bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prominent brainstem and cerebellar involvement in multiple sclerosis with psoriasis
Authors: Ganesvaran G , Greer JM , Pender MP 
Published: May 2009

Introduction We identified a subgroup of 20 patients with multiple sclerosis (MS) and psoriasis within a total group of 692 patients with MS. Results There was a high (80%) incidence of brainstem and/or cerebellar involvement and a high mean (±SD) Multiple Sclerosis Severity Score (6.06 ± 2.88) in this subgroup. Of the patients who were human leukocyte antigen typed, 53% carried the MS-associated allele, DRB1*1501, and 27% carried the psoriasis-associated DRB1*07 allele. Conclusion The high incidence of brainstem and cerebellar involvement might be explained by the greater severity of MS and the high frequency (60%) of carriage of DRB1*04, DRB1*07, and/or DRB1*13 alleles, which are associated with brainstem and cerebellar involvement in MS.
Familial spontaneous pneumothorax and lung cysts due to aFolliculinexon 10 mutation
Authors: Sundaram S. , Tasker A. D. , Morrell N. W. 
Published: May 2009

Approximately 10% of patients who have a spontaneous pneumothorax have a positive family history. In 1977, Birt, Hogg and Dube (BHD) described a genodermatosis characterised by benign tumours of the hair follicle that has been associated with renal neoplasms and spontaneous pneumothorax. The BHD locus is located on chromosome 17p11.2 and is now known to be due to heterozygous germline mutations in theFolliculingene.We report three generations of an English family who suffered spontaneous pneumothoraces in the absence of other features of the BHD syndrome and were found to have lung cysts. In addition, we report an antenatal diagnosis (34 weeks gestation) of lung cysts in one affected family member. Genetic analysis in the family has revealed a unique deletion mutation (c. 1537 del-C) involving exon 10.To our knowledge, this mutation has not been previously described and there is no previous report of antenatal detection of the pulmonary abnormality in BHD syndrome.
Quantifying intervention-related improvements in exercise tolerance
Authors: Whipp B. J. , Ward S. A. 
Published: May 2009

Among the benefits expected to result from a therapeutic intervention in patients with impaired systemic functioning is an increase in exercise tolerance. For this a constant high-intensity work rate has been shown to provide a more sensitive index of improvement than the maximum work rate, or oxygen uptake, on a symptom-limited incremental test.However, the extremely large variability of the improvement in this particular index of tolerance undermines the ability to make general inferences for the underlying functional improvement. We argue that this is a necessary consequence of the particular work rate chosen for the test and the change in the parameters of the subject's hyperbolic power–duration relationship for that form of exercise: its “critical power” and “curvature constant”.Without knowledge of these features, any absolute or per cent increase in tolerance time to a single constant-load exercise bout must be interpreted with caution regarding the physiological benefit(s) that have accrued from the intervention.
Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease
Authors: Khaldi H. , Marchand-Adam S. , Kannengiesser C. , Fabre A. , Debray M. P. , Danel C. , Gougerot-Pocidalo M-A. , El Benna J. , Humbert M. , Aubier M. , Crestani B. 
Published: May 2009

The present authors report the case of an adult with chronic granulomatous disease who developed an unusual lung fibrosis associated with severe pulmonary hypertension.Histological analysis of a lung biopsy showed a diffuse infiltration with pigmented macrophages without granulomas, which particularly involved the pulmonary arterial and venular walls. Clinical and histological findings were suggestive of pulmonary veno-occlusive disease.Such a clinical association has not been previously described in the literature and might be due to the persistent expression of gp91phox at a very low level.In conclusion, the present case report illustrates a novel manifestation of chronic granulomatous disease.
Steps forward in LRTI and tuberculosis: update from the ERS Respiratory Infections Assembly
Authors: Blasi F. , Cosentini R. , Migliori G. B. , Boersma W. 
Published: May 2009

Lower respiratory tract infections (LRTIs) and tuberculosis are among the leading reasons for seeking medical care.In the present report, the most recent advances in the fields of clinical research and basic science of LRTIs and tuberculosis are presented through analysis of some of the best abstracts presented at the 18th European Respiratory Society Annual Congress in Berlin.The role of viruses in chronic obstructive pulmonary disease exacerbations and the importance of new biomarkers in the diagnosis of bacterial infections in LRTI are discussed.New tools for the diagnosis of latent and active tuberculosis in special subgroups of patients (children, immunocompromised individuals,etc.), and the new epidemiological threat of multidrug-resistant and extensively drug-resistant tuberculosis cases is analysed.
Molecular characterization of a rice mutator-phenotype derived from an incompatible cross-pollination reveals transgenerational mobilization of multiple transposable elements and extensive epigenetic instability
Authors: Wang Hongyan , Chai Yang , Chu Xiucheng , Zhao Yunyang , Wu Ying , Zhao Jihong , Ngezahayo Frédéric , Xu Chunming , Liu Bao 
Published: May 2009

