bluuebunny/crossref_metadata_2025_split huggingface dataset:
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure
Authors: Al Zaabi Nuha , Al Menhali Noora , Al‐Jasmi Fatma 
Published: November 2017

AbstractBackgroundSynaptojanin 1 is encoded by the SYNJ1(MIM 604297) and plays a major role in phosphorylation and recycling of synaptic vesicles. Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early‐onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease with intractable seizure and tauopathies (MIM 617389).MethodsWe report two related children from consanguineous family presented with intractable seizure, profound developmental delay, failure to thrive, acquired microcephaly, and hypotonia. The brain MRI is normal and EEG showed hypsarrhythmia.ResultThe diagnosis was achieved via whole‐genome sequencing which showed homozygous mutation in SYNJ1 (c.709C>T, p.Gln237*).ConclusionA clinical pattern of neonatal‐onset intractable seizure, profound developmental delay, muscular hypotonia, hypsarrhythmia, and no focal abnormality of brain MRI should prompt initiation of molecular genetic analysis of SYNJ1. Establishment of the diagnosis permits genetic counseling, prevents patients undergoing unhelpful diagnostic procedures and allows for accurate prognosis.
Reconstruction of elbow skin and soft tissue defects using perforator‐pedicled propeller flaps
Authors: Nakao Junichi , Umezawa Hiroki , Ogawa Rei , Mateev Musa A. 
Published: November 2017

BackgroundThe elbow is a challenging region to reconstruct functionally. Several closure methods for elbow wounds have been reported, including flap surgery. Here, we present the results obtained using a propeller flap pedicled by a posterior ulnar recurrence artery perforator (PURAP) or a radial collateral artery perforator (RCAP) for functional reconstruction of soft tissue defects in elbows.MethodsTwenty‐four patients with an average age of 27.0 years (range, 9–52 years) underwent elbow soft tissue reconstructions between 2005 and 2015. Twenty‐one patients were male and three were female. Among them, 18 patients received a PURAP flap transfer and six received a RCAP flap transfer. The frequent soft tissue defects were due to release of a postburn scar contracture in 12 patients, trauma in ten patients. Functional results were obtained by measuring range of motion (ROM).ResultsThe mean follow up time was 10.1 months (range, 4–22 months). The flaps ranged in size from 3 × 5 cm to 16 × 6 cm. Nearly all flaps survived with only one showing partial necrosis. 16 and 8 patients achieved ranges of motions of 0–5 and 6–15 degree extension and 130–145 degree flexion.ConclusionsWith the aims of easy flap harvest, primary donor site closure, skin texture match, and avoiding vascular anastomosis, both PURAP and RCAP were employed. Both flap transfer techniques were safe and effective for elbow soft tissue reconstruction. It is important to ensure that the skin defect and flap design are closely matched.
Developing and characterizing MR/CT‐visible materials used in QA phantoms for MRgRT systems
Authors: Steinmann Angela , Stafford R. Jason , Sawakuchi Gabriel , Wen Zhifei , Court Laurence , Fuller Clifton D. , Followill David 
Published: November 2017

