Miracle-dz/UniFAR-FTUs huggingface dataset:
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

Background and Objectives The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the ANO10 gene. Little is known about the molecular role of ANO10 or its role in disease. There is a wide phenotypic spectrum among patients, even among those with the same or similar genetic variants. This study aimed to characterize the molecular consequences of variants in ANO10 and determine their pathologic significance in patients diagnosed with SCAR10. Methods We presented 4 patients from 4 families diagnosed with spinocerebellar ataxia with potential pathogenic variants in the ANO10 gene. Patients underwent either clinical whole-exome sequencing or screening of a panel of known neuromuscular disease genes. Effects on splicing were studied using reverse transcriptase PCR to analyze complementary DNA. Western blots were used to examine protein expression. Results One individual who presented clinically at a much earlier age than typical was homozygous for an ANO10 variant (c.1864A > G [p.Met622Val]) that produces 2 transcription products by altering an exonic enhancer site. Two patients, both of Lebanese descent, had a homozygous intronic splicing variant in ANO10 (c.1163-9A > G) that introduced a cryptic splice site acceptor, producing 2 alternative transcription products and no detectable wild-type protein. Both these variants have not yet been associated with SCAR10. The remaining patient was found to have compound heterozygous variants in ANO10 previously associated with SCAR10 (c.132dupA [p.Asp45Argfs*9] and c.1537T > C [p.Cys513Arg]). Discussion We presented rare pathogenic variants adding to the growing list of ANO10 variants associated with SCAR10. In addition, we described an individual with a much earlier age at onset than usually associated with ANO10 variants. This expands the phenotypic and allelic heterogeneity of ANO10-associated ARCA.
Assessing Metabolic Markers in Glioblastoma Using Machine Learning: A Systematic Review

Glioblastoma (GBM) is a common and deadly brain tumor with late diagnoses and poor prognoses. Machine learning (ML) is an emerging tool that can create highly accurate diagnostic and prognostic prediction models. This paper aimed to systematically search the literature on ML for GBM metabolism and assess recent advancements. A literature search was performed using predetermined search terms. Articles describing the use of an ML algorithm for GBM metabolism were included. Ten studies met the inclusion criteria for analysis: diagnostic (n = 3, 30%), prognostic (n = 6, 60%), or both (n = 1, 10%). Most studies analyzed data from multiple databases, while 50% (n = 5) included additional original samples. At least 2536 data samples were run through an ML algorithm. Twenty-seven ML algorithms were recorded with a mean of 2.8 algorithms per study. Algorithms were supervised (n = 24, 89%), unsupervised (n = 3, 11%), continuous (n = 19, 70%), or categorical (n = 8, 30%). The mean reported accuracy and AUC of ROC were 95.63% and 0.779, respectively. One hundred six metabolic markers were identified, but only EMP3 was reported in multiple studies. Many studies have identified potential biomarkers for GBM diagnosis and prognostication. These algorithms show promise; however, a consensus on even a handful of biomarkers has not yet been made.
Symbolic Representation and Toolkit Development of Iterated Error-State Extended Kalman Filters on Manifolds