AbstractBackgroundInter-specific hybridization occurs frequently in plants, which may induce genetic and epigenetic instabilities in the resultant hybrids, allopolyploids and introgressants. It remains unclear however whether pollination by alien pollens of an incompatible species may impose a "biological stress" even in the absence of genome-merger or genetic introgression, whereby genetic and/or epigenetic instability of the maternal recipient genome might be provoked.ResultsWe report here the identification of a rice mutator-phenotype from a set of rice plants derived from a crossing experiment involving two remote and apparently incompatible species,Oryza sativaL. andOenothera biennisL. The mutator-phenotype (named Tong211-LP) showed distinct alteration in several traits, with the most striking being substantially enlarged panicles. Expectably, gel-blotting by total genomic DNA of the pollen-donor showed no evidence for introgression. Characterization of Tong211-LP (S0) and its selfed progenies (S1) ruled out contamination (via seed or pollen) or polyploidy as a cause for its dramatic phenotypic changes, but revealed transgenerational mobilization of several previously characterized transposable elements (TEs), including a MITE (mPing), and three LTR retrotransposons (Osr7, Osr23andTos17). AFLP and MSAP fingerprinting revealed extensive, transgenerational alterations in cytosine methylation and to a less extent also genetic variation in Tong211-LP and its immediate progenies.mPingmobility was found to correlate with cytosine methylation alteration detected by MSAP but not with genetic variation detected by AFLP. Assay by q-RT-PCR of the steady-state transcript abundance of a set of genes encoding for the various putative DNA methyltransferases, 5-methylcytosine DNA glycosylases, and small interference RNA (siRNA) pathway-related proteins showed that, relative to the rice parental line, heritable perturbation in expression of 12 out of the 13 genes occurred in the mutator-phenotype and its sefled progenies.ConclusionTransgenerational epigenetic instability in the form of altered cytosine methylation and its associated TE activity occurred in a rice mutator-phenotype produced by pollinating the rice stigma with pollens ofO. biennis. Heritably perturbed homeostatic expression-state of genes involved in maintenance of chromatin structure is likely an underlying cause for the alien pollination-induced transgenerational epigenetic/genetic instability, and which occurred apparently without entailing genome merger or genetic introgression.
Rapid diagnosis of spinal muscular atrophy using High-Resolution Melting Analysis
Authors: Chen Wan Jin , Dong Wan Juan , Lin Xiao Zhen , Lin Min Ting , Murong Shen Xing , Wu Zhi Ying , Wang Ning 
Published: May 2009

Abstract

Background
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disorder caused by mutations of the survival motor neuron 1 (SMN1) gene. Recently, high-resolution DNA melting analysis (HRMA) with saturation LC Green dyes has become a powerful post-PCR technique for genotyping or mutation scanning. So far, no studies have applied HRMA to the molecular analysis of SMA.

Methods
The exon 7 and the flanking area of the SMN1 and SMN2 genes of 55 SMA patients and 46 unrelated normal individuals were amplified with asymmetric PCR with unlabeled probe and symmetric PCR without probe, respectively. The saturation LC Green dyes were added to the PCR system. The PCR products were loaded onto the LightScanner system and were melted from 60°C to 95°C slowly. The melting curves were acquired and analyzed by the LightScanner software.

Results
Three types of melting curves that correlated with the presumed genotype of SMA patients and controls were clearly separated on the HRMA chromatogram with the unlabeled probe. The 55 SMA patients and 46 non-SMA controls were identified with HRMA with a 100% clinical sensitivity.

