bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intramuscular Temperature Changes During and After 2 Different Cryotherapy Interventions in Healthy Individuals
Authors: Rupp Kimberly A. , Herman Daniel C. , Hertel Jay , Saliba Susan A. 
Published: April 2012

Study Design Crossover. Objectives To compare the time required to decrease intramuscular temperature 8°C below baseline temperature, and to compare intramuscular temperature 90 minutes posttreatment, between 2 cryotherapy modalities. Background Cryotherapy is used to treat pain from muscle injuries. Cooler intramuscular temperatures may reduce cellular metabolism and secondary hypoxic injury to attenuate acute injury response, specifically the rate of chemical mediator activity. Modalities that decrease intramuscular temperature quickly may be beneficial in the treatment of muscle injuries. Methods Eighteen healthy subjects received 2 cryotherapy conditions, crushed-ice bag (CIB) and cold-water immersion (CWI), in a randomly allocated order, separated by 72 hours. Each condition was applied until intramuscular temperature decreased 8°C below baseline. Intramuscular temperature was monitored in the gastrocnemius, 1 cm below subcutaneous adipose tissue. The primary outcome was time to decrease intramuscular temperature 8°C below baseline. A secondary outcome was intramuscular temperature at the end of a 90-minute rewarming period. Paired t tests were used to examine outcomes. Results Time to reach an 8°C reduction in intramuscular temperature was not significantly different between CIB and CWI (mean difference, 2.6 minutes; 95% confidence interval: −3.10, 8.30). Intramuscular temperature remained significantly colder 90 minutes post-CWI compared to CIB (mean difference, 2.8°C; 95% confidence interval: 2.07°C, 3.52°C). Conclusion There was no difference in time required to reduce intramuscular temperature 8°C 1 cm below adipose tissue using CIB and CWI. However, intramuscular temperature remained significantly colder 90 minutes following CWI. These results provide clinicians with information that may guide treatment-modality decisions. J Orthop Sports Phys Ther 2012;42(8):731–737, Epub 23 March 2012. doi:10.2519/jospt.2012.4200
Roles of climate and functional traits in controlling toothed vs. untoothed leaf margins
Authors: Royer Dana L. , Peppe Daniel J. , Wheeler Elisabeth A. , Niinemets Ülo 
Published: April 2012

• Premise of the study: Leaf‐margin state (toothed vs. untoothed) forms the basis of several popular methods for reconstructing temperature. Some potential confounding factors have not been investigated with large data sets, limiting our understanding of the adaptive significance of leaf teeth and their reliability to reconstruct paleoclimate. Here we test the strength of correlations between leaf‐margin state and deciduousness, leaf thickness, wood type (ring‐porous vs. diffuse‐porous), height within community, and several leaf economic variables.• Methods: We assembled a trait database for 3549 species from six continents based on published and original data. The strength of associations between traits was quantified using correlational and principal axes approaches.• Key results: Toothed species, independent of temperature, are more likely to be deciduous and to have thin leaves, a high leaf nitrogen concentration, a low leaf mass per area, and ring‐porous wood. Canopy trees display the highest sensitivity between leaf‐margin state and temperature; subcanopy plants, especially herbs, are less sensitive.• Conclusions: Our data support hypotheses linking the adaptive significance of teeth to leaf thickness and deciduousness (in addition to temperature). Toothed species associate with the “fast‐return” end of the leaf economic spectrum, providing another functional link to thin leaves and the deciduous habit. Accounting for these confounding factors should improve climate estimates from tooth‐based methods.
CLASSIFICATION OF sEMG SIGNALS USING INTEGRATED NEURAL NETWORK WITH SMALL SIZED TRAINING DATA
Authors: Sun Baofeng , Chen Wanzhong 
Published: April 2012

