bluuebunny/crossref_metadata_2025_split huggingface dataset:
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
Authors: Haack Tobias B. , Rolinski Boris , Haberberger Birgit , Zimmermann Franz , Schum Jessica , Strecker Valentina , Graf Elisabeth , Athing Uwe , Hoppen Thomas , Wittig Ilka , Sperl Wolfgang , Freisinger Peter , Mayr Johannes A. , Strom Tim M. , Meitinger Thomas , Prokisch Holger 
Published: May 2012

AbstractDefects of mitochondrial oxidative phosphorylation constitute a clinical and genetic heterogeneous group of disorders affecting multiple organ systems at varying age. Biochemical analysis of biopsy material demonstrates isolated or combined deficiency of mitochondrial respiratory chain enzyme complexes. Co‐occurrence of impaired activity of the pyruvate dehydrogenase complex has been rarely reported so far and is not yet fully understood. We investigated two siblings presenting with severe neonatal lactic acidosis, hypotonia, and intractable cardiomyopathy; both died within the first months of life. Muscle biopsy revealed a peculiar biochemical defect consisting of a combined deficiency of respiratory chain complexes I, II, and II+III accompanied by a defect of the pyruvate dehydrogenase complex. Joint exome analysis of both affected siblings uncovered a homozygous missense mutation in BOLA3. The causal role of the mutation was validated by lentiviral‐mediated expression of the mitochondrial isoform of wildtype BOLA3 in patient fibroblasts, which lead to an increase of both residual enzyme activities and lipoic acid levels. Our results suggest that BOLA3 plays a crucial role in the biogenesis of iron‐sulfur clusters necessary for proper function of respiratory chain and 2‐oxoacid dehydrogenase complexes. We conclude that broad sequencing approaches combined with appropriate prioritization filters and experimental validation enable efficient molecular diagnosis and have the potential to discover new disease loci.
Multivariate Block-Support Simulation of the Yandi Iron Ore Deposit, Western Australia
Authors: Boucher Alexandre , Dimitrakopoulos Roussos 
Published: May 2012

AbstractMineral deposits frequently contain several elements of interest that are spatially correlated and require the use of joint geostatistical simulation techniques in order to generate models preserving their spatial relationships. Although joint-simulation methods have long been available, they are impractical when it comes to more than three variables and mid to large size deposits. This paper presents the application of block-support simulation of a multi-element mineral deposit using minimum/maximum autocorrelation factors to facilitate the computationally efficient joint simulation of large, multivariable deposits. The algorithm utilized, termeddbmafsim, transforms point-scale spatial attributes of a mineral deposit into uncorrelated service variables leading to the generation of simulated realizations of block-scale models of the attributes of interest of a deposit. Thedbmafsimalgorithm is utilized at the Yandi iron ore deposit in Western Australia to simulate five cross-correlated elements, namely Fe, SiO2, Al2O3, P and LOI, that are all critical in defining the quality of iron ore being produced. The block-scale simulations reproduce the direct- and cross-variograms of the elements even though only the direct variograms of the service variables have to be modeled. The application shows the efficiency, excellent performance and practical contribution of thedbmafsimalgorithm in simulating large multi-element deposits.
Bacterial succession during 500 years of soil development under agricultural use
Authors: Cui Jun , Meng Han , Nie Ming , Chen Xueping , Li Zhaolei , Bu Naishun , Li Bo , Chen Jiakuan , Quan Zhexue , Fang Changming 
Published: May 2012

AbstractSoil bacterial succession under intensive anthropogenic disturbances is not well known. Using terminal restriction fragment length polymorphisms and 454 pyrosequencing of 16S rRNA genes, this study investigated how soil bacterial diversity and community structure changed under two agricultural land uses (paddy rice and upland cropping) in relation to soil development along a 500‐year chronosequence created by intermittent reclamation of estuarine salt marshes. Multivariate analysis revealed orderly changes in soil physicochemical properties and bacterial community structure with time, confirming the occurrence of soil development and bacterial succession. Patterns of soil development and bacterial succession resembled each other, with recent land uses affecting their trajectories but not the overall direction. Succession of bacterial community structure was mainly associated with changes in α‐Proteobacteria and Verrucomicrobia. Two stages of bacterial succession were observed, a dramatic‐succession stage during the first several decades when bacterial diversity increased evidently and bacterial community structure changed rapidly, and a long gradual‐succession stage that lasted for centuries. Canonical correspondence analysis identified soil Na+, potentially mineralizable nitrogen, total phosphorous, and crystallinity of iron oxyhydrates as potential environmental drivers of bacterial succession. To conclude, orderly succession of soil bacterial communities occurred along with the long‐term development of agroecosystems, which in turn was associated with soil physicochemical changes over time.
La dysfonction érectile au Congo : premières données sur la fréquence de ce motif de consultation et profil clinique au centre hospitalier universitaire de Brazzaville
Authors: Bouya A. P. , Odzebe A. W. S. , Mayala Maognan R. , Ondongo Atipo A. M. , Andzouana N. , Monabeka H. G. 
Published: May 2012

