bluuebunny/crossref_metadata_2025_split huggingface dataset:
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal
Authors: Coelho Ana I. , Ramos Ruben , Gaspar Ana , Costa Cláudia , Oliveira Anabela , Diogo Luísa , Garcia Paula , Paiva Sandra , Martins Esmeralda , Teles Elisa Leão , Rodrigues Esmeralda , Cardoso M. Teresa , Ferreira Elena , Sequeira Sílvia , Leite Margarida , Silva Maria João , de Almeida Isabel Tavares , Vicente João B. , Rivera Isabel 
Published: June 2013

AbstractClassic galactosemia is an autosomal recessive disorder caused by deficient galactose‐1‐phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long‐term complications, with a broad range of clinical symptoms whose pathophysiology is poorly understood. The high allelic heterogeneity of GALT gene that characterizes this disorder is thought to play a determinant role in biochemical and clinical phenotypes. We aimed to characterize the mutational spectrum of GALT deficiency in Portugal and to assess potential genotype‐phenotype correlations. Direct sequencing of the GALT gene and in silico analyses were employed to evaluate the impact of uncharacterized mutations upon GALT functionality. Molecular characterization of 42 galactosemic Portuguese patients revealed a mutational spectrum comprising 14 nucleotide substitutions: ten missense, two nonsense and two putative splicing mutations. Sixteen different genotypic combinations were detected, half of the patients being p.Q188R homozygotes. Notably, the second most frequent variation is a splicing mutation. In silico predictions complemented by a close‐up on the mutations in the protein structure suggest that uncharacterized missense mutations have cumulative point effects on protein stability, oligomeric state, or substrate binding. One splicing mutation is predicted to cause an alternative splicing event. This study reinforces the difficulty in establishing a genotype‐phenotype correlation in classic galactosemia, a monogenic disease whose complex pathogenesis and clinical features emphasize the need to expand the knowledge on this “cloudy” disorder.
Habitat‐specific responses of seed germination and seedling establishment to soil water condition in two Rheum species in the high Sino‐Himalayas
Authors: Song Bo , Stöcklin Jürg , Gao Yong‐Qian , Zhang Zhi‐Qiang , Yang Yang , Li Zhi‐Ming , Sun Hang 
Published: June 2013

AbstractKnowledge of how germination and seedling establishment respond to soil water condition is crucial for plant conservation under global warming and land‐use changes. We tested the flooding and drought tolerance of two plant species with different occurrences along a soil water gradient by assessing seed germination, seedling survival, seedling growth, and root characteristics. In the high Sino‐Himalayas, Rheum alexandrae typically occurs in wetlands, R. nobile in scree or open slope with well‐drained soils. Seeds and seedlings of the two species were subjected to different soil water conditions in controlled greenhouse experiments. Seed germination in both species was inhibited by high soil water content; however, seeds of R. alexandrae were more tolerant to flooding, especially to submergence. Seedling survival, biomass accumulation, root diameter, and root porosity of R. alexandrae increased significantly with increased soil water content, but submergence was lethal for seedlings. Seedling survival, biomass accumulation, and root length of R. nobile increased significantly in response to reduced soil water content. These results indicate that in the two species, seed germination and seedling establishment in response to different soil water condition are habitat‐specific. Because both species are susceptible to moderate changes in soil water condition, their species‐specific requirements with respect to this factor should be a consideration when planning their conservation.
Simulation of the effect of root distribution on hydraulic redistribution in a desert riparian forest
Authors: Hao Xing Ming , Li Wei Hong , Guo Bin , Ma Jian Xin 
Published: June 2013