The sEMG (Surface electromyography) signals detected from activated muscles can be used as a control source for prosthesis. So an efficient and accurate method for the classification of sEMG signal patterns has become a hot research in recent years. Artificial neural network is a popular used method in this field, however, most neural networks require large numbers of samples in the training stage to obtain the potential relationships between input feature vectors and the outputs.In this paper, Integrated back propagation neural network (IBPNN) is used to classify sEMG signals acquired during five different hand motions. The correct classification rates of IBPNN for the five hand movements are significantly higher than that of BPNN and Elman neural network. This reveals that IBPNN achieves the best performance with a small sized training data and can be used in control systems on prosthetic hands and other robotic devices based on electromyography pattern recognition.
Pulmonary Acceleration Time to Optimize the Timing of Lung Transplant in Cystic Fibrosis
Authors: Damy Thibaud , Burgel Pierre‐Régis , Pepin Jean‐Louis , Boelle Pierre‐Yves , Cracowski Claire , Murris‐Espin Marlène , Nove‐Josserand Raphaele , Stremler Nathalie , Simon Tabassome , Adnot Serge , Fauroux Brigitte 
Published: April 2012

Pulmonary hypertension (PH) may affect survival in cystic fibrosis (CF) and can be assessed on echocardiographic measurement of the pulmonary acceleration time (PAT). The study aimed at evaluating PAT as a tool to optimize timing of lung transplant in CF patients. Prospective multicenter longitudinal study of patients with forced expiratory volume in 1 second (FEV1) ≤60% predicted. Echocardiography, spirometry and nocturnal oximetry were obtained as part of the routine evaluation. We included 67 patients (mean FEV1 42±12% predicted), among whom 8 underwent lung transplantation during the mean follow‐up of 19±6 months. No patients died. PAT was determined in all patients and correlated negatively with systolic pulmonary artery pressure (sPAP, r=−0.36, P=0.01). Patients in the lowest PAT tertile (<101 ms) had lower FEV1 and worse nocturnal oxygen saturation, and they were more often on the lung transplant waiting list compared to patients in the other tertiles. Kaplan–Meier curves showed a shorter time to lung transplantation in the lowest PAT tertile (P<0.001) but not in patients with sPAP>35 mmHg. By multivariate analysis, FEV1 and nocturnal desaturation were the main determinants of reduced PAT. A PAT<101 ms reduction is a promising tool for timing of lung transplantation in CF.
Do Households Prefer Small School Districts? A Natural Experiment
Authors: Banzhaf H. Spencer , Bhalla Garima 
Published: April 2012

Some education reformers have proposed breaking up large urban school districts, thereby moving to a more efficient scale, increasing school choices, and promoting school competition. This article tests whether households expect these effects and whether they value them. It considers the effect on real estate prices of the surprise breakup of the Los Angeles Unified School District (LAUSD) into 11 minidistricts in April 2000. We estimate households' reaction to this reform in a difference‐in‐differences setting that controls for any unobserved spatial effects unaffected by the announcement.We find that households valued this decentralization, with a 2–3 percentage point increase in housing values in the LAUSD area over pre‐existing trends, compared with control districts. The effect is highest in wealthier neighborhoods but otherwise homogenous within the LAUSD area. The results suggest that households believe that decentralization would make schools more effective and that they respond to signals about schools' future.
Children and Terror Casualties Receive Preference in ICU Admissions
Authors: Peleg Kobi , Rozenfeld Michael , Dolev Eran ,   the Israel Trauma Group
Published: April 2012

ABSTRACTObjective: Trauma casualties caused by terror-related events and children injured as a result of trauma may be given preference in hospital emergency departments (EDs) due to their perceived importance. We investigated whether there are differences in the treatment and hospitalization of terror-related casualties compared to other types of injury events and between children and adults injured in terror-related events.Methods: Retrospective study of 121 608 trauma patients from the Israel Trauma Registry during the period of October 2000-December 2005. Of the 10 hospitals included in the registry, 6 were level I trauma centers and 4 were regional trauma centers. Patients who were hospitalized or died in the ED or were transferred between hospitals were included in the registry.Results: All analyses were controlled for Injury Severity Score (ISS). All patients with ISS 1-24 terror casualties had the highest frequency of intensive care unit (ICU) admissions when compared with patients after road traffic accidents (RTA) and other trauma. Among patients with terror-related casualties, children were admitted to ICU disproportionally to the severity of their injury. Logistic regression adjusted for injury severity and trauma type showed that both terror casualties and children have a higher probability of being admitted to the ICU.Conclusions: Injured children are admitted to ICU more often than other age groups. Also, terror-related casualties are more frequently admitted to the ICU compared to those from other types of injury events. These differences were not directly related to a higher proportion of severe injuries among the preferred groups.(Disaster Med Public Health Preparedness. 2012;6:14–19)
The New Normal: Twelve Months of Resiliency and Recovery in Christchurch
Authors: McColl Graeme J. , Burkle Frederick M. 
Published: April 2012