PurposeSynthetic tissue equivalent (STE) materials currently used to simulate tumor and surrounding tissues for IROC‐Houston's anthropomorphic head and thorax QA phantoms cannot be visualized using magnetic resonance (MR) imaging. The purpose of this study was to characterize dual MR/CT‐visible STE materials that can be used in an end‐to‐end QA phantom for MR‐guided radiotherapy (MRgRT) modalities.MethodsOver 80 materials’ MR, CT, and dosimetric STE properties were investigated for use in MRgRT QA phantoms. The materials tested included homogeneous and heterogeneous materials to simulate soft tissue/tumor and lung tissues. Materials were scanned on a Siemens’ Magnetom Espree 1.5 T using four sequences, which showed the materials visual contrast between T1‐ and T2‐weighted images. Each material's Hounsfield number and electron density data was collected using a GE's CT Lightspeed Simulator. Dosimetric properties were examined by constructing a 10 × 10 × 20 cm3 phantom of the selected STE materials that was divided into three sections: anterior, middle, and posterior. Anterior and posterior pieces were composed of polystyrene, whereas the middle section was substituted with the selected STE materials. EBT3 film was inserted into the phantom's midline and was irradiated using an Elekta's Versa 6 MV beam with a prescription of 6 Gy at 1.5 cm and varying field size of: 10 × 10 cm2, 6 × 6 cm2, and 3 × 3 cm2. Measured film PDD curves were compared to planning system calculations and conventional STE materials’ percent depth dose (PDD) curves.ResultsThe majority of the tested materials showed comparable CT attenuation properties to their respective organ site; however, most of the tested materials were not visible on either T1‐ or T2‐weighted MR images. Silicone, hydrocarbon, synthetic gelatin, and liquid PVC plastic‐based materials showed good MR image contrast. In‐house lung equivalent materials made with either silicone‐ or hydrocarbon‐based materials had HUs ranging from: −978 to −117 and −667 to −593, respectively. Synthetic gelatin and PVC plastic‐based materials resembled soft tissue/tumor equivalent materials and had HUs of: −175 to −170 and −29 to 32, respectively.PDD curves of the selected MR/CT‐visible materials were comparable to IROC‐Houston's conventional phantom STE materials. The smallest field size showed the largest disagreements, where the average discrepancies between calculated and measured PDD curves were 1.8% and 5.9% for homogeneous and heterogeneous testing materials, respectively.ConclusionsGelatin, liquid plastic, and hydrocarbon‐based materials were determined as alternative STE substitutes for MRgRT QA phantoms.
Spring–damper equivalents of the fractional, poroelastic, and poroviscoelastic models for elastography
Authors: Holm Sverre 
Published: November 2017

In MR elastography, it is common to use an elastic model for the tissue's response in order to interpret the results properly. More complex models, such as viscoelastic, fractional viscoelastic, poroelastic, or poroviscoelastic ones, are also used. These models appear at first sight to be very different, but here it is shown that they may all be expressed in terms of elementary viscoelastic models.For a medium expressed with fractional models, many elementary spring–damper combinations are added, each of them weighted according to a long‐tailed distribution of time constants or relaxation frequencies. This may open up a more physical interpretation of fractional models.The shear‐wave component of the poroelastic model is shown to be modeled exactly by a three‐component Zener model. The extended poroviscoelastic model is found to be equivalent to what is called a non‐standard four‐parameter model. Accordingly, the large number of parameters in the porous models can be reduced to the same number as in their viscoelastic equivalents. While the individual displacements from the solid and fluid parts cannot be measured individually, the main use of the poro(visco)elastic models is therefore as a physics‐based method for determining parameters in a viscoelastic model.
Origin of clear cell carcinoma: nature or nurture?
Authors: Kolin David L , Dinulescu Daniela M , Crum Christopher P 
Published: November 2017

AbstractA rare but serious complication of endometriosis is the development of carcinoma, and clear cell and endometrioid carcinomas of the ovary are the two most common malignancies which arise from endometriosis. They are distinct diseases, characterized by unique morphologies, immunohistochemical profiles, and responses to treatment. However, both arise in endometriosis and can share common mutations. The overlapping mutational profiles of clear cell and endometrioid carcinomas suggest that their varied histologies may be due to a different cell of origin which gives rise to each type of cancer. Cochrane and colleagues address this question in a recent article in this journal. They show that a marker of ovarian clear cell carcinoma, cystathionine gamma lyase, is expressed in ciliated cells. Similarly, they show that markers of secretory cells (estrogen receptor and methylenetetrahydrofolate dehydrogenase 1) are expressed in ovarian endometrioid carcinoma. Taken together, they suggest that endometrioid and clear cell carcinomas arise from cells related to secretory and ciliated cells, respectively. We discuss Cochrane et al's work in the context of other efforts to determine the cell of origin of gynecological malignancies, with an emphasis on recent developments and challenges unique to the area. These limitations complicate our interpretation of tumor differentiation; does it reflect nature imposed by a specific cell of origin or nurture, by either mutation(s) or environment? Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Understanding the light‐induced degradation at elevated temperatures: Similarities between multicrystalline and floatzone p‐type silicon
Authors: Niewelt Tim , Schindler Florian , Kwapil Wolfram , Eberle Rebekka , Schön Jonas , Schubert Martin C. 
Published: November 2017

