Miracle-dz/UniFAR-FTUs huggingface dataset:
Expanding the phenotype of Seckel syndrome associated with biallelic loss‐of‐function variants in CEP63

Seckel syndrome is an ultrarare autosomal recessive genetically heterogenous condition characterized by intrauterine and postnatal growth restriction, proportionate severe short stature, severe microcephaly, intellectual disability, and distinctive facial features including a prominent nose. Up to now, 40 patients with molecularly confirmed Seckel syndrome have been reported with biallelic variants in nine genes: ATR, CENPJ, CEP63, CEP152, DNA2, NIN, NSMCE2, RBBP8, and TRAIP. Homozygosity for nonsense variant (c.129G>A, p.43*) in CEP63 was described in three cousins with microcephaly, short stature, mild to moderate intellectual disability and diagnoses of Seckel syndrome. Here, we report a second family with three siblings who are compound heterozygous for loss‐of‐function variants in CEP63, c.1125T>G, p.(Tyr375*) and c.595del, p.(Glu199Asnfs*11). All siblings present with microcephaly, prominent nose, and intellectual disability but only one has severe short stature. Two siblings have aggressive behavior, a feature previously not reported in Seckel syndrome. This report adds two novel truncating variants in CEP63 and extends the clinical knowledge on CEP63‐related conditions.
Bondi–Hoyle–Lyttleton accretion flow revisited: Analytic solution

The time-steady equation for a 1D wind accretion ﬂow, i.e. the Bondi–Hoyle–Lyttleton (BHL) equation, is investigated analytically. The BHL equation is well known to have inﬁnitely many solutions. Traditionally, the accretion radius has been assumed to be 2 GM /v 2 ∞ , but its mathematical foundation has not been clariﬁed because of the non-uniqueness of the solution. Here, we assume that the solution curves possess physically nice characteristics, i.e. velocity and line mass-density increase monotonically with radial distance. This condition restricts the accretion radius to the range ( 0 . 71 − 1 . 0 ) × 2 GM /v 2 ∞ . Further assumptions, speciﬁcally, that the solution curves for velocity and line mass-density are convex upward, restrict the accretion radius to ( 0 . 84 − 0 . 94 ) × 2 GM /v 2 ∞ , and 0 . 90 × 2 GM /v 2 ∞ , respectively. Therefore, we conclude that the accretion radius is almost uniquely determined to be 0 . 90 × 2 GM /v 2 ∞ .
Gahvora cradling in Tajikistan: Cultural practices and associations with motor development.

In Tajikistan, infants are bound supine in a "gahvora" cradle that severely restricts movement. Does cradling affect motor development and body growth? In three studies (2013-2018), we investigated associations between time in the gahvora (within days and across age) and motor skills and flattened head dimensions in 8-24-month-old Tajik infants (N = 269, 133 girls, 136 boys)) and 4.3-5.1-year-old children (N = 91, 53 girls, 38 boys). Infants had later motor onset ages relative to World Health Organization standards and pronounced brachycephaly; cradling predicted walk onset age and the proficiency of sitting, crawling, and walking. By 4-5 years, children's motor skills were comparable with US norms. Cultural differences in early experiences offer a unique lens onto developmental processes and equifinality in development.
Approximation algorithms for the shortest superstring problem