Conclusion
The HRMA with saturation LC Green dyes and unlabeled probe appears to be a suitable, alternative method for the diagnosis of SMA, with high sensitivity and specificity.
All-trans retinoic acid down-regulates inflammatory responses by shifting the Treg/Th17 profile in human ulcerative and murine colitis
Authors: Bai Aiping , Lu Nonghua , Guo Yuan , Liu Zhanju , Chen Jiang , Peng Zhikang 
Published: May 2009

Abstract
All-trans retinoic acid inhibits inflammatory responses of human ulcerative and murine colitis.
IBD is characterized by uncontrolled immune responses in inflamed mucosa, with dominance of IL-17-producing cells and deficiency of Treg cells. The aim of this study was to explore the effect and mechanisms of RA, the ligand of RARα, on immune responses in human and murine colitis. Colonic biopsies from patients with UC were cultured and treated with RA as the agonist of RARα or LE135 as the antagonist of RARα. Expressions of IL-17 and FOXP3 were detected by immunohistochemistry. Murine colitis was induced by intrarectal administration with TNBS at Day 1. Mice were then i.p.-treated with RA or LE135 daily for 7 days. Cytokine levels in the cultures of mouse LPMCs were measured. Expressions of FOXP3 and IL-17 in colon tissues or MLN were detected by immunohistological analysis. Body weight and colon inflammation were evaluated. RA treatment up-regulated FOXP3 expression and down-regulated IL-17 expression in colon biopsies of patients and in colon tissues and MLN of mice with colitis compared with controls. LPMCs from RA-treated mice produced lower levels of proinflammatory cytokines (TNF-α, IL-1β, IL-17) but more regulatory cytokines (IL-10, TGF-β) compared with that of untreated mice. LE135 showed the opposite effect of RA. Furthermore, RA ameliorated TNBS-induced colitis in a dose-dependent manner, as seen by improved body weight and colon inflammation. RA down-regulates colon inflammatory responses in patients with IBD in vitro and in murine colitis in vivo, representing a potential therapeutic approach in IBD treatment.
Strengths and Difficulties Questionnaire Added Value Scores:
evaluating effectiveness in child mental health
interventions
Authors: Ford Tamsin , Hutchings Judy , Bywater Tracey , Goodman Anna , Goodman Robert 
Published: May 2009

BackgroundRoutine outcome monitoring may improve clinical services but remains
controversial, partly because the absence of a control group makes
interpretation difficult.AimsTo test a computer algorithm designed to allow practitioners to compare
their outcomes with epidemiological data from a population sample against
data from a randomised controlled trial, to see if it accurately
predicted the trial's outcome.MethodWe developed an ‘added value’ score using epidemiological data on the
Strengths and Difficulties Questionnaire (SDQ). We tested whether it
correctly predicted the effect size for the control and intervention
groups in a randomised controlled trial.ResultsAs compared with the a priori expectation of zero, the Added Value Score
applied to the control group predicted an effect size of 70.03 (95% CI
70.30 to 0.24, t = 0.2, P = 0.8). As
compared with the trial estimate of 0.37, the Added Value Score applied
to the intervention group predicted an effect size of 0.36 (95% CI 0.12
to 0.60, t = 0.1, P = 0.9).ConclusionsOur findings provide preliminary support for the validity of this
approach as one tool in the evaluation of interventions with groups of
children who have, or are at high risk of developing, significant
psychopathology.
Do current environmental conditions explain physiological and metabolic responses of subterranean crustaceans to cold?
Authors: Colson-Proch Céline , Renault David , Gravot Antoine , Douady Christophe J. , Hervant Frédéric 
Published: May 2009

SUMMARYSubterranean environments are characterized by the quasi absence of thermal variations (±1°C within a year), and organisms living in these biotopes for several millions of years, such as hypogean crustaceans, can be expected to have adapted to this very stable habitat. As hypogean organisms experience minimal thermal variation in their native biotopes, they should not be able to develop any particular cold adaptations to cope with thermal fluctuations. Indeed, physiological responses of organisms to an environmental stress are proportional to the amplitude of the stress they endure in their habitats. Surprisingly, previous studies have shown that a population of an aquatic hypogean crustacean, Niphargus rhenorhodanensis, exhibited a high level of cold hardiness. Subterranean environments thus appeared not to be following the classical above-mentioned theory. To confirm this counter-example, we studied seven karstic populations of N. rhenorhodanensis living in aquifers at approximately 10°C all year round and we analysed their behavioural, metabolic and biochemical responses during cold exposure (3°C). These seven populations showed reduced activities, and some cryoprotective molecules were accumulated. More surprisingly, the amplitude of the response varied greatly among the seven populations, despite their exposure to similar thermal conditions. Thus, the overall relationship that can be established between the amplitude of thermal variations and cold-hardiness abilities of ectotherm species may be more complex in subterranean crustaceans than in other arthropods.
Cross-modality priming of visual and olfactory selective attention by a spider that feeds indirectly on vertebrate blood
Authors: Cross Fiona R. , Jackson Robert R. 
Published: May 2009

