bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Value of Supplemental Prognostic Tests for the Preoperative Assessment of Idiopathic Normal-pressure Hydrocephalus
Authors: Marmarou Anthony , Bergsneider Marvin , Klinge Petra , Relkin Norman , Black Peter McL. 
Published: September 2005

Abstract

OBJECTIVE:
The diagnosis and management of idiopathic normal-pressure hydrocephalus (INPH) remains unclear. Moreover, the value of supplementary tests to predict which patients would benefit from placement of a shunt has not been established. This report develops evidence-based guidelines for the use of supplementary tests as an aid in prognosis.

METHODS:
MEDLINE searches from 1966 to the present were undertaken by use of the query NPH, normal-pressure hydrocephalus, lumbar drain, CSF [cerebrospinal fluid] tap test, and external CSF drainage in humans. This resulted in 242 articles. To provide a scientific, evidence-based review, we have chosen to restrict our analysis to clinically relevant studies usually consisting of large numbers of shunted NPH patients. Studies that did not specify INPH or secondary NPH were considered in a separate evidentiary table.

RESULTS:
Evidence-based guidelines for use in supplementary tests have been developed. A positive response to a 40- to 50-ml tap test has a higher degree of certainty for a favorable response to shunt placement than can be obtained by clinical examination. However, the tap test cannot be used as an exclusionary test because of its low sensitivity (26–61%). Determination of the CSF outflow resistance via an infusion test carries a higher sensitivity (57–100%) compared with the tap test and a similar positive predictive value of 75 to 92%. Prolonged external lumbar drainage in excess of 300 ml is associated with high sensitivity (50–100%) and high positive predictive value (80–100%).

CONCLUSION:
To date, a single standard for the prognostic evaluation of INPH patients is lacking. However, supplemental tests can increase predictive accuracy for prognosis to greater than 90%. Additional multicenter prospective randomized clinical trials are needed.
Paradoxical Cerebral Herniation Secondary to Lumbar Puncture after Decompressive Craniectomy for a Large Space-occupying Hemispheric Stroke: Case Report
Authors: Oyelese Adetokunbo A. , Steinberg Gary K. , Huhn Stephen L. , Wijman Christine A.C. 
Published: September 2005

ABSTRACT

OBJECTIVE AND IMPORTANCE:
The risk of transtentorial herniation after removal of cerebrospinal fluid from the lumbar cistern in the setting of a supratentorial lesion with significant mass effect, increased cerebrospinal fluid pressure, or midline shift is well known. We report a case of cerebral herniation from intracranial hypotension (so-called paradoxical herniation) secondary to a lumbar puncture 1 month after decompressive hemicraniectomy for a large right hemispheric stroke.

CLINICAL PRESENTATION:
A 50-year-old woman was transferred to our neurosurgical service for obtundation 4 days after a lumbar puncture to rule out meningitis and 1 month after decompressive craniectomy for a large right hemispheric stroke.

INTERVENTION:
Eighty grams of mannitol was administered before transfer. On arrival at our hospital, the patient was intubated and a computed tomographic scan was performed. The patient was diagnosed with low-pressure herniation after review of the computed tomographic scan. Rehydration was initiated, and the patient was placed in the Trendelenburg position. She became easier to arouse, but her pupils remained dilated. She experienced a sudden severe cardiac arrhythmia leading to a cardiac arrest. Attempted resuscitation was unsuccessful, and the patient was pronounced dead.

CONCLUSION:
Lumbar punctures may result in lethal intracranial hypotension in patients after hemicraniectomy and are thus contraindicated unless care is taken to remove the pressure gradient of atmospheric air across the lumbar cistern.
External Rotation as a Result of Suprascapular Nerve Neurotization in Obstetric Brachial Plexus Lesions
Authors: Pondaag Willem , de Boer Ralph , van Wijlen-Hempel Marie S. , Hofstede-Buitenhuis Sonja M. , Malessy Martijn J.A. 
Published: September 2005