Résumé

Objectif
Étudier les facteurs de risque et les résultats des investigations diagnostiques de la dysfonction érectile en consultation urologique à Brazzaville.

Méthodologie
Il s’agissait d’une étude prospective concernant 40 patients âgés de 20 à 80 ans vus en consultation externe d’urologie-andrologie du centre hospitalier et universitaire de Brazzaville pour dysfonction érectile, de décembre 2009 à août 2010. Les renseignements de la fiche d’enquête concernaient l’âge, les antécédents, les facteurs de risque, les caractéristiques cliniques et paracliniques, et l’Index international de la fonction érectile (IIEF-5) dans sa version française. Les logiciels Epi info version 3.5.1 et SPSS 11.5 ont permis l’enregistrement et l’analyse des données. Le test de Khi 2 a été utilisé pour la comparaison des variables quantitatives et le test d’analyse de variance (ANOVA) pour les variables qualitatives. Le seuil de significativité était de 0,05.

Résultats
La fréquence de la dysfonction érectile était de 14,7 %, avec une moyenne d’âge de 50,7 ± 12,3 ans (27–77 ans). La tranche d’âge de 40 à 50 ans était la plus touchée. La durée moyenne de l’ancienneté était de 2,6 ± 2,2 ans (trois mois à neuf ans). Les pathologies associées ont été l’HTA (22,5 %) et le diabète (15 %). Les facteurs de risque retrouvés ont été l’alcoolisme (75 %), le tabagisme (25 %) et l’obésité (12,5 %). La dysfonction érectile était sévère dans 47,5 % des cas et la sévérité était corrélée à l’âge. Elle était insupportable dans 40 % des cas.

Conclusion
La dysfonction érectile concerne 14,7 % des patients vus en consultation urologique. Ce chiffre est certainement sous-estimé en raison des tabous et de la pudeur.
Situated knowledge–situated legitimacy: Consequences of citizen participation in local environmental governance
Authors: Leino Helena , Peltomaa Juha 
Published: May 2012

Abstract
This article examines how situated knowledge produced by citizens affects the construction and understanding of legitimacy in local environmental governance. By scrutinising a case from Finland where local citizens decided to take lake restoration in their own hands, we demonstrate how legitimacy is constructed in a specific local context. The main concepts used to interpret this dynamic are situated knowledge (Haraway, 1988; Lang, 2011) and situated legitimacy (Connelly, Richardson, & Miles, 2006). The paper shows how the local traditions together with the historical and social context have distinct effects on the construction of situated knowledge. Further, situated knowledge not only frames the boundaries and possibilities of local action, but also shapes the interpretations of legitimacy. Approaching the construction of knowledge and legitimacy from this perspective challenges the customary understanding of context in participatory practices and, as we suggest, has also the ability to improve these processes.
Effect of long-term, low-dose clarithromycin on T helper 2 cytokines, eosinophilic cationic protein and the ‘regulated on activation, normal T cell expressed and secreted’ chemokine in the nasal secretions of patients with nasal polyposis
Authors: Perić A , Vojvodić D , Matković-Jožin S 
Published: May 2012

