bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pitch discrimination and melodic memory in children with autism spectrum disorders
Authors: Stanutz Sandy , Wapnick Joel , Burack Jacob A 
Published: November 2012

Background: Pitch perception is enhanced among persons with autism. We extended this finding to memory for pitch and melody among school-aged children. Objective: The purpose of this study was to investigate pitch memory in musically untrained children with autism spectrum disorders, aged 7–13 years, and to compare it to that of age- and IQ-matched typically developing children. Methods: The children were required to discriminate isolated tones in two differing contexts as well to remember melodies after a period of 1 week. The tasks were designed to employ both short- and long-term memory for music. For the pitch discrimination task, the children first had to indicate whether two isolated tones were the same or different when the second was the same or had been altered to be 25, 35, or 45 cents sharp or flat. Second, the children discriminated the tones within the context of melody. They were asked whether two melodies were the same or different when the leading tone of the second melody was the same or had been altered to be 25, 35, or 45 cents sharp or flat. Long-term memory for melody was also investigated, as the children attempted to recall four different two-bar melodies after 1 week. Results: The children with autism spectrum disorders demonstrated elevated pitch discrimination ability in the single-tone and melodic context as well as superior long-term memory for melody. Pitch memory correlated positively with scores on measures of nonverbal fluid reasoning ability. Conclusion: Superior short- and long-term pitch memory was found among children with autism spectrum disorders. The results indicate an aspect to cognitive functioning that may predict both enhanced nonverbal reasoning ability and atypical language development.
Volitional pursed lips breathing in patients with stable chronic obstructive pulmonary disease improves exercise capacity
Authors: Bhatt Surya P. , Luqman-Arafath T.K. , Gupta Arun K. , Mohan Anant , Stoltzfus Jill C. , Dey Tanujit , Nanda Sudip , Guleria Randeep 
Published: November 2012

Pursed lips breathing (PLB) is used by a proportion of patients with chronic obstructive pulmonary disease (COPD) to alleviate dyspnea. It is also commonly used in pulmonary rehabilitation. Data to support its use in patients who do not spontaneously adopt PLB are limited. We performed this study to assess the acute effects of PLB on exercise capacity in nonspontaneously PLB patients with stable COPD. We performed a randomized crossover study comparing 6-min walk test (6MWT) at baseline without PLB with 6WMT using volitional PLB. Spirometry, maximal inspiratory and expiratory mouth pressures, and diaphragmatic excursion during tidal and vital capacity breathing using B-mode ultrasonography were measured at baseline and after 10 min of PLB. A Visual Analog Scale (VAS) assessed subjective breathlessness at rest, after 6MWT and after 6MWT with PLB. p ≤ 0.01 was considered significant. Mean ± SD age of patients was 53.1 ± 7.4 years. Forced expiratory volume in 1second was 1.1 ± 0.4 L/min (38.4 ± 13.2% predicted). Compared with spontaneous breathing, all but one patient with PLB showed a significant increment in 6MW distance (+34.9 ± 26.4 m; p = 0.002). There was a significant reduction in respiratory rate post 6MWT with PLB compared with spontaneous breathing (−4.4 ± 2.8 per minute; p = 0.003). There was no difference in VAS scores. There was a significant correlation between improvement in 6MWT distance and increase in diaphragmatic excursion during forced breathing. The improvement was greater in patients who had poorer baseline exercise performance. PLB has an acute benefit on exercise capacity. Sustained PLB or short bursts of PLB may improve exercise capacity in stable COPD.
Factors associated with early adherence to tiotropium in chronic obstructive pulmonary disease
Authors: Laforest Laurent , Licaj Idlir , Devouassoux Gilles , Hartwig Susanne , Marvalin Serge , Van Ganse Eric 
Published: November 2012