Given a collection of strings $S=\{s\sb1,\dot,s\sb{n}\}$ over an alphabet $\Sigma$, a superstring $\alpha$ of S is a string containing each $s\sb{i}$ as a substring; that is, for each $i,\ 1\leq i\leq n,\ \alpha$ contains a block of $\vert s\sb{i}\vert$ consecutive characters that match $s\sb{i}$ exactly. The shortest superstring problem is the problem of finding a superstring $\alpha$ of minimum length. The shortest superstring problem has applications in both data compression and computational biology. In data compression, the problem is a part of a general model of string compression proposed by Gallant, Maier and Storer (JCSS '80). Much of the recent interest in the problem is due to its application to DNA sequence assembly. The problem has been shown to be NP-hard; in fact, it was recently shown by Blum et al. (JACM '94) to be MAX SNP-hard. The first O(1)-approximation was also due to Blum et al., who gave an algorithm that always returns a superstring no more than 3 times the length of an optimal solution. We present two algorithms for the shortest superstring problem. The first, S scHORTS scTRING, achieves an approximation ratio of 2$3\over4$ and runs in $O(\vert\vert S\vert\vert+n\sp3$) time. The second, G-S scHORTS scTRING, achieves a ratio of 2$2\over3$; G-S scHORTS scTRING runs in polynomial time, but we have not yet been able to give an implementation as efficient as that of S scHORTS scTRING. We have developed tools and techniques which we believe to be of interest independent of these particular results. We show that in order to obtain a worst-case approximation ratio better than 3, it is sufficient to consider certain classes of strings which are periodic, and which in fact have multiple periods. We prove strong structural properties of some of these classes of strings, upon which we base our algorithms and analysis.
A New Class of Generalized Thompson's Groups and Their Normal Subgroups

For a given group G and a homomorphism ϕ: G → G × G, we construct groups ℱϕ(G), 𝒯ϕ(G), and 𝒱ϕ(G) that blend Thompson's groups F, T, and V with G, respectively. Furthermore, we describe the lattice of normal subgroups of the groups ℱΔ(G), where Δ: G → G × G is the diagonal homomorphism, Δ(g) = (g, g).
Error-Triggered Adaptive Sparse Identification for Predictive Control and Its Application to Multiple Operating Conditions Processes

With the digital transformation of process manufacturing, identifying the system model from process data and then applying to predictive control has become the most dominant approach in process control. However, the controlled plant often operates under changing operating conditions. What is more, there are often unknown operating conditions such as first appearance operating conditions, which make traditional predictive control methods based on identified model difficult to adapt to changing operating conditions. Moreover, the control accuracy is low during operating condition switching. To solve these problems, this article proposes an error-triggered adaptive sparse identification for predictive control (ETASI4PC) method. Specifically, an initial model is established based on sparse identification. Then, a prediction error-triggered mechanism is proposed to monitor operating condition changes in real time. Next, the previously identified model is updated with the fewest modifications by identifying parameter change, structural change, and combination of changes in the dynamical equations, thus achieving precise control to multiple operating conditions. Considering the problem of low control accuracy during the operating condition switching, a novel elastic feedback correction strategy is proposed to significantly improve the control accuracy in the transition period and ensure accurate control under full operating conditions. To verify the superiority of the proposed method, a numerical simulation case and a continuous stirred tank reactor (CSTR) case are designed. Compared with some state-of-the-art methods, the proposed method can rapidly adapt to frequent changes in operating conditions, and it can achieve real-time control effects even for unknown operating conditions such as first appearance operating conditions.
On the Frame-Error Rate of Concatenated

Turbo codes with long frame lengths are usually constructed using a randomly chosen interleaver. Statistically, this guarantees excellent bit-error rate (BER) performance but also generates a certain number of low weight codewords, resulting in the appearance of an error floor in the BER curve. Several methods, including using an outer code, have been proposed to improve the error floor region of the BER curve. In this paper we study the effect of an outer BCH code on the frame-error rate (FER) of turbo codes. We show that additional coding gain is possible not only in the error floor region but also in the waterfall region. Also, the outer code improves the iterative APP decoder by providing a stopping criterion and alleviating convergence problems. With this method, we obtain codes whose performance is within 0.6 dB of the sphere packing bound at an FER of 10 .
Liquidity Provision, Ambiguous Asset Returns and the Financial Crisis