AbstractBackground:Little is known about the effects of macrolides on the cytokines and chemokines that modulate the function of eosinophils in nasal polyposis.Methods:Twenty-two non-allergic and 18 allergic patients with nasal polyps were administered clarithromycin 500 mg/day (single oral dose) for eight weeks. We measured the nasal secretion levels of the T helper 2 (also known as Th2) cytokines interleukin 4, 5 and 6, the ‘regulated on activation, normal T cell expressed and secreted’ (also known as RANTES) chemokine, and the eosinophilic cationic protein, before and after treatment.Results:After clarithromycin treatment, we found reduced levels of the ‘regulated on activation, normal T cell expressed and secreted’ chemokine in samples from both non-allergic and allergic patients (p < 0.05). Clarithromycin treatment decreased the levels of eosinophilic cationic protein only in non-allergic patients (p < 0.05), and decreased the level of interleukin 6 only in allergic patients (p < 0.05). Decreased levels of the ‘regulated on activation, normal T cell expressed and secreted’ chemokine were associated with a reduction in polyp size both in non-allergic and allergic patients.Conclusion:Clarithromycin has a strong anti-inflammatory effect in nasal polyposis, but has different immunomodulatory effects in allergic and non-allergic nasal polyposis patients.
Prevalence of MTHFR C677T and MS A2756G polymorphisms in major depressive disorder, and their impact on response to fluoxetine treatment
Authors: Mischoulon David , Lamon-Fava Stefania , Selhub Jacob , Katz Judith , Papakostas George I. , Iosifescu Dan V. , Yeung Albert S. , Dording Christina M. , Farabaugh Amy H. , Clain Alisabet J. , Baer Lee , Alpert Jonathan E. , Nierenberg Andrew A. , Fava Maurizio 
Published: May 2012

AbstractObjectiveTo examine the prevalence of the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and the A2756G polymorphism of methionine synthase (MS), and their impact on antidepressant response.MethodsWe screened 224 subjects (52% female, mean age 39 ± 11 years) with SCID-diagnosed major depressive disorder (MDD), and obtained 194 genetic samples. 49 subjects (49% female, mean age 36 ± 11 years) participated in a 12-week open clinical trial of fluoxetine 20–60 mg/day. Association between clinical response and C677T and A2756G polymorphisms, folate, B12, and homocysteine was examined.ResultsPrevalence of the C677T and A2756G polymorphisms was consistent with previous reports (C/C = 41%, C/T = 47%, T/T = 11%, A/A = 66%, A/G = 29%, G/G = 4%). In the fluoxetine-treated subsample (n = 49), intent-to-treat (ITT) response rates were 47% for C/C subjects and 46% for pooled C/T and T/T subjects (nonsignificant). ITT response rates were 38% for A/A subjects and 60% for A/G subjects (nonsignificant), with no subjects exhibiting the G/G homozygote. Mean baseline plasma B12 was significantly lower in A/G subjects compared to A/A, but folate and homocysteine levels were not affected by genetic status. Plasma folate was negatively associated with treatment response.ConclusionThe C677T and A2756G polymorphisms did not significantly affect antidepressant response. These preliminary findings require replication in larger samples.
The role of a lifetime history of oppositional defiant and conduct disorders in adults with ADHD: implications for clinical practice
Authors: Vitola Eduardo S. , Salgado Carlos A. I. , Silva Katiane L. , Karam Rafael G. , Victor Marcelo M. , Mota Nina R. , Contini Verônica , Picon Felipe A. , Guimarães-da-Silva Paula O. , Giordani Rafael S. , Rohde Luis A. , Belmonte-de-Abreu Paulo , Bau Claiton H. D. , Grevet Eugenio H. 
Published: May 2012

IntroductionAttention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), and conduct disorder (CD) are frequently co-occurring disorders in children and adolescents. However, their clinical status among adults is still under discussion. This study analyzes how the current clinical presentation of adult ADHD might be influenced by a lifetime history of CD and ODD.MethodsWe compared three groups of patients: ADHD without history of CD/ODD (n = 178), ADHD + history of ODD (n = 184), and ADHD + history of CD (n = 96).ResultsA history of CD (and to a lower extent ODD) is associated with a more severe and externalizing profile.ConclusionPast CD and ODD entail a significant negative mental health impact on persistent ADHD, reinforcing the importance of actively assessing the developmental history of adult ADHD patients.
Clinical features of tic-related obsessive-compulsive disorder: results from a large multicenter study
Authors: de Alvarenga Pedro Gomes , de Mathis Maria Alice , Dominguez Alves Anna Claudia , do Rosário Maria Conceição , Fossaluza Victor , Hounie Ana Gabriela , Miguel Euripedes Constantino , Torres Albina Rodrigues 
Published: May 2012