Tiotropium is an innovative intervention in chronic obstructive pulmonary disease (COPD). Early adherence to tiotropium remains inadequately explored, notably time from initiation to discontinuation (persistence). In patients with COPD, the factors associated with the risk of discontinuing the treatment with tiotropium within 12 months following initiation were identified (12-month persistence). Claim databases from the French Social Security were used. A random sample of patients (aged 50–80 years) who initiated tiotropium soon after launch was selected. Factors associated with the persistence were investigated (Log-rank test and multivariate Cox model). Of the 1147 newly treated patients (mean age 68 years, 33% women), 64% remained in the treatment of tiotropium for over a period of 12 months following initiation. More than 10% of the patients interrupted therapy after a single dispensing, most often those with mild COPD. Lower risks of discontinuing tiotropium within 12 months following initiation were observed when it was initiated by a private sector specialist (hazard ratio (HR) = 0.65, 95% confidence interval (CI) = (0.52–0.82)), by hospital-based physician (HR = 0.58, 95% CI = (0.42–0.78)), when ≥ 2 other respiratory drugs were associated (HR = 0.74, 95% CI = (0.58–0.95)) and in case of long-term disease status (HR = 0.78, 95% CI = (0.63–0.97)). Conversely, no clear effect appeared according to age or gender. In this population of patients with COPD, fewer early discontinuations of tiotropium were observed in patients having a severe condition.
Preliminary Experience With Option Inferior Vena Cava Filter
Authors: Iqbal Shams I. , Elmi Azadeh , Hedgire Sandeep , Yeddula Kalpana , Ganguli Suvranu , Walker T. Gregory , Salazar Gloria M. , Wicky Stephan , Kalva Sanjeeva P. 
Published: November 2012

Objectives: To evaluate the safety and efficacy of Option inferior vena cava (IVC) filter during placement and short-term follow-up. Methods: A total of 165 patients (mean age: 60-years) who received Option IVC filter from June 2009 to July 2011 were included. In all, 42 patients presented with deep vein thrombosis (DVT), 26 with pulmonary embolism (PE), and 17 with both. All outcomes were examined until April 30, 2012. Results: The filters were successfully deployed in 161patients. During follow-up (mean, 9.5 ± 0.68months), 10 patients were diagnosed with post-filter PE and 13 patients with DVT. There were no instances of fatal PE. Follow-up abdominal computed tomography was available in 60 patients and demonstrated filter-related problems in 8 patients (2: penetration of filter legs, 5: asymptomatic nonocclusive thrombus, and 1: caval occlusion). There were no instances of filter migration or fracture. In total, 27 filters were successfully retrieved after a mean of 5.27 ± 0.76 months. Conclusion: The Option filter was effective and safe during implantation and short-term follow-up and associated with high technical success at retrieval.
Comparative mapping in intraspecific populations uncovers a high degree of macrosynteny between A- and B-genome diploid species of peanut
Authors: Guo Yufang , Khanal Sameer , Tang Shunxue , Bowers John E , Heesacker Adam F , Khalilian Nelly , Nagy Ervin D , Zhang Dong , Taylor Christopher A , Stalker H Thomas , Ozias-Akins Peggy , Knapp Steven J 
Published: November 2012

AbstractBackgroundCultivated peanut or groundnut (Arachis hypogaeaL.) is an important oilseed crop with an allotetraploid genome (AABB, 2n = 4x = 40). Both the low level of genetic variation within the cultivated gene pool and its polyploid nature limit the utilization of molecular markers to explore genome structure and facilitate genetic improvement. Nevertheless, a wealth of genetic diversity exists in diploidArachisspecies (2n = 2x = 20), which represent a valuable gene pool for cultivated peanut improvement. Interspecific populations have been used widely for genetic mapping in diploid species ofArachis. However, an intraspecific mapping strategy was essential to detect chromosomal rearrangements among species that could be obscured by mapping in interspecific populations. To develop intraspecific reference linkage maps and gain insights into karyotypic evolution within the genus, we comparatively mapped the A- and B-genome diploid species using intraspecific F2populations. Exploring genome organization among diploid peanut species by comparative mapping will enhance our understanding of the cultivated tetraploid peanut genome. Moreover, new sources of molecular markers that are highly transferable between species and developed from expressed genes will be required to construct saturated genetic maps for peanut.ResultsA total of 2,138 EST-SSR (expressed sequence tag-simple sequence repeat) markers were developed by mining a tetraploid peanut EST assembly including 101,132 unigenes (37,916 contigs and 63,216 singletons) derived from 70,771 long-read (Sanger) and 270,957 short-read (454) sequences. A set of 97 SSR markers were also developed by mining 9,517 genomic survey sequences ofArachis. An SSR-based intraspecific linkage map was constructed using an F2population derived from a cross between K 9484 (PI 298639) and GKBSPSc 30081 (PI 468327) in the B-genome speciesA.batizocoi. A high degree of macrosynteny was observed when comparing the homoeologous linkage groups between A (A.duranensis) and B (A.batizocoi) genomes. Comparison of the A- and B-genome genetic linkage maps also showed a total of five inversions and one major reciprocal translocation between two pairs of chromosomes under our current mapping resolution.ConclusionsOur findings will contribute to understanding tetraploid peanut genome origin and evolution and eventually promote its genetic improvement. The newly developed EST-SSR markers will enrich current molecular marker resources in peanut.
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death
Authors: Teirlinck Carolien H , Senni Faïza , Malti Rajae El , Majoor-Krakauer Danielle , Fellmann Florence , Millat Gilles , André-Fouët Xavier , Pernot François , Stumpf Michaël , Boutarin Jean , Bouvagnet Patrice 
Published: November 2012