For an economy with dysfunctional intertemporal financial markets the financial sector is modelled as a competitive banking sector offering deposit contracts. In a setting related to Allen and Gale (JoF, 1998) properties of the optimal liquidity provision are analyzed for illiquid assets with ambiguous returns.In the context of our model, ambiguity -- i.e. incalculable risk -- leads to dynamically inconsistent investor behaviour. If the financial sector fails to recognize the presence of ambiguity, unanticipated fundamental crises may occur, which are incorrectly blamed on investors 'loosing their nerves' and 'panicing'. The basic mechanism of the Financial Crisis resembles the liquidation of illiquid assets during a banking panic. The combination of providing additional liquidity and supporting distressed financial institutions implements the regulatory policy suggested by the model.A credible commitment to such 'bail-out policy' does not create a moral hazard problem. Rather, it implements the second best efficient outcome by discouraging excessive caution. Reducing ambiguity by increasing stability, transparency and predictability -- as suggested by ordo-liberalism and the 'Freiburger Schule' -- enhances ex-ante welfare.
A Detailed Analysis of Film–Cooling Physics: Part I — Streamwise Injection With Cylindrical Holes

A previously documented systematic computational methodology is implemented and applied to a jet–in–crossflow problem in order to document all of the pertinent flow physics associated with a film–cooling flowfield. Numerical results are compared to experimental data for the case of a row of three–dimensional, inclined jets with length–to–diameter ratios similar to a realistic film–cooling application. A novel vorticity based approach is included in the analysis of the flow physics. Particular attention has been paid to the downstream coolant structures and to the source and influence of counter–rotating vortices in the crossflow region. It is shown that the vorticity in the boundary layers within the film hole is primarily responsible for this secondary motion. Important aspects of the study include: (1) a systematic treatment of the key numerical issues, including accurate computational modeling of the physical problem, exact geometry and high quality grid generation techniques, higher–order numerical discretization, and accurate evaluation of turbulence model performance; (2) vorticity–based analysis and documentation of the physical mechanisms of jet–crossflow interaction and their influence on film–cooling performance; (3) a comparison of computational results to experimental data; and (4) comparison of results using a two–layer model near–wall treatment versus generalized wall functions. Solution of the steady, time–averaged Navier–Stokes equations were obtained for all cases using an unstructured/adaptive grid, fully explicit, time–marching code with multi–grid, local time stepping, and residual smoothing acceleration techniques. For the case using the two–layer model, the solution was obtained with an implicit, pressure–correction solver with multi–grid. The three–dimensional test case was examined for two different film–hole length–to–diameter ratios of 1.75 and 3.5, and three different blowing ratios, from 0.5 to 2.0. All of the simulations had a density ratio of 2.0, and an injection angle of 35°. An improved understanding of the flow physics has provided insight into future advances to film–cooling configuration design. In addition, the advantages and disadvantages of the two–layer turbulence model are highlighted for this class of problems.Copyright © 1997 by ASME
Emotional tones of voice affect the acoustics and perception of Mandarin tones

Lexical tones and emotions are conveyed by a similar set of acoustic parameters; therefore, listeners of tonal languages face the challenge of processing lexical tones and emotions in the acoustic signal concurrently. This study examined how emotions affect the acoustics and perception of Mandarin tones. In Experiment 1, Mandarin tones were produced by professional actors with angry, fear, happy, sad, and neutral tones of voice. Acoustic analyses on mean F0, F0 range, mean amplitude, and duration were conducted on syllables excised from a carrier phrase. The results showed that emotions affect Mandarin tone acoustics to different degrees depending on specific Mandarin tones and specific emotions. In Experiment 2, selected syllables from Experiment 1 were presented in isolation or in context. Listeners were asked to identify the Mandarin tones and emotions of the syllables. The results showed that emotions affect Mandarin tone identification to a greater extent than Mandarin tones affect emotion recognition. Both Mandarin tones and emotions were identified more accurately in syllables presented with the carrier phrase, but the carrier phrase affected Mandarin tone identification and emotion recognition to different degrees. These findings suggest that lexical tones and emotions interact in complex but systematic ways.
From Tools to Theories: How Different Methodologies May Impact Theory Development in Brand Relationship Research