AbstractHydraulic redistribution (HR) of roots plays an important role in the water relations of desert riparian plants. In order to estimate the effect of vertical root distribution on the HR process of Populus euphratica Oliv. during the entire growth season, we performed simulation and scenario analyses based on the observed soil water potential and root distribution data. The results showed that our simulation model achieved a good accuracy. The initial value of soil water content could significantly affect the simulated soil water content at soil depths of >90 cm, but had only limited effect on soil water content in the 0‐ to 90‐cm soil layers. Scenario analysis revealed that with increase in root distribution depth, the HR process extended from the upper and middle soil layers downward toward the middle and deeper soil layers: the deeper the root distribution, the more likely it was to trigger the HR process in deep soil layers. However, a deeper rooting system led to a decrease in the total amount of hydraulically redistributed water over the entire soil column. Redistributed water also significantly increased the soil water depletion and the soil water storage. However, the effects of redistributed water (HR vs. without HR) on water depletion and soil water storage were reduced with the deepening of root distribution. These results indicate that HR can obviously affect the moisture of the upper soil layers, while vertical root distribution significantly changes the spatial and quantitative characteristics of HR within soil columns.
Secrets from friends and parents: Longitudinal links with depression and antisocial behavior
Authors: Laird Robert D. , Bridges Brittanee J. , Marsee Monica A. 
Published: June 2013

ABSTRACTKeeping secrets from parents is associated with depression and antisocial behavior. The current study tested whether keeping secrets from best friends is similarly linked to maladjustment, and whether associations between secrecy and maladjustment are moderated by the quality of the friendship. Adolescents (N = 181; 51% female, 48% white, non‐Hispanic, 45% African American) reported their secrecy from parents and best friends, the quality of their parent–adolescent relationships and best friendships, and their depression and antisocial behavior at ages 12 and 13. Keeping more secrets from best friends was associated with more depression, but not with more antisocial behavior, when controlling for earlier adjustment, secrecy from parents, and the quality of the friendship. For girls associations between maladjustment and secrecy were conditioned by the quality of the relationships and whether secrets were kept from parents and friends. Discussion argues for expanding the study of secrecy in adolescence beyond the parent–child dyad.
Understanding urban transportation in India as polycentric system
Authors: Vaidyanathan Vivek , King Robin A , de Jong Martin 
Published: June 2013

AbstractThis paper attempts to study urban transport planning in India from a polycentric governance point of view. Urban transport planning in India is a relatively new phenomenon and is largely top-down. There have been questions raised about the feasibility of many urban transport projects which have been commissioned. A polycentric governance system with a focus on multiple actors and power centres, a decentralized and participative decision making process offers a different way of understanding governance processes and decision making.
Using Participatory Action Research to Identify Strategies to Improve Pandemic Vaccination
Authors: Crowley Kathleen A. , Myers Ronnie , Riley Halley E.M. , Morse Stephen S. , Brandt-Rauf Paul , Gershon Robyn R.M. 
Published: June 2013

AbstractObjectiveDeveloping and implementing effective strategies to increase influenza vaccination rates among health care personnel is an ongoing challenge, especially during a pandemic. We used participatory action research (PAR) methodology to identify targeted vaccination interventions that could potentially improve vaccine uptake in a medical center.MethodsFront-line medical center personnel were recruited to participate in 2 PAR teams (clinical and nonclinical staff). Data from a recent medical center survey on barriers and facilitators to influenza (seasonal, pandemic, and combination) vaccine uptake were reviewed, and strategies to increase vaccination rates among medical center personnel were identified.ResultsFeasible, creative, and low-cost interventions were identified, including organizational strategies that differed from investigator-identified interventions. The recommended strategies also differed by team. The nonclinical team suggested programs focused on dispelling vaccination-related myths, and the clinical team suggested campaigns emphasizing the importance of vaccination to protect patients.ConclusionsPAR methodology was useful to identify innovative and targeted recommendations for increasing vaccine uptake. By involving representative front-line workers, PAR may help medical centers improve influenza vaccination rates across all work groups. (Disaster Med Public Health Preparedness. 2013;0:1–7)
Nutritional impacts of a fruit and vegetable subsidy programme for disadvantaged Australian Aboriginal children
Authors: Black Andrew P. , Vally Hassan , Morris Peter , Daniel Mark , Esterman Adrian , Karschimkus Connie S. , O'Dea Kerin 
Published: June 2013