ABSTRACTThe series of earthquakes and aftershocks that have hit Christchurch, New Zealand, for more than one year has been severe and sustained, resulting in major damage to homes, buildings, essential services, and resources in water, sewerage, food, access to health care, energy for heating and cooling, and unprecedented challenges to resiliency. Large swathes of destroyed buildings, land damage, and liquefaction have made rebuilding impossible for many. Populations have moved or report that they either wish to or plan to do so. For those who remain, a ”new normal” mindset has taken hold and serves as an objective measure for the process that defines daily life and future decisions. The new normal serves as an uncomfortable but realistic guideline by which further resiliency can be measured. A number of factors have led to the development of the new normal state for the Christchurch earthquake survivors.(Disaster Med Public Health Preparedness. 2012;6:33-43)
Natural convection in a vertical porous cavity filled with a non‐newtonian binary fluid
Authors: Khelifa Nabil Ben , Alloui Zineddine , Beji Hassen , Vasseur Patrick 
Published: April 2012

AbstractNumerical and analytical study of natural convection in a vertical porous cavity filled with a non‐Newtonian binary fluid is presented. The density variation is taken into account by the Boussinesq approximation. A power‐law model is used to characterize the non‐Newtonian fluid behavior. Neumann boundary conditions for temperature are applied to the vertical walls of the enclosure, while the two horizontal ones are assumed impermeable and insulated. Both double‐diffusive convection (a = 0) and Soret‐induced convection (a = 1) are considered. Scale analysis is presented for the two extreme cases of heat‐driven and solute‐driven natural convection. For convection in a thin vertical layer (A ≫ 1), a semianalytical solution for the stream function, temperature, and solute fields, Nusselt and Sherwood numbers are obtained using a parallel flow approximation in the core region of the cavity and an integral form of the energy and constituent equations. Numerical results of the full governing equations show the effects of the governing parameters, namely the thermal Rayleigh number, RT, the Lewis number, Le, the buoyancy ratio, φ, the power‐law index, n, and the integer number a. A good agreement between the analytical predictions and the numerical simulations is obtained. © 2012 American Institute of Chemical Engineers AIChE J, 58: 1704–1716, 2012
Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features
Authors: Lin Henry C. , Le Hoang Phuc , Hutchinson Anne , Chao Grace , Gerfen Jennifer , Loomes Kathleen M. , Krantz Ian , Kamath Binita M. , Spinner Nancy B. 
Published: April 2012