Abstract

Background
Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous disease. One specific mutation in the MYBPC3 gene is highly prevalent in center east of France giving an opportunity to define the clinical profile of this specific mutation.

Methods
HCM probands were screened for mutation in the MYH7, MYBPC3, TNNT2 and TNNI3 genes. Carriers of the MYBPC3 IVS20-2A>G mutation were genotyped with 8 microsatellites flanking this gene. The age of this MYBPC3 mutation was inferred with the software ESTIAGE. The age at first symptom, diagnosis, first complication, first severe complication and the rate of sudden death were compared between carriers of the IVS20-2 mutation (group A) and carriers of all other mutations (group B) using time to event curves and log rank test.

Results
Out of 107 HCM probands, 45 had a single heterozygous mutation in one of the 4 tested sarcomeric genes including 9 patients with the MYBPC3 IVS20-2A>G mutation. The IVS20-2 mutation in these 9 patients and their 25 mutation carrier relatives was embedded in a common haplotype defined after genotyping 4 polymorphic markers on each side of the MYBPC3 gene. This result supports the hypothesis of a common ancestor. Furthermore, we evaluated that the mutation occurred about 47 generations ago, approximately at the 10th century.
We then compared the clinical profile of the IVS20-2 mutation carriers (group A) and the carriers of all other mutations (group B). Age at onset of symptoms was similar in the 34 group A cases and the 73 group B cases but group A cases were diagnosed on average 15 years later (log rank test p = 0.022). Age of first complication and first severe complication was delayed in group A vs group B cases but the prevalence of sudden death and age at death was similar in both groups.

Conclusion
A founder mutation arising at about the 10th century in the MYBPC3 gene accounts for 8.4% of all HCM in center east France and results in a cardiomyopathy starting late and evolving slowly but with an apparent risk of sudden death similar to other sarcomeric mutations.
Effects of cardiovascular exercise early after stroke: systematic review and meta-analysis
Authors: Stoller Oliver , de Bruin Eling D , Knols Ruud H , Hunt Kenneth J 
Published: November 2012

Abstract

Background
Previous studies have shown the beneficial effects of aerobic exercise in chronic stroke. Most motor and functional recovery occurs in the first months after stroke. Improving cardiovascular capacity may have potential to precipitate recovery during early stroke rehabilitation. Currently, little is known about the effects of early cardiovascular exercise in stroke survivors. The aim of this systematic review was to evaluate the effectiveness of cardiovascular exercise early after stroke.

Methods
A systematic literature search was performed. For this review, randomized and non-randomized prospective controlled cohort studies using a cardiovascular, cardiopulmonary or aerobic training intervention starting within 6 months post stroke were considered. The PEDro scale was used to detect risk of bias in individual studies. Inter-rater agreement was calculated (kappa). Meta-analysis was performed using a random-effects model.

Results
A total of 11 trials were identified for inclusion. Inter-rater agreement was considered to be “very good” (Kappa: 0.81, Standard Error: 0.06, CI95%: 0.70–0.92), and the methodological quality was “good” (7 studies) to “fair” (4 studies). Peak oxygen uptake data were available for 155 participants. Pooled analysis yielded homogenous effects favouring the intervention group (standardised mean difference (SMD) = 0.83, CI95% = 0.50–1.16, Z = 4.93, P < 0.01). Walking endurance assessed with the 6 Minute Walk Test comprised 278 participants. Pooled analysis revealed homogenous effects favouring the cardiovascular training intervention group (SMD = 0.69, CI95% = 0.45–0.94, Z = 5.58, P < 0.01). Gait speed, measured in 243 participants, did not show significant results (SMD = 0.51, CI95% = −0.25–1.26, Z = 1.31, P = 0.19) in favour of early cardiovascular exercise.

