Miracle-dz/UniFAR-FTUs huggingface dataset:
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene

Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes. Type IX collagen is a heterotrimeric molecule formed by three genetically distinct chains: α1, α2, and α3 encoded by the COL9A1, COL9A2, and COL9A3 genes. Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an intervertebral disc disease, and (3) hearing loss. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis. © 2013 Wiley Periodicals, Inc.
Pruning algorithms-a survey

A rule of thumb for obtaining good generalization in systems trained by examples is that one should use the smallest system that will fit the data. Unfortunately, it usually is not obvious what size is best; a system that is too small will not be able to learn the data while one that is just big enough may learn very slowly and be very sensitive to initial conditions and learning parameters. This paper is a survey of neural network pruning algorithms. The approach taken by the methods described here is to train a network that is larger than necessary and then remove the parts that are not needed.
Immunological investigation of the distribution of cytochromes related to the two terminal oxidases of Escherichia coli in other gram-negative bacteria

Monospecific antibodies were raised against the two terminal oxidase complexes of the aerobic respiratory chain of Escherichia coli. These are the cytochrome d and cytochrome o complexes. The antibodies were used to check for the occurrence of cross-reactive antigens in membrane preparations from a variety of gram-negative bacteria by rocket immunoelectrophoresis and immunoblotting techniques. With these criteria, proteins closely related to the cytochrome d complex of E. coli appeared to be widely distributed. Among the strains containing cytochrome d-related material were Serratia marcescens, Photobacterium phosphoreum, Salmonella typhimurium, Klebsiella pneumoniae, and Azotobacter vinelandii. The data suggest that the d-type terminal oxidase in many of these strains is associated in a complex with b-type and a1-type cytochromes, as has been found to be the case in E. coli. K. pneumoniae and S. typhimurium were also shown to have material cross-reactive to the E. coli cytochrome o complex.
Performance Evaluation on Machine Learning Classification Techniques for Disease Classification and Forecasting through Data Analytics for Chronic Kidney Disease (CKD)

Chronic Kidney Disease (CKD) is considered as kidney damage which lasts longer than three months. In Sri Lanka, CKD has become a severe problem in the present days due to CKD of unknown aetiology (CKDu) that can be seen popularly in North Central Province. Identifying CKD in the initial stage is important to provide necessary treatments to prevent or cure the disease. In this work main focus is on predicting the patient’s status of CKD or non CKD. To predict the value in machine learning classification algorithms have been used. Classification models have been built with different classification algorithms will predict the CKD and non CKD status of the patient. These models have applied on recently collected CKD dataset downloaded from the UCI repository with 400 data records and 25 attributes. Results of different models are compared. From the comparison it has been observed that the model with Multiclass Decision forest algorithm performed best with an accuracy of 99.1% for the reduced dataset with the 14 attributes.
The Concentration of Ethyl Carbamate in Commercial Ume (Prunus mume) Liqueur Products and a Method of Reducing It

The ethyl carbamate concentration of commercial ume liqueur products was studied, and a method of reducing it was examined from the viewpoint of antioxidation. The average ethyl carbamate concentration across 38 ume liqueur products was 0.12 mg/l (0.02–0.33 mg/l). When potassium metabisulfite was added to a concentration of 0–1,000 ppm during production, the generation of ethyl carbamate was reduced in a concentration-dependent manner, but when the amount of potassium metabisulfite added was below the maximum level allowed under the Japanese Food Sanitation Act, the reduction was only 27%. When ume liqueurs were produced under deoxygenated conditions created using an oxygen absorber, the ethyl carbamate concentration was reduced by up to 47% as compared with the control group, probably due mainly to a reduction in free hydrogen cyanide. When ume liqueur was produced in an oxygen atmosphere, the ethyl carbamate concentration increased by up to 50% as compared with the control group. Thus, oxygen may be involved in the generation of ethyl carbamate in ume liqueur production.
Laplacian Preconditioning for the Inverse Arnoldi Method

Many physical processes are described by elliptic or parabolic partial differential equations. For linear stability problems associated with such equations, the inverse Laplacian provides a very effective preconditioner. In addition, it is also readily available in most scientific calculations in the form of a Poisson solver or an implicit diffusive timestep. We incorporate Laplacian preconditioning into the inverse Arnoldi method, using BiCGSTAB to solve the large linear systems. Two successful implementations are described: spherical Couette flow described by the Navier-Stokes equations and Bose-Einstein condensation described by the nonlinear Schrödinger equation. AMS subject classifications: 37M20, 65F08, 65F18, 65P10, 65P30, 76E07
Improving the performance of continuous non-invasive estimation of blood pressure using ECG and PPG

Blood pressure (BP) is one of the vital signs for assessing the cardiovascular health condition of a person. In recent years, the continuous non-invasive monitoring of BP is of great interest in routine and critical bedside monitoring. Previous studies have shown that pulse transit time (PTT), time taken by the pressure wave to travel between two arterial locations can be a potential indicator of the BP changes. However, hemodynamic factors (HDF) and regulatory factors (RF) influence the changes in BP. In this paper, we propose a model considering the PTT, hemodynamic and regulatory factors derived from Photoplethysmogram (PPG) and Electrocardiogram (ECG) for the better estimation of BP compared to the baseline model using PTT alone. All experiments in this work were performed using ECG, PPG, Arterial Blood Pressure waveforms from Multi-parameter Intelligent Monitoring in Intensive Care (MIMIC) II database. BP was estimated using linear regression and its coefficients were calculated for each subject. In comparison to the baseline system using PTT alone, the system using PTT, HDF and RF as the input parameters achieves a reduction in the mean absolute error (MAE) and the root mean square error (RMSE) by 6.36% and 4.98% absolute for systolic BP and 12.28% and 28.23% absolute respectively for diastolic BP. The results suggest that the quality of BP estimation using PTT, HDF and RF is improved compared to the baseline system using PTT alone.
Foveated image watermarking