AbstractAlagille syndrome (ALGS, OMIM #118450) is an autosomal dominant disorder that affects multiple organ systems including the liver, heart, eyes, vertebrae, and face. ALGS is caused by mutations in one of two genes in the Notch Signaling Pathway, Jagged1 (JAG1) or NOTCH2. In this study, analysis of 21 Vietnamese ALGS individuals led to the identification of 19 different mutations (18 JAG1 and 1 NOTCH2), 17 of which are novel, including the third reported NOTCH2 mutation in Alagille Syndrome. The spectrum of JAG1 mutations in the Vietnamese patients is similar to that previously reported, including nine frameshift, three missense, two splice site, one nonsense, two whole gene, and one partial gene deletion. The missense mutations are all likely to be disease causing, as two are loss of cysteines (C22R and C78G) and the third creates a cryptic splice site in exon 9 (G386R). No correlation between genotype and phenotype was observed. Assessment of clinical phenotype revealed that skeletal manifestations occur with a higher frequency than in previously reported Alagille cohorts. Facial features were difficult to assess and a Vietnamese pediatric gastroenterologist was only able to identify the facial phenotype in 61% of the cohort. To assess the agreement among North American dysmorphologists at detecting the presence of ALGS facial features in the Vietnamese patients, 37 clinical dysmorphologists evaluated a photographic panel of 20 Vietnamese children with and without ALGS. The dysmorphologists were unable to identify the individuals with ALGS in the majority of cases, suggesting that evaluation of facial features should not be used in the diagnosis of ALGS in this population. This is the first report of mutations and phenotypic spectrum of ALGS in a Vietnamese population. © 2012 Wiley Periodicals, Inc.
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G‐domain: Report of another family with metopic craniosynostosis
Authors: Brasil Amanda S. , Malaquias Alexsandra C. , Kim Chong A. , Krieger José Eduardo , Jorge Alexander A.L. , Pereira Alexandre C. , Bertola Débora R. 
Published: April 2012

AbstractNoonan syndrome (NS) and Noonan‐related disorders [cardio‐facio‐cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS‐ML), and neurofibromatosis‐Noonan syndromes (NFNS)] are a group of developmental disorders caused by mutations in genes of the RAS/MAPK pathway. Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis. Recently, the first familial case with a novel KRAS mutation was described. We report on a second vertical transmission (a mother and two siblings) with a novel mutation (p.M72L), in which the proband has trigonocephaly and the affected mother and sister, prominent ectodermal involvement. Metopic suture involvement has not been described before, expanding the main different cranial sutures which can be affected in NS and KRAS gene mutations. The gene alteration found in the studied family is in close proximity to the one reported in the other familial case (close to the switch II region of the G‐domain), suggesting that this specific region of the gene could have less severe effects on intellectual ability than the other KRAS gene mutations found in NS patients and be less likely to hamper reproductive fitness. © 2012 Wiley Periodicals, Inc.
Consanguinity and the risk of congenital heart disease
Authors: Shieh Joseph T.C. , Bittles Alan H. , Hudgins Louanne 
Published: April 2012

AbstractConsanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study, we ask whether consanguinity affects one of the most common birth defects, congenital heart disease, and identify areas for further research into these birth defects, since consanguinity may now impact health on a near‐global basis. A systematic review of consanguinity in congenital heart disease was performed, focusing on non‐syndromic disease, with the methodologies and results from studies of different ethnic populations compared. The risks for congenital heart disease have been assessed and summarized collectively and by individual lesion. The majority of studies support the view that consanguinity increases the prevalence of congenital heart disease, however, the study designs differed dramatically. Only a few (n = 3) population‐based studies that controlled for potential sociodemographic confounding were identified, and data on individual cardiac lesions were limited by case numbers. Overall the results suggest that the risk for congenital heart disease is increased in consanguineous unions in the studied populations, principally at first‐cousin level and closer, a factor that should be considered in empiric risk estimates in genetic counseling. However, for more precise risk estimates a better understanding of the underlying disease factors is needed. © 2012 Wiley Periodicals, Inc.
Loeys–Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation
Authors: Kuppler Kevin M. , Kirse Daniel J. , Thompson James T. , Haldeman‐Englert Chad R. 
Published: April 2012

AbstractLoeys–Dietz syndrome (LDS) is an autosomal dominant connective tissue condition with clinical features that may include ocular hypertelorism, cleft palate, craniosynostosis, and vascular dilation and tortuosity. Here we describe a patient with LDS confirmed by genetic analysis (R528H mutation of TGFBR2) who presented at 3 months of age in respiratory distress of unknown origin. In addition to expressing several of the classic findings of LDS, including a novel finding of squamosal suture craniosynostosis, CT angiography revealed aortic dilation at the sinus of valsalva, pulmonary artery dilation that extrinsically compressed the right mainstem bronchus causing bronchomalacia, and an apical herniation of the right lung. This is the first documentation of concomitant airway and pulmonary findings in a patient with LDS. We suggest that (1) vascular abnormalities be considered as a cause of unexplained respiratory distress in a patient with LDS, and (2) pediatric patients exhibiting any of the physical findings listed above be evaluated for LDS with particular attention paid to vascular, airway, and/or pulmonary malformations. © 2012 Wiley Periodicals, Inc.
12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility
Authors: Madrigal Irene , Martinez Margarita , Rodriguez‐Revenga Laia , Carrió Ana , Milà Montserrat 
Published: April 2012