Conclusion
This meta-analysis shows that stroke survivors may benefit from cardiovascular exercise during sub-acute stages to improve peak oxygen uptake and walking distance. Thus, cardiovascular exercise should be considered in sub-acute stroke rehabilitation. However, concepts to influence and evaluate aerobic capacity in severely affected individuals with sub-acute stroke, as well as in the very early period after stroke, are lacking.
Further research is needed to develop appropriate methods for cardiovascular rehabilitation early after stroke and to evaluate long-term effects of cardiovascular exercise on aerobic capacity, physical functioning, and quality-of-life.
Evaluating patient values and preferences for thromboprophylaxis decision making during pregnancy: a study protocol
Authors: Alonso-Coello Pablo , Ebrahim Shanil , Guyatt Gordon H , Tikkinen Kari AO , Eckman Mark H , Neumann Ignacio , McDonald Sarah D , Akl Elie A , Bates Shannon M 
Published: November 2012

Abstract

Background
Pregnant women with prior venous thromboembolism (VTE) are at risk of recurrence. Low molecular weight heparin (LWMH) reduces the risk of pregnancy-related VTE. LMWH prophylaxis is, however, inconvenient, uncomfortable, costly, medicalizes pregnancy, and may be associated with increased risks of obstetrical bleeding. Further, there is uncertainty in the estimates of both the baseline risk of pregnancy-related recurrent VTE and the effects of antepartum LMWH prophylaxis. The values and treatment preferences of pregnant women, crucial when making recommendations for prophylaxis, are currently unknown. The objective of this study is to address this gap in knowledge.

Methods
We will perform a multi-center cross-sectional interview study in Canada, USA, Norway and Finland. The study population will consist of 100 women with a history of lower extremity deep vein thrombosis (DVT) or pulmonary embolism (PE), and who are either pregnant, planning pregnancy, or may in the future consider pregnancy (women between 18 and 45 years). We will exclude individuals who are on full dose anticoagulation or thromboprophylaxis, who have undergone surgical sterilization, or whose partners have undergone vasectomy. We will determine each participant's willingness to receive LMWH prophylaxis during pregnancy through direct choice exercises based on real life and hypothetical scenarios, preference-elicitation using a visual analog scale (“feeling thermometer”), and a probability trade-off exercise. The primary outcome will be the minimum reduction (threshold) in VTE risk at which women change from declining to accepting LMWH prophylaxis. We will explore possible determinants of this choice, including educational attainment, the characteristics of the women’s prior VTE, and prior experience with LMWH. We will determine the utilities that women place on the burden of LMWH prophylaxis, pregnancy-related DVT, pregnancy-related PE and pregnancy-related hemorrhage. We will generate a “personalized decision analysis” using participants’ utilities and their personalized risk of recurrent VTE as inputs to a decision analytic model. We will compare the personalized decision analysis to the participant’s stated choice.

Discussion
The preferences of pregnant women at risk of VTE with respect to the use of antithrombotic therapy remain unexplored. This research will provide explicit, quantitative expressions of women's valuations of health states related to recurrent VTE and its prevention with LMWH. This information will be crucial for both guideline developers and for clinicians.
Treatment actions and treatment failure: case studies in the response to severe childhood febrile illness in Mali
Authors: Ellis Amy A , Traore Sidy , Doumbia Seydou , Dalglish Sarah L , Winch Peter J 
Published: November 2012

Abstract

Background
Appropriate home management of illness is vital to efforts to control malaria. The strategy of home management relies on caregivers to recognize malaria symptoms, assess severity and promptly seek appropriate care at a health facility if necessary. This paper examines the management of severe febrile illness (presumed malaria) among children under the age of five in rural Koulikoro Region, Mali.