SESSION OVERVIEW The topic of brand loyalty and brand relationship has been explored extensively in the consumer behavior literature for a number of years, and continues to be a vital research area in consumer behavior. Much of this work has concentrated on theory development regarding the nature of the brand-consumer relationship (e.g. Aaker, 1997, Kressman, et. al., 2006, Yoon, 2006). Crucial to furtherance of this understanding is the development of reliable and valid methods for assessing the relationship of consumer to brand. As suggested by Gigerenzer (1991), the emergence of cognitive theories is strongly influenced by the research tools available to theorist. In essence, different methodologies lead to different theories. Over the past twenty years the field of consumer behavior has witnessed an astounding proliferation of data collection and analytical methodologies, and it is certainly difficult to argue against the assertion that this proliferation has influenced the course of theory development. Presumably, it is this proliferation of both methodologies and theories that makes the theme of the conference, building bridges, so appropriate. In this spirit, this session intends to present several methodological approaches to brand relationships with the overall objective of exploring the impact these different approaches may have on theory development. The session includes 1) research that utilizes depth interviews and structural equation modeling to develop a consumer brand-identification scale; 2) a set of studies that leverage qualitative depth interviews to develop a structural equation model of brand love, and 3) a videographic exploration of consumer-brand relationship that seeks to provide insight as to the influence of functional and emotional elements of brand relationships. While each paper is of course interesting in its own right, the key contribution of this symposium is the opportunity to present and discuss these different methodological approaches in light of their likely influence on theory development in the area of brand loyalty in a single session.
SIDE CHANNEL ATTACKS ON ELLIPTIC CURVE CRYPTOSYSTEMS

Acknowledgements I would like to express my deep appreciation to my supervisor Prof. Tsuyoshi Takagi for his guidance, review, suggestions, kindness, valuable time, criticisms, and comments throughout my study. I am most grateful to Dr. Katsuyuki Okeya for guiding me with his strong experience during my internship at Hitachi, Japan. A special note of thanks goes to Masuyuki Yoshino, Fumio Ohta and Hiro-taka Yoshida for their kind assistance in many ways. I would like to dedicate this work to the memory of Prof. Patrice Jannel. I wish he was still with us and kept on promoting the Erasmus program between the Ecole Centrale de Lyon and the technische Universität Darmstadt with the great success that he had. Finally, my love goes to my family for helping me accomplish this thesis. Thanks to my father, Jean-Pierre, my mother, Annick, my sister, Julia and my brother Baptiste. Abstract Cryptography becomes our invisible companion. With the rise of electronic commerce , the rapid development of wireless communications, the announcement of the ubiquitous computing era, none can predict how strong our dependence on security will be in the future. Asymmetric cryptosystems seem to be the appropriate response to wide-scale secure communications, unfortunately, they are often not suitable for an implementation on memory-constrained devices equipped with low-end processors. However, it is expected that such " intelligent " devices will soon invade our daily lives. Thus, in order to maintain a cheap price and still not compromise their security, it is crucial to search for fast and secure asymmetric cryptosystems. Aside from standard algebraic attacks, which are not a threat with a good choice of parameters for the cryptosystem, side channel attacks are particularly effective for breaking the cryptography running on embedded devices. This powerful class of attacks exploits the information leakage through side channels such as timings or power consumption. Elliptic curve cryptosystems have the enormous advantage to consume only few memory and require few computing power. However, side channel attacks can break their common implementations. Finding countermeasures against side channel attacks on elliptic curve is a very active research theme. In this thesis, we review side channel attacks on elliptic curves as well as their countermeasures. In particular, we analyze the security of a very attractive countermeasure against side channel attacks: OT scheme. Thanks to its superior flexibility, OT scheme is very unique and well-suited for the implementation of elliptic curve cryptosystems on devices, …
Argumentation Schemes for Statutory Interpretation

In this paper it is shown how defeasible argumentation schemes can be used to represent the logical structure of the thirteen types of ar- guments recognized as important for statutory interpretation by (Tarello 1980). It is shown that the process of statutory interpretation has a distinctive argumentative structure where the conclusion, namely, the meaning attributed to a legal source, is a claim that needs to be sup- ported by pro and contra defeasible arguments. This transformation of the arguments of interpretation into the argumentation schemes frame- work is applied to the psychological and the a contrario arguments, as leading examples to follow. The defeasible nature of each scheme is shown by means of critical questions, which identify the default conditions for the accepting interpretative arguments and provide a method for evalu- ating a given argument as weak or strong.
Implementing theorem proving in GeoGebra by using a Singular webservice