SUMMARYEvarcha culicivora, a jumping spider from East Africa, specialises in feeding indirectly on vertebrate blood by choosing blood-carrying mosquitoes as preferred prey. Previous studies have shown that this predator can identify its preferred prey by sight alone and also by odour alone. Here we investigate how vision and olfaction work together. Our findings show that,for E. culicivora, cross-modality priming in the context of preying on blood-carrying mosquitoes works in two directions. However, we found no evidence of priming in the context of predation on less preferred prey(midges). When the spider's task was, by sight alone, to find a cryptic lure,it found mosquitoes significantly more often when the odour of mosquitoes was present than when this odour was not present. When the spider's task was to find masked odour, it found mosquitoes significantly more often after previously seeing mosquitoes than when it had not previously seen mosquitoes. When the spider's task was to find conspicuous lures or unmasked odour, the identity of the priming stimulus appeared to be irrelevant. Results were similar regardless of the spider's previous experience with prey and suggest that E. culicivora has an innate inclination to adopt vision-based search images specifically for mosquitoes when primed by mosquito odour and to adopt olfaction-based search images specifically when primed by seeing mosquitoes.
A finely tuned strategy adopted by an egg parasitoid to exploit chemical traces from host adults
Authors: Salerno G. , Frati F. , Conti E. , De Pasquale C. , Peri E. , Colazza S. 
Published: May 2009

SUMMARY
Scelionid egg parasitoids can obtain reliable information on the presence of host eggs by discriminating host gender on the basis of chemical footprints of their co-evolved hosts, with a strong preference for the footprint left by host females. Based on the concept of dietary specialization and infochemical use in natural enemies, it could be predicted that host gender discrimination in specialist species belonging to the genus Trissolcus is further tuned to specific cues from distinctive chemical traces left by host females as a consequence of copulation and/or oviposition. To test this hypothesis we used the system Murgantia histrionica – Trissolcus brochymenae. Our results showed that the females of the egg parasitoid search intensely on chemical traces left on the substrate by host females that had mated but had not yet laid host eggs compared with the chemical traces left by virgin or parous host females. This preference for mated females that had not yet laid host eggs was strictly related to the transfer of sperm and associated substances from males to females during copulation. The compounds that mediated the arrestment response of T. brochymenae females are part of the host cuticle, and those that play a role as gender-specific cues seemed to be present in the legs of the host adult. This result represents an interesting new piece of information regarding the exploitation of indirect host-related cues by egg parasitoids. It reveals the existence of a finely tuned strategy that allows the parasitoid to find newly laid host eggs, as chemical traces left by mated host females that have not yet laid eggs are strongly correlated with the moment of oviposition.
Regulation of gill transcellular permeability and renal function during acute hypoxia in the Amazonian oscar (Astronotus ocellatus): new angles to the osmorespiratory compromise
Authors: Wood Chris M. , Iftikar Fathima I. , Scott Graham R. , De Boeck Gudrun , Sloman Katherine A. , Matey Victoria , Valdez Domingos Fabiola X. , Duarte Rafael Mendonça , Almeida-Val Vera M. F. , Val Adalberto L. 
Published: May 2009