Methods
This research examines in-depth case studies of twenty-five households in which a child recently experienced a severe febrile illness, as well as key informant interviews and focus group discussions with community members. These techniques were used to explore the sequence of treatment steps taken during a severe illness episode and the context in which decisions were made pertaining to pursing treatments and sources of care, while incorporating the perspective and input of the mother as well as the larger household.

Results
Eighty-one participants were recruited in 25 households meeting inclusion criteria. Children's illness episodes involved multiple treatment steps, with an average of 4.4 treatment steps per episode (range: 2–10). For 76% of children, treatment began in the home, but 80% were treated outside the home as a second recourse. Most families used both traditional and modern treatments, administered either inside the home by family members, or by traditional or modern healers. Participants’ stated preference was for modern care, despite high rates of reported treatment failure (52%, n=12), however, traditional treatments were also often deemed appropriate and effective. The most commonly cited barrier to seeking care at health facilities was cost, especially during the rainy season. Financial constraints often led families to use traditional treatments.

Conclusions
Households have few options available to them in moments of overlapping health and economic crises. Public health research and policy should focus on the reducing barriers that inhibit poor households from promptly seeking appropriate health care. Enhancing the quality of care provided at community health facilities and supporting mechanisms by which treatment failures are quickly identified and addressed can contribute to reducing subsequent treatment delays and avoid inappropriate recourse to traditional treatments.
Stochastic amplitude-modulated stretching of rabbit flexor digitorum profundus tendons reduces stiffness compared to cyclic loading but does not affect tenocyte metabolism
Authors: Steiner Thomas H , Bürki Alexander , Ferguson Stephen J , Gantenbein-Ritter Benjamin 
Published: November 2012

Abstract

Background
It has been demonstrated that frequency modulation of loading influences cellular response and metabolism in 3D tissues such as cartilage, bone and intervertebral disc. However, the mechano-sensitivity of cells in linear tissues such as tendons or ligaments might be more sensitive to changes in strain amplitude than frequency. Here, we hypothesized that tenocytes in situ are mechano-responsive to random amplitude modulation of strain.

Methods
We compared stochastic amplitude-modulated versus sinusoidal cyclic stretching. Rabbit tendon were kept in tissue-culture medium for twelve days and were loaded for 1h/day for six of the total twelve culture days. The tendons were randomly subjected to one of three different loading regimes: i) stochastic (2 – 7% random strain amplitudes), ii) cyclic_RMS (2–4.42% strain) and iii) cyclic_high (2 - 7% strain), all at 1 Hz and for 3,600 cycles, and one unloaded control.

Results
At the end of the culture period, the stiffness of the “stochastic” group was significantly lower than that of the cyclic_RMS and cyclic_high groups (both, p < 0.0001). Gene expression of eleven anabolic, catabolic and inflammatory genes revealed no significant differences between the loading groups.

Conclusions
We conclude that, despite an equivalent metabolic response, stochastically stretched tendons suffer most likely from increased mechanical microdamage, relative to cyclically loaded ones, which is relevant for tendon regeneration therapies in clinical practice.
Human conditions of insulin-like growth factor-I (IGF-I) deficiency
Authors: Puche Juan E , Castilla-Cortázar Inma 
Published: November 2012

AbstractInsulin-like growth factor I (IGF-I) is a polypeptide hormone produced mainly by the liver in response to the endocrine GH stimulus, but it is also secreted by multiple tissues for autocrine/paracrine purposes. IGF-I is partly responsible for systemic GH activities although it possesses a wide number of own properties (anabolic, antioxidant, anti-inflammatory and cytoprotective actions).IGF-I is a closely regulated hormone. Consequently, its logical therapeutical applications seems to be limited to restore physiological circulating levels in order to recover the clinical consequences of IGF-I deficiency, conditions where, despite continuous discrepancies, IGF-I treatment has never been related to oncogenesis. Currently the best characterized conditions of IGF-I deficiency are Laron Syndrome, in children; liver cirrhosis, in adults; aging including age-related-cardiovascular and neurological diseases; and more recently, intrauterine growth restriction.The aim of this review is to summarize the increasing list of roles of IGF-I, both in physiological and pathological conditions, underlying that its potential therapeutical options seem to be limited to those proven states of local or systemic IGF-I deficiency as a replacement treatment, rather than increasing its level upper the normal range.