Error-state extended Kalman filter (ESEKF) is one of the extensively used filtering techniques in robot systems. There are many works that cast ESEKF on manifolds to improve consistency. However, most of these works are designed case by case, which makes it difficult to extend to new manifolds. In this article, we propose a generic method to formulate the iterated error-state extended Kalman filter (IESEKF) on manifolds, which aims to facilitate the deployment of IESEKF for on-manifold systems (e.g., lidar-inertial and visual-inertial systems). First, a canonical on-manifold representation of the robot system is proposed, based on which, an on-manifold IESEKF framework is formulated and solved by linearization at each estimation point. The proposed framework has two main advantages, one is that an equivalent error-state system is derived from linearization, which is minimally parameterized without any singularities in practice. And the other is that in each step of IESEKF, the manifold constraints are decoupled from the system behaviors, ultimately leading to a generic and symbolic IESEKF framework that naturally evolving on manifolds. Based on the separation of manifold constraints from the system behaviors, the on-manifold IESEKF is implemented as a toolkit in C++ packages, with which the user needs only to provide the system-specific descriptions, and then call the respective filter steps (e.g., predict, update) without dealing with any manifold constraints. The existing implementation supports full iterated Kalman filtering for versatile systems on manifold $\mathcal {M} = \mathbb {R}^{m}\! \times SO(3)\! \times \! \cdots \! \times \! SO(3)\! \times \! SE_{N}(3)\! \times \! \cdots \! \times \! SE_{N}(3)\! \times \mathbb {S}^{2} \times \cdots \times \mathbb {S}^{2}$ or any of its submanifolds, and is extendable to other types of manifold when necessary. The proposed symbolic IESEKF and the developed toolkit are verified by implementing two filter-based tightly coupled lidar-inertial navigation systems. Results show that, while greatly facilitating the EKF deployment, the developed toolkit leads to estimation performances and computation efficiency comparable to hand-engineered counterparts. Finally, the toolkit is open-sourced at https://github.com/hku-mars/IKFoM. The aimed application is the real-time state estimation of dynamic systems (e.g., robots) whose states are evolving on manifolds.
Electrical properties of antimony sulphoiodide (SbSI) thin films

Abstract Electrical conduction in Ferroelectrics has several special features which are primarily associated with polarization, phase transitions and domain structures. The majority of the reported works on conduction processes in ferroelectrics have been confined to either room temperature or above. There is very little reported data available on low temperature conduction processes in ferroelectrics probably due to the high impedance of the samples. However, Ferroelectrics in thin film form can provide an ideal alternative due to their relatively low impedance. In this paper, we report the electrical properties of SbSI thin films. The investigations were performed interms of dc conductivity and thermoelectric power in the temperature range 80–400K and 300–450K respectively on a large number of films with various thicknesses in the range of 0. 3μm to 1. 0μm. SbSI was chosen as the ferroelectric material due to its several interesting ferroelectric and semiconducting properties and also due to its convenien.
The Predictive Role of Quantity and Quality Language-Exposure Measures for L1 and L2 Vocabulary Production among Immigrant Preschoolers in Italy

In this study, we investigated the lexical ability in L1 and L2 of 60 immigrant children who were 37 to 62 months old and exposed to minority languages (L1) and Italian (L2). Using the MacArthur–Bates Communicative Development Inventories, we measured children’s vocabulary production in L1 and L2. From interviews, we collected data on quantitative language exposure (parental input, child output, length of exposure to L2 at preschool, and parental oral fluency) and qualitative home-language exposure (HLE) practices (active, play, and passive) in L1 and L2. We conducted stepwise regression analyses to explore which factors predicted children’s vocabulary production in L1 and L2. The child’s chronological age and parental education were not predictors of vocabulary production. L2 parental input, L1 child output, and L1 HLE-active practices explained 42% of the variance in children’s L1 vocabulary production. L2 child output and L2 HLE-active practices explained 47% of the variance in children’s L2 vocabulary production, whereas length of L2 exposure in preschool was a predictor only when we included quantitative language-exposure factors in the model. The effects of the quantity and quality of language exposure on lexical ability among preschool immigrant children are discussed.
Sea Surface Wind Structure in the Outer Region of Tropical Cyclones Observed by Wave Gliders