SUMMARYEarlier studies demonstrated that oscars, endemic to ion-poor Amazonian waters, are extremely hypoxia tolerant, and exhibit a marked reduction in active unidirectional Na+ uptake rate (measured directly) but unchanged net Na+ balance during acute exposure to low PO2, indicating a comparable reduction in whole body Na+ efflux rate. However, branchial O2 transfer factor does not fall. The present study focused on the nature of the efflux reduction in the face of maintained gill O2 permeability. Direct measurements of 22Na appearance in the water from bladder-catheterized fish confirmed a rapid 55% fall in unidirectional Na+ efflux rate across the gills upon acute exposure to hypoxia(PO2=10–20 torr; 1 torr=133.3 Pa), which was quickly reversed upon return to normoxia. An exchange diffusion mechanism for Na+ is not present, so the reduction in efflux was not directly linked to the reduction in Na+ influx. A quickly developing bradycardia occurred during hypoxia. Transepithelial potential, which was sensitive to water [Ca2+], became markedly less negative during hypoxia and was restored upon return to normoxia. Ammonia excretion, net K+ loss rates, and 3H2O exchange rates(diffusive water efflux rates) across the gills fell by 55–75% during hypoxia, with recovery during normoxia. Osmotic permeability to water also declined, but the fall (30%) was less than that in diffusive water permeability (70%). In total, these observations indicate a reduction in gill transcellular permeability during hypoxia, a conclusion supported by unchanged branchial efflux rates of the paracellular marker [3H]PEG-4000 during hypoxia and normoxic recovery. At the kidney, glomerular filtration rate, urine flow rate, and tubular Na+ reabsorption rate fell in parallel by 70% during hypoxia, facilitating additional reductions in costs and in urinary Na+, K+ and ammonia excretion rates. Scanning electron microscopy of the gill epithelium revealed no remodelling at a macro-level, but pronounced changes in surface morphology. Under normoxia,mitochondria-rich cells were exposed only through small apical crypts, and these decreased in number by 47% and in individual area by 65% during 3 h hypoxia. We suggest that a rapid closure of transcellular channels, perhaps effected by pavement cell coverage of the crypts, allows conservation of ions and reduction of ionoregulatory costs without compromise of O2exchange capacity during acute hypoxia, a response very different from the traditional osmorespiratory compromise.
Embryonic temperature affects muscle fibre recruitment in adult zebrafish: genome-wide changes in gene and microRNA expression associated with the transition from hyperplastic to hypertrophic growth phenotypes
Authors: Johnston Ian A. , Lee Hung-Tai , Macqueen Daniel J. , Paranthaman Karthikeyani , Kawashima Cintia , Anwar Attia , Kinghorn James R. , Dalmay Tamas 
Published: May 2009

SUMMARY
We investigated the effects of embryonic temperature (ET) treatments (22,26 and 31°C) on the life-time recruitment of fast myotomal muscle fibres in zebrafish Danio rerio L. reared at 26/27°C from hatching. Fast muscle fibres were produced until 25 mm total length (TL) at 22°C ET, 28 mm TL at 26°C ET and 23 mm TL at 31°C ET. The final fibre number (FFN)showed an optimum at 26°C ET (3600) and was 19% and 14% higher than for the 22°C ET (3000) and 31°C ET (3100) treatments, respectively. Further growth to the maximum TL of ∼48 mm only involved fibre hypertrophy. Microarray experiments were used to determine global changes in microRNA (miRNA) and mRNA expression associated with the transition from the hyperplasic myotube-producing phenotype (M+, 10–12 mm TL) to the hypertrophic growth phenotype (M–, 28–31 mm TL) in fish reared at 26–27°C over the whole life-cycle. The expression of miRNAs and mRNAs obtained from microarray experiments was validated by northern blotting and real-time qPCR in independent samples of fish with the M+ and M– phenotype. Fourteen down-regulated and 15 up-regulated miRNAs were identified in the M– phenotype together with 34 down-regulated and 30 up-regulated mRNAs (&gt;2-fold; P&lt;0.05). The two most abundant categories of down-regulated genes in the M– phenotype encoded contractile proteins (23.5%) and sarcomeric structural/cytoskeletal proteins (14.7%). In contrast, the most highly represented up-regulated transcripts in the M–phenotype were energy metabolism (26.7%) and immune-related (20.0%) genes. The latter were mostly involved in cell–cell interactions and cytokine pathways and included β-2-microglobulin precursor (b2m), an orthologue of complement component 4, invariant chain-like protein 1(iclp), CD9 antigen-like (cd9l), and tyrosine kinase,non-receptor (tnk2). Five myosin heavy chain genes that were down-regulated in the M– phenotype formed part of a tandem repeat on chromosome 5 and were shown by in situ hybridisation to be specifically expressed in nascent myofibres. Seven up-regulated miRNAs in the M– phenotype showed reciprocal expression with seven mRNA targets identified in miRBase Targets version 5(http://microrna.sanger.ac.uk/targets/v5/),including asporin (aspn) which was the target for four miRNAs. Eleven down-regulated miRNAs in the M– phenotype had predicted targets for seven up-regulated genes, including dre-miR-181c which had five predicted mRNA targets. These results provide evidence that miRNAs play a role in regulating the transition from the M+ to the M–phenotype and identify some of the genes and regulatory interactions involved.