ABSTRACTOBJECTIVE:Obstetric brachial plexus lesions may cause lifelong limitations of upper limb function. Nerve repair is widely advocated in infants who do not show spontaneous recovery. Typically, the suprascapular nerve (SSN) is involved in the lesion. Neurotization of the SSN routinely is performed, aiming at reinnervation of the infraspinatus muscle to restore external rotation. The results after SSN neurotization have not, as yet, been studied in detail; therefore, this study was undertaken. Of special interest was the comparison of two commonly applied SSN neurotization procedures: nerve grafting from C5 versus nerve transfer of the accessory nerve.METHODS:Infants with obstetric brachial plexus lesions after nerve grafting of C5 to the SSN (n = 65) or nerve transfer of the accessory nerve to the SSN (n = 21) were selected for retrospective analysis after a mean follow-up period of 3 years. Outcome was expressed in degrees of true glenohumeral external rotation. This was defined as the angle between the position of the 90 degrees (actively or passively) flexed elbow resting against the abdomen and the position of the flexed elbow after external rotation with the upper arm held in adduction by the investigator. This movement can be executed only by infraspinatus muscle contraction. In addition, functional external rotation was evaluated by testing the ability to reach the mouth and the back of the head.RESULTS:Only 17 (20%) of the 86 patients reached more than 20 degrees of external rotation, whereas 35 (41%) were unable to perform true external rotation. There was no statistically significant difference between nerve grafting from C5 and extraplexal nerve transfer using the accessory nerve. Functional scores showed that 88% can reach the mouth and that 75% can reach the head.CONCLUSION:The restoration of a fair range of true glenohumeral external rotation after neurotization of the SSN in infants with obstetric brachial plexus lesions, whether by grafting from C5 or by nerve transfer of the accessory nerve, is disappointingly low. However, it seems that compensatory techniques contribute to effectuate a considerable range of movement.
Cost-effectiveness of Intraoperative Imaging in Carotid Endarterectomy
Authors: Burnett Mark G. , Stein Sherman C. , Sonnad Seema S. , Zager Eric L. 
Published: September 2005

ABSTRACTOBJECTIVE:There has never been a large, randomized controlled trial to assess the impact of intraoperative imaging on the success of carotid endarterectomy (CEA). This comparison involves cost-effectiveness analysis.METHODS:We constructed a decision-analytic model to compare effectiveness and costs of intraoperative ultrasound (IUS) and completion angiography as adjuncts to CEA. Data on procedural mortality, morbidity, and costs were obtained from the English-language literature. The review included a total of 52 reports, encompassing more than 22,000 patients. The main components of costs were those of the monitoring interventions and the care of perioperative stroke.RESULTS:Mean perioperative outcome without completion imaging is approximately 96.7% of what it would be in the absence of perioperative stroke or death. IUS and completion angiography each result in approximately 2% improvement in expected outcome. Mean perioperative costs are $396.50 for IUS, $721.30 for no monitoring, and $840.90 for completion angiography. Because IUS is significantly more effective at detecting technical errors that would likely result in perioperative stroke than no imaging and is significantly less costly than angiography, this strategy dominates the other two (i.e., it provides greater effectiveness at lower cost).CONCLUSION:Although surgical complications are uncommon, IUS substantially lowers the rate of perioperative stroke and mortality and thus is significantly more cost-effective than either completion angiography or no operative imaging.
Tumoral Calcinosis of the Filum Terminale
Authors: Sharma M , Sinha R , Hussey K , Fouyas I P. 
Published: September 2005

ABSTRACT

OBJECTIVE AND IMPORTANCE:
Tumoral calcinosis is a rare disorder presenting with tumor-like masses of calcification, usually in soft tissues around large joints. Although this condition has been reported in the spine, this is the first reported instance of this uncommon lesion occurring in the intradural compartment, involving the filum terminale.

CLINICAL PRESENTATION:
A 55-year-old man presented with back and right leg pain. Initial investigations revealed no cause. A review of his original magnetic resonance imaging scans revealed an intradural calcified mass at L3 level. Surgical exploration was undertaken.

INTERVENTION:
A L3 laminectomy revealed a calcified mass adherent to the filum terminale. Frozen section from this mass revealed tumoral calcinosis involving the filum terminale.

