poly(propiolic acid) sodium salt and tetraphenylporphine tetrasulfonic acid (see picture), and recognized by B‐DNA.magnified image