Healthy food subsidy programmes have not been widely implemented in high-income countries apart from the USA and the UK. There is, however, interest being expressed in the potential of healthy food subsidies to complement nutrition promotion initiatives and reduce the social disparities in healthy eating. Herein, we describe the impact of a fruit and vegetable (F&V) subsidy programme on the nutritional status of a cohort of disadvantaged Aboriginal children living in rural Australia. A before-and-after study was used to assess the nutritional impact in 174 children whose families received weekly boxes of subsidised F&V organised through three Aboriginal medical services. The nutritional impact was assessed by comparing 24 h dietary recalls and plasma carotenoid and vitamin C levels at baseline and after 12 months. A general linear model was used to assess the changes in biomarker levels and dietary intake, controlled for age, sex, community and baseline levels. Baseline assessment in 149 children showed low F&V consumption. Significant increases (P< 0·05) in β-cryptoxanthin (28·9 nmol/l, 18 %), vitamin C (10·1 μmol/l, 21 %) and lutein–zeaxanthin (39·3 nmol/l, 11 %) levels were observed at the 12-month follow-up in 115 children, although the self-reported F&V intake was unchanged. The improvements in the levels of biomarkers of F&V intake demonstrated in the present study are consistent with increased F&V intake. Such dietary improvements, if sustained, could reduce non-communicable disease rates. A controlled study of healthy food subsidies, together with an economic analysis, would facilitate a thorough assessment of the costs and benefits of subsidising healthy foods for disadvantaged Aboriginal Australians.
Graptoloid evolutionary rates track Ordovician–Silurian global climate change
Authors: COOPER ROGER A. , SADLER PETER M. , MUNNECKE AXEL , CRAMPTON JAMES S. 
Published: June 2013

AbstractGraptoloid evolutionary dynamics show a marked contrast from the Ordovician to the Silurian. Subdued extinction and origination rates during the Ordovician give way, during the late Katian, to rates that were highly volatile and of higher mean value through the Silurian, reflecting the significantly shorter lifespan of Silurian species. These patterns are revealed in high-resolution rate curves derived from the CONOP (constrained optimization) scaled and calibrated global composite sequence of 2094 graptoloid species. The end-Ordovician mass depletion was driven primarily by an elevated extinction rate which lasted forc. 1.2 Ma with two main spikes during the Hirnantian. The early Silurian recovery, although initiated by a peak in origination rate, was maintained by a complex interplay of origination and extinction rates, with both rates rising and falling sharply. The global δ13C curve echoes the graptoloid evolutionary rates pattern; the prominent and well-known positive isotope excursions during the Late Ordovician and Silurian lie on or close to times of sharp decline in graptoloid species richness, commonly associated with extinction rate spikes. The graptoloid and isotope data point to a relatively steady marine environment in the Ordovician with mainly background extinction rates, changing during the Katian to a more volatile climatic regime that prevailed through the Silurian, with several sharp extinction episodes triggered by environmental crises. The correlation of graptoloid species diversity with isotopic ratios was positive in the Ordovician and negative in the Silurian, suggesting different causal linkages. Throughout the history of the graptoloid clade all major depletions in species richness except for one were caused by elevated extinction rate rather than decreased origination rate.
Seroprevalence and GIS-supported risk factor analysis of Fasciola hepatica infections in dairy herds in Germany
Authors: KUERPICK BIRTE , CONRATHS FRANZ J. , STAUBACH CHRISTOPH , FRÖHLICH ANDREAS , SCHNIEDER THOMAS , STRUBE CHRISTINA 
Published: June 2013

SUMMARYA total of 20 749 bulk tank milk (BTM) samples was collected in November 2008 from all over Germany, corresponding to 20·9% of all German dairy herds. The BTM samples were analysed for antibodies against Fasciola hepatica using the excretory–secretory (ES) ELISA. A geospatial map was drawn to show herd prevalences per postal code area. Various spatial risk factors were tested for potential statistical associations with the ELISA results in logistic regression supported by a geographical information system (GIS). The mean seroprevalence was 23·6% and prevalences in different German federal states varied between 2·6% and 38·4%. GIS analysis revealed statistically significant positive associations between the proportion of grassed area and water bodies per postal code area and positive BTM ELISA results. This can be explained by the biology of the intermediate host, the amphibious snail Galba (Lymnea) truncatula and the pasture-borne nature of fasciolosis. The full logistic regression model had a Pseudo-R2 of 22%, while the final model obtained by controlled stepwise model building revealed a Pseudo-R2 of 14%, indicating that additional, unrecorded factors and random effects contributed substantially to the occurrence of positive ELISA results. Considering the high seroprevalences in some areas and the economic impact of fasciolosis, farmers and veterinarians should be strongly advised to implement effective liver fluke control programmes.
Active control of flexible one-link manipulators using wavelet networks
Authors: Gervini V. I. , Hemerly E. M. , Gomes S. C. P. 
Published: June 2013