CONCLUSION:
This is the first known case of intradural involvement by tumoral calcinosis. This is an uncommon disorder, and a high index of suspicion is required to diagnose the condition, which can recur if incompletely removed.
Men who have sex with men who are born abroad and diagnosed with HIV in England and Wales: an epidemiological perspective
Authors: Dougan S , Elford J , Sinka K , Fenton K A , Evans B G 
Published: September 2005

Relatively little is known about the sexual health needs of men who have sex with men (MSM) born abroad who reside in the UK. We describe here the epidemiology of HIV among MSM born outside the UK and diagnosed with HIV in England and Wales. Reports of HIV diagnoses in England and Wales received at the Health Protection Agency Centre for Infections were analysed. Between 2000 and 2003, 6386 MSM were diagnosed with HIV in England and Wales. Country of birth was recorded for 3571 (56%). Of those with country of birth reported, 2598 (73%) were born in the UK and 973 (27%) abroad. Of those born abroad (973), 424 (44%) were born in Europe, 141 (15%) in Africa, 104 (11%) in South/Central America and the remainder in other regions. Where reported (949), 69% of MSM born abroad were White, 12% other/mixed, 9% Black Caribbean and 7% Black African. Probable country of infection was reported for 612 MSM born abroad: 52% were infected in the UK, 43% in their region of birth and 5% in another region. Men born abroad represent a significant proportion of HIV diagnoses among MSM in England and Wales. More than half probably acquired their HIV infection in the UK, strengthening the call for targeted HIV prevention and sexual health promotion among MSM who are not born in England and Wales.
Circulating Peptide YY Concentrations Are Higher in Preterm than Full-Term Infants and Correlate Negatively with Body Weight and Positively with Serum Ghrelin Concentrations
Authors: Siahanidou Tania , Mandyla Helen , Vounatsou Maria , Anagnostakis Dimitris , Papassotiriou Ioannis , Chrousos George P 
Published: September 2005

Abstract
Background: Peptide YY (PYY) and ghrelin are gastrointestinal tract–derived hormones that play roles in the regulation of food intake and energy balance. Negative energy balance often occurs in hospitalized preterm infants.
Methods: To measure serum concentrations of PYY in preterm and full-term infants and to investigate their correlations with anthropometric characteristics, food intake, and serum ghrelin concentrations, we measured serum PYY and ghrelin concentrations by RIA in 62 healthy preterm infants [mean (SD) gestational age, 32.0 (2.1) weeks; postnatal age, 40.9 (14.8) days] and 15 healthy full-term infants of comparable postnatal age. All of the infants were formula-fed every 3 h.
Results: PYY concentrations were significantly higher in preterm [1126.2 (215.4) ng/L] than in full-term infants [825.3 (234.4) ng/L; P &lt;0.001]. In the entire study population, serum PYY concentrations correlated negatively with gestational age and anthropometric measurements (birth weight, body weight, body length, body mass index, and head circumference) and positively with serum ghrelin concentrations, whereas there was no significant correlation between PYY concentration and caloric intake or weight gain. Multiple regression analysis, after correction for prematurity, revealed that serum PYY concentrations correlated independently with serum ghrelin concentrations and infant body weight or body mass index.
Conclusions: Circulating concentrations of PYY may increase in preterm infants to compensate for the negative body-weight balance. The physiologic mechanisms behind the correlation between PYY and ghrelin remain to be elucidated.
Decreased Asialotransferrin in Cerebrospinal Fluid of Patients with Childhood-Onset Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease
Authors: Vanderver Adeline , Schiffmann Raphael , Timmons Margaret , Kellersberger Katherine A , Fabris Dan , Hoffman Eric P , Maletkovic Jelena , Hathout Yetrib 
Published: September 2005

Abstract
Background: A biomarker for the diagnosis of childhood-onset ataxia and central nervous system hypomyelination (CACH)/vanishing white matter disease (VWM) would have clinical utility and pathophysiologic significance.
Methods: We used 2-dimensional gel electrophoresis/mass spectrometry to compare the cerebrospinal fluid proteome of patients with mutation-confirmed CACH/VWM with that of unaffected controls. We characterized selected spots by in-gel digestion, matrix-assisted laser desorption/ionization time-of-flight tandem mass spectrometry, and nanospray Fourier transform mass spectrometry.
Results: A specific transferrin spot pattern was detected in the CSF samples of the CACH/VWM group (n = 7), distinguishing them from the control group (n = 23) and revealing that patients with CACH/VWM have a deficiency of the asialo form of transferrin usually present in healthy cerebrospinal fluid. The glycopeptide structure, determined from isolated transferrin spots by use of in-gel digestion and extraction, was found to be consistent with earlier reports.
Conclusions: The transferrin isoform abnormality in the cerebrospinal fluid of patients with CACH/VWM appears unique and is a potential clinical diagnostic biomarker. The rapid, efficient diagnosis of this disorder would have a significant impact on clinical studies exploring new strategies for the management and treatment of this disease.
Chromosome-Wise Dissection of the Genome of the Extremely Big Mouse Line DU6i
Authors: Bevova Marianna R , Aulchenko Yurii S , Aksu Soner , Renne Ulla , Brockmann Gudrun A 
Published: September 2005