Understanding the sea surface wind structure during tropical cyclones (TCs) is the key for study of ocean response and parameterization of air‐sea surface in numerical simulation. However, field observations are scarce. In 2019, three wave gliders were deployed in the South China Sea and the adjacent Western Pacific region, which acquired sea surface wind structure of eight TCs. Analysis of the field data suggests that the wave glider‐observed surface winds are consistent with most analysis/reanalysis data (i.e., ERA5, Cross‐Calibrated Multi‐Platform, and National Centers for Environmental Prediction‐Global Data Assimilation System) and Soil Moisture Active Passive. Both wave glider observations and analysis/reanalysis data indicate that TC wind fields induce an obvious increase in speed toward the sea surface together with a sharp change in direction, showing an asymmetric wind structure which is sensitive to TC translation speed and intensity. Larger mean values of wind speed and inflow angle are located on the right side along TC tracks. The inflow angle shows a highly dynamic dependence on the radial distance from the TC center, the TC intensity, as well as the TC‐relative azimuth. Comparisons between field observations and theoretical models indicate that the most widely used, ideal TC wind profile models can largely represent the observed sea surface wind structure, but generally underestimate the wind speed due to lack of consideration of background wind. Moreover, simple ideal models (e.g., the modified Rankine vortex model) may outperform complex models when accurate information of TCs is limited. Wave glider observations have potential for better understanding of air‐sea exchanges and for improvements of the corresponding parameterization schemes.
Spatiotemporal Distribution of Photographic Records of Brazilian Birds Available in the WikiAves Citizen Science Database

About four million photographic records of Brazilian birds are deposited in the WikiAves database. The objective of this study was to examine the spatiotemporal distribution of photographic records available in this database. Searches were performed in the database in 2022. Record numbers produced by citizens were obtained by selecting states and municipalities in different periods. The annual record production in Brazil has increased substantially since 2009, reaching about 400,000 records per year in 2020–2021. Most records were obtained in the Sudeste and Sul geopolitical regions. Seasonal variations in record production in the Cerrado and the Atlantic Forest are comparable, with more records obtained in July–October. In Amazonia, a more substantial decrease in record production occurred between November and April. The monthly record production was more uniform in the Caatinga. When municipalities were compared, similar seasonal variation in record production was observed for four ecosystems (Amazonia, Atlantic Forest, Cerrado and Pampa). However, substantial differences were observed for municipalities in the Pantanal and the Caatinga. The results indicate that high human density, high individual income and the breeding season of birds are potential factors leading to high record production. On the other hand, heavy rainfall, flooding, remoteness and environmental harshness are pointed out as factors potentially leading to relatively fewer records. Further, this article discusses the implications of record availability for ornithological studies that use photographic records deposited in the WikiAves database.
On the Galois Actions on Torsors of Paths I, Descent of Galois Representations

We are studying representations obtained from ac- tions of Galois groups on torsors of paths on a projective line minus a finite number of points. Using these actions on torsors of paths, we construct geometrically representations of Galois groups which re- alize � -adically the associated graded Lie algebra of the fundamental group of the tannakian category of mixed Tate motives over SpecZ, Spec Z(i), Spec Z( 1 ), Spec OQ( √ −q) for any prime number q (q � in the last case) and over Spec O Q( √ −q) ( 1 ) for any prime number q congruent to 3 modulo 4 and also for q =2 .
A Least Squares Correction for Selectivity Bias

WHEN ESTIMATING REGRESSION MODELS it is very nearly always assumed that the sample is random. The recent literature has begun to deal with the problems which arise when estimating a regression model with samples which may not be random. The most general case in which one only has access to a single nonrandom sample has not been addressed since it is a very imposing problem. The case which has been addressed starts with a random sample but considers the problem of missing values for the dependent variable of a regression. If the determination of which values are to be observed is related to the unobservable error term in the regression, then methods such as ordinary least squares are in general inappropriate. By constructing a joint model which represents both the regression model to be estimated and the process determining when the dependent variable is to be observed, some progress can be made towards taking into account nonrandomness for the observed values of the dependent variable. The actual techniques employed fall into two rough groups, full information maximum likelihood models, and limited information methods which are more easily estimated. In the full information category are two methods. One model combines the probit and the normal regression models, and the other combines the Tobit or limited dependent variable model with the normal regression model. The form of the probit regression model is
Unstable sixth-order thin film equation: I. Blow-up similarity solutions