AbstractCongenital balanced reciprocal translocations are one of the most frequent structural chromosomal aberrations in the population. We report a familial translocation t(12;22)(p13.3;pter) responsible for intellectual disabilities and congenital anomalies characterized by FISH and array CGH. Two patients carried a der(12)t(12;22)(p13.3;pter), resulting in a 6 Mb 12pter deletion. Patients presented with intellectual disabilities, pre‐ and post‐natal growth retardation, ponderal development delay, global hypotonia, feeding problems and dysmorphic features. Two relatives presented with the reciprocal 12pter duplication, which had no clinical manifestations associated. For this translocation, we propose a mechanism based on a non‐allelic recombination model, in which recombination of direct oriented segmental duplications between non‐homologous chromatids leads to the reciprocal translocation. The characterization of this translocation has been critical for the family. Translocation carriers have a risk of 40% of having offspring carrying unbalanced products. 12p13.3 deletion carriers present with a recognizable syndrome and on the contrary, 12p13.3 duplication carriers present without clinical manifestations. Other published cases of 12p13.3 duplication show that this syndrome has a variable phenotype. It is advisable to delineate the duplication size and to discard other genetic aberrations, in order to give an accurate genetic counseling in patients carrying 12pter duplications. © 2012 Wiley Periodicals, Inc.
No associations found between the genes situated at 6p22.1, HIST1H2BJ, PRSS16, and PGBD1 in Japanese patients diagnosed with schizophrenia
Authors: Kitazawa Maiko , Ohnuma Tohru , Takebayashi Yuto , Shibata Nobuto , Baba Hajime , Ohi Kazutaka , Yasuda Yuka , Nakamura Yukako , Aleksic Branko , Yoshimi Akira , Okochi Tomo , Ikeda Masashi , Naitoh Hiroshi , Hashimoto Ryota , Iwata Nakao , Ozaki Norio , Takeda Masatoshi , Arai Heii 
Published: April 2012

AbstractRecent GWAS demonstrated an association between candidate genes located at region 6p22.1 and schizophrenia. This region has been reported to house certain candidate SNPs, which may be associated with schizophrenia at HIST1H2BJ, PRSS16, and PGBD1. These genes may presumably be associated with pathophysiology in schizophrenia, namely epigenetics and psychoneuroimmunology. A three‐step study was undertaken to focus on these genes with the following aims: (1) whether these genes may be associated in Japanese patients with schizophrenia by performing a 1st stage case–control study (514 cases and 706 controls) using Japanese tagging SNPs; (2) if the genetic regions of interest for the disease from the 1st stage of analyses were found, re‐sequencing was performed to search for new mutations; (3) finally, a replication study was undertaken to confirm positive findings from the 1st stage were reconfirmed using a larger number of subjects (2,583 cases and 2,903 controls) during a 2nd stage multicenter replication study in Japan. Genotyping was performed using TaqMan PCR method for the selected nine tagging SNPs. Although three SNPs situated at the 3′ side of PGBD1; rs3800324, rs3800327, and rs2142730, and two‐window haplotypes between rs3800327 and rs2142730 showed positive associations with schizophrenia, these associations did not have enough power to sustain significance during the 2nd stage replication study. In addition, re‐sequencing for exons 5 and 6 situated at this region did not express any new mutations for schizophrenia. Taken together these results indicate that the genes HIST1H2BJ, PRSS16, and PGBD1 were not associated with Japanese patients with schizophrenia. © 2012 Wiley Periodicals, Inc.