Abstract
The extreme high-body-weight-selected mouse line DU6i is a polygenic model for growth research, harboring many small-effect QTL. We dissected the genome of this line into 19 autosomes and the Y chromosome by the construction of a new panel of chromosome substitution strains (CSS). The DU6i chromosomes were transferred to a DBA/2 mice genetic background by marker-assisted recurrent backcrossing. Mitochondria and the X chromosome were of DBA/2 origin in the backcross. During the construction of these novel strains, &gt;4000 animals were generated, phenotyped, and genotyped. Using these data, we studied the genetic control of variation in body weight and weight gain at 21, 42, and 63 days. The unique data set facilitated the analysis of chromosomal interaction with sex and parent-of-origin effects. All analyzed chromosomes affected body weight and weight gain either directly or in interaction with sex or parent of origin. The effects were age specific, with some chromosomes showing opposite effects at different stages of development.
Equilibrium Processes Cannot Explain High Levels of Short- and Medium-Range Linkage Disequilibrium in the Domesticated Grass Sorghum bicolor
Authors: Hamblin Martha T , Salas Fernandez Maria G , Casa Alexandra M , Mitchell Sharon E , Paterson Andrew H , Kresovich Stephen 
Published: September 2005

Abstract
Patterns of linkage disequilibrium (LD) are of interest because they provide evidence of both equilibrium (e.g., mating system or long-term population structure) and nonequilibrium (e.g., demographic or selective) processes, as well as because of their importance in strategies for identifying the genetic basis of complex phenotypes. We report patterns of short and medium range (up to100 kb) LD in six unlinked genomic regions in the partially selfing domesticated grass, Sorghum bicolor. The extent of allelic associations in S. bicolor, as assessed by pairwise measures of LD, is higher than in maize but lower than in Arabidopsis, in qualitative agreement with expectations based on mating system. Quantitative analyses of the population recombination parameter, ρ, however, based on empirical estimates of rates of recombination, mutation, and self-pollination, show that LD is more extensive than expected under a neutral equilibrium model. The disparity between ρ and the population mutation parameter, θ, is similar to that observed in other species whose population history appears to be complex. From a practical standpoint, these results suggest that S. bicolor is well suited for association studies using reasonable numbers of markers, since LD typically extends at least several kilobases but has largely decayed by 15 kb.
Epistasis for Fitness-Related Quantitative Traits in Arabidopsis thaliana Grown in the Field and in the Greenhouse
Authors: Malmberg Russell L , Held Stephanie , Waits Ashleigh , Mauricio Rodney 
Published: September 2005

Abstract
The extent to which epistasis contributes to adaptation, population differentiation, and speciation is a long-standing and important problem in evolutionary genetics. Using recombinant inbred (RI) lines of Arabidopsis thaliana grown under natural field conditions, we have examined the genetic architecture of fitness-correlated traits with respect to epistasis; we identified both single-locus additive and two-locus epistatic QTL for natural variation in fruit number, germination, and seed length and width. For fruit number, we found seven significant epistatic interactions, but only two additive QTL. For seed germination, length, and width, there were from two to four additive QTL and from five to eight epistatic interactions. The epistatic interactions were both positive and negative. In each case, the magnitude of the epistatic effects was roughly double that of the effects of the additive QTL, varying from −41% to +29% for fruit number and from −5% to +4% for seed germination, length, and width. A number of the QTL that we describe participate in more than one epistatic interaction, and some loci identified as additive also may participate in an epistatic interaction; the genetic architecture for fitness traits may be a network of additive and epistatic effects. We compared the map positions of the additive and epistatic QTL for germination, seed width, and seed length from plants grown in both the field and the greenhouse. While the total number of significant additive and epistatic QTL was similar under the two growth conditions, the map locations were largely different. We found a small number of significant epistatic QTL × environment effects when we tested directly for them. Our results support the idea that epistatic interactions are an important part of natural genetic variation and reinforce the need for caution in comparing results from greenhouse-grown and field-grown plants.
Diverse Functions of Spindle Assembly Checkpoint Genes in Saccharomyces cerevisiae
Authors: Daniel Jewel A , Keyes Brice E , Ng Yvonne P Y , Freeman C Onyi , Burke Daniel J 
Published: September 2005