AbstractThis paper discusses degradation phenomena in crystalline silicon. We present new investigations of the light‐ and elevated temperature‐induced degradation of multicrystalline silicon. The investigations provide insights into the defect parameters as well as the diffusivity and solubility of impurity species contributing to the defect. We discuss possible defect precursor species and can rule out several metallic impurities. We find that an involvement of hydrogen in the defect could explain the characteristic observations for light‐ and elevated temperature‐induced degradation. Furthermore, we demonstrate analogies to the light‐induced degradation mechanisms at elevated temperatures observed in floatzone silicon, where several experimental results also indicate an involvement of hydrogen in the defect. Based on the similarities between multicrystalline and floatzone silicon, we suggest that both degradation phenomena might be caused by the same or similar defects. As we do not expect large concentrations of metals in floatzone silicon, we suggest that complexes of hydrogen and a species introduced during crystal growth might cause both degradation phenomena.
Outcomes of an enhancement study with additional psychoeducational sessions for healthy siblings of a child with cancer during inpatient family‐oriented rehabilitation
Authors: Niemitz Mandy , Goldbeck Lutz 
Published: November 2017

AbstractObjectiveChronic illness of a child puts healthy children of the family at risk of distress. Previous studies have demonstrated that healthy children's psychological symptoms can be reduced when the child knows more about the disease. So far, there is limited evidence of the effectiveness of psychoeducational interventions for healthy children.AimsTo compare the effectiveness of an inpatient family‐oriented rehabilitation program with vs without additional psychoeducational sessions for healthy children of families with children with cancer.Patients and methodsWe performed a controlled study in 4 German family‐oriented rehabilitation clinics. The outcomes of n = 73 healthy children (mean age: M = 9.55; SD = 3.14; range: 4–18), who participated in 5 additional psychoeducational sessions, were compared with the outcomes of n = 111 healthy children (mean age: M = 8.85; SD = 3.28; range: 4–17), who underwent the usual inpatient rehabilitation program. Primary outcomes were the healthy children's cancer‐specific knowledge and their emotional symptoms. Secondary outcomes were family satisfaction and quality of life.ResultsIntention‐to‐treat analyses showed that both groups improved significantly from preintervention to postintervention. Improvements comprised knowledge about cancer (F(1,174) = 11.03, p < 0.001), self‐reported emotional symptoms (F(1,135) = 31.68, p < 0.001), and parent‐proxy‐reported emotional symptoms (F(1,179) = 37.07, p < 0.001). The additional psycho‐educational program did not significantly enhance the outcomes. The same pattern of significant improvement in both conditions emerged for all secondary outcomes. The immediate effects of the intervention persisted until 2 months after discharge from the rehabilitation program.ConclusionsInpatient family‐oriented rehabilitation is effective in improving multiple psychosocial outcomes of healthy children in families which have a child with cancer. Additional psycho‐educational sessions did not show any substantial additional improvement.
Methacholine challenge test: Comparison of tidal breathing and dosimeter methods in children
Authors: Mazi Ahlam , Lands Larry C. , Zielinski David 
Published: November 2017