ObjectiveTo evaluate the clinical features of obsessive-compulsive disorder (OCD) patients with comorbid tic disorders (TD) in a large, multicenter, clinical sample.MethodA cross-sectional study was conducted that included 813 consecutive OCD outpatients from the Brazilian OCD Research Consortium and used several instruments of assessment, including the Yale-Brown Obsessive-Compulsive Scale, the Dimensional Yale-Brown Obsessive-Compulsive Scale, the Yale Global Tic Severity Scale (YGTSS), the USP Sensory Phenomena Scale, and the Structured Clinical Interview for DSM-IV Axis I Disorders.ResultsThe sample mean current age was 34.9 years old (SE 0.54), and the mean age at obsessive-compulsive symptoms (OCS) onset was 12.8 years old (SE 0.27). Sensory phenomena were reported by 585 individuals (72% of the sample). The general lifetime prevalence of TD was 29.0% (n= 236), with 8.9% (n= 72) presenting Tourette syndrome, 17.3% (n= 141) chronic motor tic disorder, and 2.8% (n= 23) chronic vocal tic disorder. The mean tic severity score, according to the YGTSS, was 27.2 (SE 1.4) in the OCD + TD group. Compared to OCD patients without comorbid TD, those with TD (OCD + TD group,n= 236) were more likely to be males (49.2% vs. 38.5%, p < .005) and to present sensory phenomena and comorbidity with anxiety disorders in general: separation anxiety disorder, social phobia, specific phobia, generalized anxiety disorder, post-traumatic stress disorder, attention-deficit hyperactivity disorder, impulse control disorders in general, and skin picking. Also, the “aggressive,” “sexual/religious,” and “hoarding” symptom dimensions were more severe in the OCD + TD group.ConclusionTic-related OCD may constitute a particular subgroup of the disorder with specific phenotypical characteristics, but its neurobiological underpinnings remain to be fully disentangled.
VALENTINI’S CUT-ELIMINATION FOR PROVABILITY LOGIC RESOLVED
Authors: GORÉ RAJEEV , RAMANAYAKE REVANTHA 
Published: May 2012

Valentini (1983) has presented a proof of cut-elimination for provability logic GL for a sequent calculus using sequents built from sets as opposed to multisets, thus avoiding an explicit contraction rule. From a formal point of view, it is more syntactic and satisfying to explicitly identify the applications of the contraction rule that are ‘hidden’ in proofs of cut-elimination for such sequent calculi. There is often an underlying assumption that the move to a proof of cut-elimination for sequents built from multisets is straightforward. Recently, however, it has been claimed that Valentini’s arguments to eliminate cut do not terminate when applied to a multiset formulation of the calculus with an explicit rule of contraction. The claim has led to much confusion and various authors have sought new proofs of cut-elimination for GL in a multiset setting.Here we refute this claim by placing Valentini’s arguments in a formal setting and proving cut-elimination for sequents built from multisets. The use of sequents built from multisets enables us to accurately account for the interplay between the weakening and contraction rules. Furthermore, Valentini’s original proof relies on a novel induction parameter called “width” which is computed ‘globally’. It is difficult to verify the correctness of his induction argument based on “width.” In our formulation however, verification of the induction argument is straightforward. Finally, the multiset setting also introduces a new complication in the case of contractions above cut when the cut-formula is boxed. We deal with this using a new transformation based on Valentini’s original arguments.Finally, we discuss the possibility of adapting this cut-elimination procedure to other logics axiomatizable by formulae of a syntactically similar form to the GL axiom.
Autocorrelation characteristics of surface ocean pCO2and air‐sea CO2 fluxes
Authors: Jones S. D. , Le Quéré C. , Rödenbeck C. 
Published: May 2012

Understanding the variability and coherence of surface ocean pCO2 on a global scale can provide insights into its physical and biogeochemical drivers and inform future samplings strategies and data assimilation methods. We present temporal and spatial autocorrelation analyses of surface ocean pCO2on a 5° × 5° grid using the Lamont‐Doherty Earth Observatory database. The seasonal cycle is robust with an interannual autocorrelation of ∼0.4 across multiple years. The global median spatial autocorrelation (e‐folding) length is 400 ± 250 km, with large variability across different regions. Autocorrelation lengths of up to 3,000 km are found along major currents and basin gyres while autocorrelation lengths as low as 50 km are found in coastal regions and other areas of physical turbulence. Zonal (east–west) autocorrelation lengths are typically longer than their meridional counterparts, reflecting the zonal nature of many major ocean features. Uncertainties in spatial autocorrelation in different ocean basins are between 42% and 73% of the calculated decorrelation length. The spatial autocorrelation length in air‐sea fluxes is much shorter than forpCO2 (200 ± 150 km) due to the high variability of the gas transfer velocity.
Energetic electron fluxes at Saturn from Cassini observations
Authors: Tang Rongxin , Summers Danny 
Published: May 2012