Abstract
The spindle assembly checkpoint regulates the metaphase-to-anaphase transition from yeast to humans. We examined the genetic interactions with four spindle assembly checkpoint genes to identify nonessential genes involved in chromosome segregation, to identify the individual roles of the spindle assembly checkpoint genes within the checkpoint, and to reveal potential complexity that may exist. We used synthetic genetic array (SGA) analysis using spindle assembly checkpoint mutants mad1, mad2, mad3, and bub3. We found 228 synthetic interactions with the four spindle assembly checkpoint mutants with substantial overlap in the spectrum of interactions between mad1, mad2, and bub3. In contrast, there were many synthetic interactions that were common to mad1, mad2, and bub3 that were not shared by mad3. We found shared interactions between pairs of spindle assembly checkpoint mutants, suggesting additional complexity within the checkpoint and unique interactions for all of the spindle assembly checkpoint genes. We show that most genes in the interaction network, including ones with unique interactions, affect chromosome transmission or microtubule function, suggesting that the complexity of interactions reflects diverse roles for the checkpoint genes within the checkpoint. Our analysis expands our understanding of the spindle assembly checkpoint and identifies new candidate genes with possible roles in chromosome transmission and mitotic spindle function.
GC-Biased Segregation of Noncoding Polymorphisms in Drosophila
Authors: Galtier Nicolas , Bazin Eric , Bierne Nicolas 
Published: September 2005

AbstractThe study of base composition evolution in Drosophila has been achieved mostly through the analysis of coding sequences. Third codon position GC content, however, is influenced by both neutral forces (e.g., mutation bias) and natural selection for codon usage optimization. In this article, large data sets of noncoding DNA sequence polymorphism in D. melanogaster and D. simulans were gathered from public databases to try to disentangle these two factors—noncoding sequences are not affected by selection for codon usage. Allele frequency analyses revealed an asymmetric pattern of AT vs. GC noncoding polymorphisms: AT → GC mutations are less numerous, and tend to segregate at a higher frequency, than GC → AT ones, especially at GC-rich loci. This is indicative of nonstationary evolution of base composition and/or of GC-biased allele transmission. Fitting population genetics models to the allele frequency spectra confirmed this result and favored the hypothesis of a biased transmission. These results, together with previous reports, suggest that GC-biased gene conversion has influenced base composition evolution in Drosophila and explain the correlation between intron and exon GC content.
The Evolution of Mutation Rate in Finite Asexual Populations
Authors: André Jean-Baptiste , Godelle Bernard 
Published: September 2005

Abstract
In this article, we model analytically the evolution of mutation rate in asexual organisms. Three selective forces are present. First, everything else being equal, individuals with higher mutation rate have a larger fitness, thanks to the energy and time saved by not replicating DNA accurately. Second, as a flip side, the genome of these individuals is replicated with errors that may negatively affect fitness. Third, and conversely, replication errors have a potential benefit if beneficial mutations are to be generated. Our model describes the fate of modifiers of mutation rate under the three forces and allows us to predict the long-term evolutionary trajectory of mutation rate. We obtain three major results. First, in asexuals, the needs for both adaptation and genome preservation are not evolutionary forces that can stabilize mutation rate at an intermediate optimum. When adaptation has a significant role, it primarily destabilizes mutation rate and yields the emergence of strong-effect mutators. Second, in contrast to what is usually believed, the appearance of modifiers with large mutation rate is more likely when the fitness cost of each deleterious mutation is weak, because the cost of replication errors is then paid after a delay. Third, in small populations, and even if adaptations are needed, mutation rate is always blocked at the minimum attainable level, because the rate of adaptation is too slow to play a significant role. Only populations whose size is above a critical mass see their mutation rate affected by the need for adaptation.