AbstractIntroductionMethacholine Challenge Test (MCT) is used to confirm, assess the severity and/or rule out asthma. Two MCT methods are described as equivalent by the American Thoracic Society (ATS), the tidal breathing and the dosimeter methods. However, the majority of adult studies suggest that individuals with asthma do not react at the same PC20 between the two methods. Additionally, the nebulizers used are no longer available and studies suggest current nebulizers are not equivalent to these. Our study investigates the difference in positive MCT tests between three methods in a pediatric population.MethodsA retrospective, chart review of all MCT performed with spirometry at the Montreal Children's Hospital from January 2006 to March 2016. A comparison of the percentage positive MCT tests with three methods, tidal breathing, APS dosimeter and dose adjusted DA‐dosimeter, was performed at different cutoff points up to 8 mg/mL.ResultsA total of 747 subjects performed the tidal breathing method, 920 subjects the APS dosimeter method, and 200 subjects the DA‐dosimeter method. At a PC20 cutoff ≤4 mg/mL, the percentage positive MCT was significantly higher using the tidal breathing method (76.3%) compared to the APS dosimeter (45.1%) and DA‐dosimeter (65%) methods (P < 0.0001).ConclusionThe choice of nebulizer and technique significantly impacts the rate of positivity when using MCT to diagnose and assess asthma. Lack of direct comparison of techniques within the same individuals and clinical assessment should be addressed in future studies to standardize MCT methodology in children.
Template‐based quaternary structure prediction of proteins using enhanced profile–profile alignments
Authors: Nakamura Tsukasa , Oda Toshiyuki , Fukasawa Yoshinori , Tomii Kentaro 
Published: November 2017

AbstractProteins often exist as their multimeric forms when they function as so‐called biological assemblies consisting of the specific number and arrangement of protein subunits. Consequently, elucidating biological assemblies is necessary to improve understanding of protein function. Template‐Based Modeling (TBM), based on known protein structures, has been used widely for protein structure prediction. Actually, TBM has become an increasingly useful approach in recent years because of the increased amounts of information related to protein amino acid sequences and three‐dimensional structures. An apparently similar situation exists for biological assembly structure prediction as protein complex structures in the PDB increase, although the inference of biological assemblies is not a trivial task. Many methods using TBM, including ours, have been developed for protein structure prediction. Using enhanced profile–profile alignments, we participated in the 12th Community Wide Experiment on the Critical Assessment of Techniques for Protein Structure Prediction (CASP12), as the FONT team (Group # 480). Herein, we present experimental procedures and results of retrospective analyses using our approach for the Quaternary Structure Prediction category of CASP12. We performed profile–profile alignments of several types, based on FORTE, our profile–profile alignment algorithm, to identify suitable templates. Results show that these alignment results enable us to find templates in almost all possible cases. Moreover, we have come to understand the necessity of developing a model selection method that provides improved accuracy. Results also demonstrate that, to some extent, finding templates of protein complexes is useful even for MEDIUM and HARD assembly prediction.
Recursive filtering for state‐saturated systems with randomly occurring nonlinearities and missing measurements
Authors: Wen Chuanbo , Wang Zidong , Hu Jun , Liu Qinyuan , Alsaadi Fuad E. 
Published: November 2017

SummaryThis paper deals with the filtering problem for a class of discrete‐time state‐saturated systems subject to randomly occurring nonlinearities and missing measurements. A set of mutually independent Bernoulli random variables is used to describe the random occurrence of the missing measurements. Due to the simultaneous consideration of the state saturation, the randomly occurring nonlinearities, and the missing measurements, it is extremely hard to calculate the actual filtering error covariance in a closed form. As such, the objective of this paper is to construct an upper bound for the filtering error covariance and then design the filter parameters to minimize such an upper bound. The performance of the proposed filters is analyzed in terms of boundedness and monotonicity. Specially, we have shown that the minimum upper bound is always bounded under a mild assumption. Moreover, the relationship between the estimator performance and the arrival probability of the measurements is discussed. A numerical simulation is used to demonstrate the effectiveness of the filtering method.
H∞ model predictive control for constrained discrete‐time piecewise affine systems
Authors: Sindareh Esfahani Peyman , Pieper Jeffery Kurt 
Published: November 2017