We study blow-up behaviour of solutions of the sixth-order thin film equation containing an unstable (backward parabolic) second-order term. By a formal matched expansion technique, we show that, for the first critical exponent where N is the space dimension, the free-boundary problem (FBP) with zero-height, zero-contact-angle, zero-moment, and zero-flux conditions at the interface admits a countable set of continuous branches of radially symmetric self-similar blow-up solutions where T > 0 is the blow-up time. We also study the Cauchy problem (CP) in RN × R+ and show that the corresponding self-similar family {uk(x, t)} is countable and consists of solutions of maximal regularity, which are oscillatory near the interfaces. Actually, we show that compactly supported oscillatory blow-up profiles for the CP exist for all n ∊ (0, nh), where is a heteroclinic bifurcation point for the ordinary differential equation involved. The FBP ceases to exist before, at .
Commensurability classes of arithmetic Kleinian groups and their Fuchsian subgroups

Arithmetic Fuchsian and Kleinian groups can all be obtained from quaternion algebras (see [2,12]). In a series of papers ([8,9,10,11]), Takeuchi investigated and characterized arithmetic Fuchsian groups among all Fuchsian groups of finite covolume, in terms of the traces of the elements in the group. His methods are readily adaptable to Kleinian groups, and we obtain a similar characterization of arithmetic Kleinian groups in §3. Commensurability classes of Kleinian groups of finite co-volume are discussed in [2] and it is shown there that the arithmetic groups can be characterized as those having dense commensurability subgroup. Here the wide commensurability classes of arithmetic Kleinian groups are shown to be approximately in one-to-one correspondence with the isomorphism classes of the corresponding quaternion algebras (Theorem 2) and it easily follows that there are infinitely many wide commensurability classes of cocompact Kleinian groups, and hence of compact hyperbolic 3-manifolds.
The energy and elastic dipole tensor of defects in ionic crystals calculated by the supercell method

The energy, the elastic dipole tensor and the entropy of point defects in ionic crystals are usually calculated by the Mott-Littleton approach, which treats a single defect in an infinite crystal. The authors suggest that there may be advantages, particularly for the dipole tensor and the entropy, in performing the calculations in periodically repeating geometry. They examine how this 'supercell' method can be used for the energy and the dipole tensor, paying attention to the problem that for charged defects the repeating unit carries a net charge, so that the Coulomb energy is divergent. They test the supercell method on a number of both charged and uncharged defects, and show that the results for the energy and dipole tensor are in close agreement with those obtained by the conventional approach.
A Corrected Model of Explanation

The following suggestions for revising the formal model of deductive scientific explanation proposed in [1] are the result of several discussions between the present authors. Stenner discovered the first counter-examples to the proposals of [1]. Various criticisms of extant models and intuitive considerations underlying the proposed model which appear in [1] will be assumed in this note. Briefly, the contention of [1] is that the extant models are too restrictive. No reasonable extant model, for example, can sanction explanations whose explananda are generalizations requiring formalization in the first order predicate calculus. The motivation behind the proposed model in [1] is a search for some less restrictive model. Unfortunately, while the model of [1] did handle a number of troublesome formalized inferences involving quantification satisfactorily, it turns out to exclude the most paradigmatic examples of explanation exhibited in the literature. There are two straightforward examples involving conditions TS) and T6) as stated in [1]. In order to avoid brooding over the defects of [1], these examples will only be sketched. The following form is usually taken as explanatory:
Impending Chemotherapeutic Impact of Arthrospira platensis Nanoparticles and/or Sorafenib against Hepatocellular Carcinoma through Modulation of Antioxidant Status, Tumor Marker Genes, and Anti-Inflammatory Signaling Pathways