SUMMARYThe design of control laws for flexible manipulators is known to be a challenging problem, when using a conventional actuator, i.e., a motor with gear. This is due to the friction of the nonlinear actuator, which causes torque dead zone and stick-slip behavior, thereby hampering the good performance of the control system. The torque needed to attenuate the vibrations, although calculated by the control law, is consumed by the friction inside the actuator, rendering it ineffective to the flexible structure control. Nonlinear friction varies with different operational conditions of the actuator and a friction compensation mechanism based on these models cannot always keep a good performance. This study proposes a new control strategy using wavelet network to friction compensation. Experimental results obtained with a flexible manipulator attest to the good performance of the proposed control law.
Path planning for simple wheeled robots: sub-Riemannian and elastic curves on SE(2)
Authors: Maclean Craig , Biggs James D. 
Published: June 2013

SUMMARYThis paper presents a motion planning method for a simple wheeled robot in two cases: (i) where translational and rotational speeds are arbitrary, and (ii) where the robot is constrained to move forwards at unit speed. The motions are generated by formulating a constrained optimal control problem on the Special Euclidean group SE(2). An application of Pontryagin's maximum principle for arbitrary speeds yields an optimal Hamiltonian which is completely integrable in terms of Jacobi elliptic functions. In the unit speed case, the rotational velocity is described in terms of elliptic integrals, and the expression for the position is reduced to quadratures. Reachable sets are defined in the arbitrary speed case, and a numerical plot of the time-limited reachable sets is presented for the unit speed case. The resulting analytical functions for the position and orientation of the robot can be parametrically optimised to match prescribed target states within the reachable sets. The method is shown to be easily adapted to obstacle avoidance for static obstacles in a known environment.
A globally converging algorithm for adaptive manipulation and trajectory following for mobile robots with serial redundant arms
Authors: Moubarak Paul , Ben-Tzvi Pinhas 
Published: June 2013

SUMMARYIn this paper the tip-over stability of mobile robots during manipulation with redundant arms is investigated in real-time. A new fast-converging algorithm, called theCircles Of INitialization(COIN), is proposed to calculate globally optimal postures of redundant serial manipulators. The algorithm is capable of trajectory following, redundancy resolution, and tip-over prevention for mobile robots during eccentric manipulation tasks. The proposed algorithm employsa prioritraining data generated from an exhaustive resolution of the arm's redundancy along a single direction in the manipulator's workspace. This data is shown to provide educated initial guess that enablesCOINto swiftly converge to the global optimum for any other task in the workspace. Simulations demonstrate the capabilities ofCOIN, and further highlight its convergence speed relative to existing global search algorithms.
Generic singularities of symplectic and quasi-symplectic immersions
Authors: DOMITRZ W. , JANECZKO S. , ZHITOMIRSKII M. 
Published: June 2013

AbstractFor any k<2n we construct a complete system of invariants in the problem of classifying singularities of immersed k-dimensional submanifolds of a symplectic 2n-manifold at a generic double point.
Differences in the epidemiology between paediatric and adult invasiveStreptococcus pyogenesinfections
Authors: ZACHARIADOU L. , STATHI A. , TASSIOS P. T. , PANGALIS A. , LEGAKIS N. J. ,   the Hellenic Strep-Euro Study Group, PAPAPARASKEVAS J. 
Published: June 2013