Energetic electron fluxes (18 keV–21 MeV) observed by the MIMI/LEMMS instrument on the Cassini mission during 2004 to 2008 are analyzed. We consider all 101 orbits and we select portions of the orbits that lie within 0.5 RS of the magnetic equatorial plane, where RS is Saturn's radius. We determine the average electron differential flux and integral flux at specified L‐shells in the range 4.5 < L < 11. Further, comparisons are made between the observed fluxes and the corresponding relativistic self‐limiting values developed from Kennel‐Petschek theory. We find that at lower L‐shells, L < 5, measured fluxes are much less than limiting values; at intermediate L‐shells, 5 < L < 7, measured fluxes are close to the Kennel‐Petschek limit; and at larger L‐shells, 7 < L < 10, measured fluxes well exceed the limit. This suggests that (1) at lower L‐shells particle injection is relatively weak, (2) at intermediate L‐shells, sufficiently strong particle injections generate whistler mode waves to self‐limit trapped fluxes, and (3) at larger L‐shells, intense particle injections result in trapped particle fluxes well in excess of the Kennel‐Petschek limit.
Kinetic ballooning/interchange instability in a bent plasma sheet
Authors: Panov E. V. , Nakamura R. , Baumjohann W. , Kubyshkina M. G. , Artemyev A. V. , Sergeev V. A. , Petrukovich A. A. , Angelopoulos V. , Glassmeier K.‐H. , McFadden J. P. , Larson D. 
Published: May 2012

We use Time History of Events and Macroscale Interactions during Substorms (THEMIS) and GOES observations to investigate the plasma sheet evolution on 28 February 2008 between 6:50 and 7:50 UT, when there developed strong magnetic field oscillations with periods of 100 s. Using multispacecraft analysis of the plasma sheet observations and an empirical plasma sheet model, we determine both the large‐scale evolution of the plasma sheet and the properties of the oscillations. We found that the oscillations exhibited signatures of kinetic ballooning/interchange instability fingers that developed in a bent current sheet. The interchange oscillations had a sausage structure, propagated duskward at a velocity of about 100 km/s, and were associated with fast radial electron flows. We suggest that the observed negative gradient of the ZGSM magnetic field component (∂BZ/∂X) was a free energy source for the kinetic ballooning/interchange instability. Tens of minutes later a fast elongation of ballooning/interchange fingers was detected between 6 and 16 RE downtail with the length‐to‐width ratio exceeding 20. The finger elongation ended with signatures of reconnection in an embedded current sheet near the bending point. These observations suggest a complex interplay between the midtail and near‐Earth plasma sheet dynamics, involving localized fluctuations in both cross‐tail and radial directions before current sheet reconnection.
The Role of Streamflow and Land Use in Limiting Oversummer Survival of Juvenile Steelhead in California Streams
Authors: Grantham Theodore E. , Newburn David A. , McCarthy Michael A. , Merenlender Adina M. 
Published: May 2012

AbstractIncreasing human pressures on freshwater resources have led to global declines in fish populations and have made the protection of instream flows critical to the conservation of riverine ecosystems. However, uncertainty in predicting ecological responses to flow variability has hindered implementation of successful environmental flow management. An improved understanding of the relationships between streamflows and Pacific salmon Oncorhynchus spp. population persistence is particularly needed in semiarid regions such as California, where streamflows during the dry season are highly variable and increasingly threatened by withdrawals to meet human water demands. To examine the effects of summer low flows on a threatened salmonid species, we analyzed 9 years of count data for juvenile steelhead O. mykiss from nine stream reaches in four coastal California watersheds. We used a Bayesian modeling framework to examine the relative influences of streamflow, land use, and habitat quality on juvenile steelhead oversummer survival. An estimated mean survival of 30% suggested that the dry season is a significant period of stress for juvenile steelhead rearing in tributary streams. The models indicated that the magnitude of summer flow and the duration of low‐flow conditions were both important in explaining interannual variation in juvenile survival rates, which showed a consistent increasing trend with higher early and late‐summer flows among all sites. The results also suggested an adverse effect of intensive agricultural land use on juvenile steelhead populations, while local habitat suitability had a positive effect. Although additional research is needed to identify the mechanisms by which flow influences fish survival in the dry season, these findings indicate that water quantity is a potential limiting factor to juvenile steelhead survival in coastal California watersheds and suggest that protection of summer streamflows is important for the conservation of threatened salmonid populations.