This study investigated Arthrospira platensis nanoparticles (NSP) to overcome sorafenib resistance in diethyl nitrosamine-induced hepatocellular carcinoma (HCC) in rats. This study used sixty Wistar male rats randomly grouped into two main groups, the normal control group, and the HCC model. For the normal control group (n = 12), animals were injected i.p. with PBS two times/week for 16 weeks. The remaining 48 rats were injected i.p. with using a single dose of diethyl nitrosamine (DENA) (200 mg/kg, ip), followed by phenobarbital sodium (0.05%) in drinking water for 16 weeks. At the end of the 16th week, rats were allocated into four groups (11 rats/each), one group was left without treatment (DENA group), and the other three groups were treated with either sorafenib (30 mg/kg; p.o.) or Arthrospira platensis Nanoparticles (NSP) (0.5 mg/kg body weight) once daily orally with the aid of gastric gavage or their combination for another four weeks. Blood and tissue samples were collected for further biochemical, histological, immunohistochemical, and gene expression analysis. Our result revealed that DENA-treated rats showed a marked elevation of hepatic enzyme markers with an increase in the total protein and globulin and decreases in the hepatic SOD. Catalase and GSH, with significantly increased MDA levels, subsequently increased the tumor biomarkers (AFP and CEA). On the molecular level, the DENA-treated rats showed significant up-regulation of Cyp19 mRNA and the inflammatory cytokines (TNF-α, iNOS, and TGF-1β) as well as the Ki-67 gene expression (p < 0.05) with down-regulation of the PPAR-γ and FOXO-1. In addition, the HCC group showed a loss of hepatic architecture, as well as atypia, swelling, macrosteatosis of hepatocytes, and fibrosis, besides increased vascularization. The immunohistochemical findings show increased expression of both GPC-3 and Hep Par 1 in the HCC group. SOR, NSP, or a combination of NSP and SOR.NSP treatment significantly overturned the DENA’s harmful effect near the normal levels and restored all cancer biomarkers and antioxidant activities, indicating the chemotherapeutic impact of NSP. The present study provides evidence that NSP exerts a major anticancer effect on DENA-induced HCC. SOR/NSP is a promising combination for tumor suppression and overcoming sorafenib resistance in HCC by modulating antioxidants, anti-inflammatory signals, and tumor markers.
DAMAGE DETECTION USING OUTLIER ANALYSIS

Abstract This paper constitutes a study of a statistical method for damage detection. The lowest level of fault detection is considered so that the methods are simply required to signal deviations from normal condition; i.e., the problem is one of novelty detection. In this paper, the concept of discordancy from the statistical discipline of outlier analysis is used to signal deviance from the norm. The method is demonstrated on four case studies of engineering interest: one simulation, two pseudo-experimental and one experimental.
Instabilities in boundary-layer flows on a curved surface

Recent theoretical findings show that the curvature of streamsurfaces naturally warping in the crossflow direction of a three-dimensional boundary layer can maintain centrifugal forces, provoking unsteady short-scaled vortices. The wave/vortex eigenmode coupling takes place in the linear stage of disturbance evolution and results in streamwise absolute instability. The two-dimensional flow past a curved cylindrical surface under consideration here provides an example where centrifugal forces are associated with the fixed curvature of a solid wall bending in the direction of the main stream. The spiral-type Görtler vortices develop in proximity to the surface and their interaction with the Tollmien–Schlichting eigenmodes creates a mechanism driving disturbances both downstream and upstream of a perturbing agency. The vortex eigenmodes arising from centrifugal forces are balanced out by the normal-to-wall pressure gradient. Some higher-order terms need to be kept in its expansion to achieve the modal coupling. As a consequence, a side band appears in the spectra of eigen-frequencies and wavenumbers featuring the classical triple-deck scheme. The extended composite asymptotic model proves to be self-consistent, with the Cauchy problem well-posed in the limit of large Reynolds numbers. It follows from the extended model that the boundary layer on a concave surface, much like the one with crossflow, suffers absolute instability in the streamwise direction. This unusual property may lead to earlier transition or, conversely, be exploited to artificially excite the nonlinear vortex structures with delayed transition.