SummaryThis paper investigates
stability analysis for piecewise affine (PWA) systems and specifically contributes a new
robust model predictive control strategy for PWA systems in the presence of constraints on the states and inputs and with l2 or norm‐bounded disturbances. The proposed controller is based on piecewise quadratic Lyapunov functions. The problem of minimization of the cost function for model predictive control design is changed to minimization of the worst case of the cost function. Then, this objective is reduced to minimization of a supremum of the cost function subject to a terminal inequality by considering the induced l2‐norm. Finally, the predictive controller design problem is turned into a linear matrix inequality feasibility exercise with constraints on the input signal and state variables. It is shown that the closed‐loop system is asymptotically stable with guaranteed robust
performance. The validity of the proposed method is verified through 3 well‐known examples of PWA systems. Simulation results are provided to show good convergence properties along with capability of the proposed controller to reject disturbances.
Adaptive‐impulsive consensus of multiagent systems
Authors: Ma Tiedong , Li Teng , Cui Bing 
Published: November 2017

SummaryThis paper studies the leader‐following consensus problem of multiagent nonlinear systems with uncertain parameters and control gain error. On the basis of the theory of impulsive differential equations, the adaptive control technique, and the Lyapunov stability theory, some novel adaptive‐impulsive consensus conditions are given to realize the consensus of a class of multiagent nonlinear systems. Compared with the existing investigations on the impulsive consensus of multiagent systems, the proposed impulsive control protocol with uncertain parameters and control gain error is more rigorous and effective in practical systems. Four numerical simulations are verified to confirm the effectiveness of the proposed methods.
An efficient method for stochastic optimal control with joint chance constraints for nonlinear systems
Authors: Paulson Joel A. , Mesbah Ali 
Published: November 2017

SummaryStochastic model predictive control hinges on the online solution of a stochastic optimal control problem. This paper presents a computationally efficient solution method for stochastic optimal control for nonlinear systems subject to (time‐varying) stochastic disturbances and (time‐invariant) probabilistic model uncertainty in initial conditions and parameters. To this end, new methods are presented for joint propagation of time‐varying and time‐invariant probabilistic uncertainty and the nonconservative approximation of joint chance constraint (JCC) on the system state. The proposed uncertainty propagation method relies on generalized polynomial chaos and conditional probability rules to obtain tractable expressions for the state mean and covariance matrix. A moment‐based surrogate is presented for JCC approximation to circumvent construction of the full probability distribution of the state or the use of integer variables as required when using the sample average approximation. The proposed solution method for stochastic optimal control is illustrated on a nonlinear semibatch reactor case study in the presence of probabilistic model uncertainty and stochastic disturbances. It is shown that the proposed solution method is significantly superior to a standard random sampling method for stochastic optimal control in terms of computational requirements. Furthermore, the moment‐based surrogate for the JCC is shown to be substantially less conservative than the widely used distributionally robust Cantelli‐Chebyshev inequality for chance constraint approximation.
On the K‐sat model with large number of clauses
Authors: Panchenko Dmitry 
Published: November 2017

AbstractWe show that in the K‐sat model with N variables and αN clauses, the expected ratio of the smallest number of unsatisfied clauses to the number of variables is up to smaller order terms as uniformly in N, where is the expected normalized maximum energy of some specific mixed p‐spin spin glass model. The formula for the limit of is well known in the theory of spin glasses.
Smart gateways switching control algorithms based on tropospheric propagation forecasts
Authors: Jeannin Nicolas , Castanet Laurent , Dahman Isabelle , Pourret Vivien , Pouponneau Béatrice 
Published: November 2017

SummaryThe use Q/V band spectrum for the feeder links of high throughput satellites and the need to cope with the significant propagation impairments at those frequencies motivate the development of smart diversity techniques. Those techniques aim at improving the availability level of the overall feeder link with a limited level of redundancy. The combinatorial gain of availability provided by those techniques can be obtained only if efficient switching methodologies are developed, performing the best trade‐off between system flexibility and channel prediction accuracy. This paper proposes various propagation forecast mechanisms for the control of switching between gateways in smart diversity, corresponding to various system assumptions in terms of required anticipation time for the triggering of the switches. The performances of those algorithms are then assessed against measured attenuation and meteorological data. It enables to evaluate the performance degradation regarding an idealized case.