SUMMARYIn order to investigate for possible differences between paediatric and adult invasiveStreptococcus pyogenes(iGAS) infections, a total of 142 cases were identified in 17 Greek hospitals during 2003–2007, of which 96 were children and 46 adults. Bacteraemia, soft tissue infections, streptococcal toxic shock syndrome (STSS), and necrotizing fasciitis were the main clinical presentations (67·6%, 45·1%, 13·4%, and 12·0% of cases, respectively). Bacteraemia and lymphadenitis were significantly more frequent in children (P = 0·019 and 0·021, respectively), whereas STSS was more frequent in adults (P = 0·017). The main predisposing factors in children were varicella and streptococcal pharyngotonsillitis (25% and 19·8%, respectively), as opposed to malignancy, intravenous drug abuse and diabetes mellitus in adults (19·6%, 15·2% and 10·9%, respectively). Of the two dominantemm-types, 1 and 12 (28·2% and 8·5%, respectively), the proportion ofemm-type 12 remained stable during the study period, whereasemm-type 1 rates fluctuated considerably. Strains ofemm-type 1 from children were associated with erythromycin susceptibility, STSS and intensive-care-unit admission, whereasemm-type 12 isolates from adults were associated with erythromycin and clindamycin resistance. Finally, specificemm-types were detected exclusively in adults or in children. In conclusion, several clinical and epidemiological differences were detected, that could prove useful in designing age-focused strategies for prevention and treatment of iGAS infections.
Atrial septal aneurysms in childhood: prevalence, classification, and concurrent abnormalities
Authors: Giannopoulos Andreas , Gavras Christoforos , Sarioglou Stavroula , Agathagelou Fotini , Kassapoglou Irene , Athanassiadou Fani 
Published: June 2013

AbstractObjectives: This study sought to investigate the prevalence of atrial septal aneurysms in the paediatric population and to define coexisting abnormalities and their incidence. Background: Few papers refer to the prevalence of atrial septal aneurysms in childhood. Methods: We enrolled a total of 4522 children aged more than 12 months who underwent a transthoracic echocardiography. Atrial septal aneurysm was defined as a protrusion of the interatrial septum or part of it >15 mm beyond the plane of the atrial septum or phasic excursion of the interatrial septum during the cardiorespiratory cycle of at least 15 mm in total amplitude and a diameter of the base of the aneurysm of at least 15 mm. Results: Atrial septal aneurysms were found in 47 children (1.04%). They involved almost the entire septum in 14 patients (28.89%) and were limited to the fossa ovalis in 33 (71.11%). An atrial septal aneurysm was an isolated structural defect in 17 (35.56%). In 30 (64.44%) patients, it was associated with interatrial shunting – atrial septal defect and patent foramen ovale. At the echo follow-up after a year, no changes were recorded. Conclusions: Prevalence of atrial septal aneurysms is almost 1%. The most common abnormalities associated are interatrial shunts, that is, a patent foramen ovale and an atrial septal defect. From a medical point of view, it is suggested that no action is to be taken during childhood, as a child with an atrial septal aneurysm is not at increased risk compared with a child without one. Follow-up is scheduled on an individual basis.
Decreased Cognitive Function in Extended Family Members from the Single Late-Onset-Alzheimer's-Disease Pedigree
Authors: Zeng Yan , Chang Wei , Shu Chang , Ma Lina , Huang Yuanyuan , Wang Ruoshi , Zhang Junpeng , Zhu Changcai , McClintock Shawn M. 
Published: June 2013

AbstractA family history of dementia is associated with an increased risk of developing Alzheimer's disease (AD) late in life (LOAD). This study marked the first attempt to assess the familial contribution to differences in cognitive performance in a large family-based group in the Chinese community. We enrolled 168 participants without dementia from a single pedigree with 9 probable AD patients diagnosed after age 65. These participants were evaluated with a comprehensive neuropsychological battery, the Chinese version of the Mini Mental State Examination, and the Alzheimer Disease Assessment Scale–Cognitive Subscale. Analyses found that extended family members of the LOAD pedigree showed similar performance on measures of global cognitive function and semantic memory compared to controls, but lower scores on episodic memory, attention, and executive function measures. These results indicate that the genetic influences on certain sub-cognitive domains are more detectable despite normal global cognitive function, and that family members with the LOAD pedigree are at risk for developing LOAD by virtue of their family history with an additive risk due to increased age. The findings in this study support the importance of documenting if there is a positive family history of AD in clinical evaluations. (JINS, 2013, 19, 1–11)