We describe ongoing work on the implementation of a webservice allowing the remote use of Singular, a computer algebra system for polynomial computations. Our goal consists of enhancing GeoGebra, a dynamic geometry environment, with new algebraic abilities mainly related to automatic discovery and checking. 1. Polynomial computations for GeoGebra through Singular GeoGebra [9] is a widely known education software for teaching elementary geometry. Its intuitive, multilingual user interface is an important argument for most teachers who choose mathematics software for illustrating geometry, and using them to help the students in discovering mathematics. Using GeoGebra as an input interface to decide geometric statements has already a wide interest in the mathematics education community. A recent approach is to use GeoGebra for de ning geometric constructions and forwarding the construction data for further investigation to Sage, researched and programmed by Abánades and Botana [1]. Sage uses e cient algorithms to solve computations for equations, or more precisely, polynomials and ideals, namely for calculating Gröbner bases or saturation. While Sage can choose from several underlying computer algebra systems to forward the problem to, it is known that the best results can usually be obtained by the Singular [3] subsystem, developed by the Technical University of Kaiserslautern, Germany. Singular o ers the most recent Gröbner basis algorithms, including Faugère's F5 method [4]. Such e cient algorithms are indeeed required for several problems in the elementary geometry as well, to get the result within a reasonable time. Due to a recent benchmark, Sage (based on Singular) computes very e ciently the proof for several theorems in elementary geometry [10]. Sage has a convenient Python-like interface for programming, and it is very good at converting the input data structures into the special data structures for the various computer algebra systems. But for an interactive system like GeoGebra there is still an overhead for interpreting the input and converting them to the required format, if Sage is used. A possible shortcut is to use Singular directly from GeoGebra. The problem is that Singular cannot be used as a built-in system from GeoGebra (since Singular is written C++, but GeoGebra is a Java application), and it is also inconvenient for a user to install it on her workstation. Our approach is to create a standalone Singular webservice which can be accessed from any workstation connected to the Internet. A suitable application programming interface (API) will also be designed to access the required Singular routines, and get the answer back in a useful form. This outsourced system can be installed and hosted by a school, a Partially supported by grants MTM2008-M04699-C03-03 and MTM2011-25816-C02-02.
Polychlorinated dibenzo-p-dioxins, dibenzofurans and dioxin-like polychlorinated biphenyls in bivalve molluscs. Risk to Polish consumers?

Abstract Introduction Concentrations of polychlorinated dibenzo-p-dioxins and polychlorinated dibenzofurans (PCDD/Fs) and dioxin-like polychlorinated biphenyls (DL-PCBs) were investigated in six species of bivalve mollusc purchased on the Polish retail market. The risk to consumers was calculated as a percentage of the tolerable weekly intake (TWI) (2 pg World Health Organization toxic equivalent (WHO-TEQ) kg−1 body weight (b.w.)). Material and Methods Altogether 32 samples were analysed using an isotope dilution technique with high resolution gas chromatography coupled with high resolution mass spectrometry. Results Low levels of all analysed compounds were found. The range of PCDD/Fs was 0.08–0.37 pg WHO-TEQ g−1 of wet weight (w.w.) and 0.04–0.41 pg WHO-TEQ g−1 w.w. for DL-PCBs. The highest concentrations of all analysed compounds were found in Pacific oysters, at 0.30 pg WHO-TEQ g−1 w.w. for the sum of PCDD/Fs and 0.19 pg WHO-TEQ g−1 for the sum of DL-PCBs. These concentrations were 2–4 times higher than those detected in the other analysed mollusc species. Different species-dependent congener profiles were observed for PCDD/F concentrations, while PCB congener concentration profiles were species independent. The risk to consumers was assessed relating theoretical intakes of PCDD/Fs and DL-PCBs per 25, 50 and 100 g of consumption of molluscs per week to the TWI. Conclusion Taking into account the low consumption of molluscs in Poland and low concentrations of analysed compounds, neither adults nor children are likely to exceed the TWI by ingestion of food in this category.