The spatial resolution of the human visual system (HVS) decreases rapidly away from the point of fixation (foveation point). By exploiting this fact, we propose a watermarking approach that embeds the watermark energy into the image periphery according to foveation-based HVS contrast thresholds. Compared to other HVS-based watermarking methods, the simulation results demonstrate an improvement in the robustness of the proposed approach against image degradations, such as JPEG compression, cropping and additive Gaussian noise, in terms of subjective measures, based on foveation. In addition, the method proposed for still images is adapted for video and the robustness of the adapted method is tested against ITU H.263+ coding.
Comparative analysis of the techniques for Sentiment Analysis

Sentiment Analysis deals with identifying and aggregating the sentiment or opinions expressed by the users. Sentiment Analysis could be carried out by techniques that may or may not use a lexicon for polarity identification. Training data set i.e. already tagged opinions may or may not be used. Some sentiment analyser could be language dependent or some could be language independent, also called as multilingual sentiment analysers. A detailed survey on different techniques used in Sentiment Analysis is carried out. These techniques are then compared on the basis of usage of lexicon, requirement of training set and language dependency. These are then summarised and analysed. General Challenges are also discussed.
Hmong Immigrants' Views on the Education of Their Deaf and Hard of Hearing Children

The study investigated the attitudes, perceptions, and feelings of parents of 7 Hmong families that included a deaf or hard of hearing child attending a U.S. public school. The findings indicate that many Hmong parents value education and want to be involved in their deaf or hard of hearing child's learning. However, the parents in the study did not know how to become involved, and needed the support of the school. Although they accepted their deaf or hard of hearing children unconditionally, they had lower academic expectations of that child than of their hearing children. Most of the parents reported limited knowledge of the policies, procedures, practices, and organizational structures of special education, and all cited communication barriers as impediments to involvement in their child's education. Most of the parents expressed strong satisfaction with their child's educational program. The findings suggest several areas for further research.
Analyse exploratoire par k-Coclustering avec Khiops CoViz

En analyse exploratoire, l'identification et la visualisation des interactions entre variables dans les grandes bases de donnees est un defi (Dhillon et al., 2003; Kolda et Sun, 2008). Nous presentons Khiops CoViz, un outil qui permet d'explorer par visualisation les relations importantes entre deux (ou plusieurs) variables, qu'elles soient categorielles et/ou numeriques. La visualisation d'un resultat de coclustering de variables prend la forme d'une grille (ou matrice) dont les dimensions sont partitionnees: les variables categorielles sont partitionnees en clusters et les variables numeriques en intervalles. L'outil permet plusieurs variantes de visualisations a differentes echelles de la grille au moyen de plusieurs criteres d'interet revelant diverses facettes des relations entre les variables.
Large‐brained mammals live longer

Many mammals have brains substantially larger than expected for their body size, but the reasons for this remain ambiguous. Enlarged brains are metabolically expensive and require elongated developmental periods, and so natural selection should have favoured their evolution only if they provide counterbalancing advantages. One possible advantage is facilitating the construction of behavioural responses to unusual, novel or complex socio‐ecological challenges. This buffer effect should increase survival rates and favour a longer reproductive life, thereby compensating for the costs of delayed reproduction. Here, using a global database of 493 species, we provide evidence showing that mammals with enlarged brains (relative to their body size) live longer and have a longer reproductive lifespan. Our analysis supports and extends previous findings, accounting for the possible confounding effects of other life history traits, ecological and dietary factors, and phylogenetic autocorrelation. Thus, these findings provide support for the hypothesis that mammals counterbalance the costs of affording large brains with a longer reproductive life.
Quality metrics for assessing security-critical computer programs

Existing secure software development principles tend to focus on coding vulnerabilities, such as buffer or integer overflows, that apply to individual program statements, or issues associated with the run-time environment, such as component isolation. Here we instead consider software security from the perspective of potential information flow through a program’s object-oriented module structure. In particular, we define a set of quantifiable "security metrics" which allow programmers to quickly and easily assess the overall security of a given source code program or object-oriented design. Although measuring quality attributes of object-oriented programs for properties such as maintainability and performance has been well-covered in the literature, metrics which measure the quality of information security have received little attention. Moreover, existing securityrelevant metrics assess a system either at a very high level, i.e., the whole system, or at a fine level of granularity, i.e., with respect to individual statements. These approaches make it hard and expensive to recognise a secure system from an early stage of development. Instead, our security metrics are based on well-established compositional properties of object-oriented programs (i.e., data encapsulation, cohesion, coupling, composition, extensibility, inheritance and design size), combined with data flow analysis principles that trace potential information flow between high- and low-security system variables. We first define a set of metrics to assess the security quality of a given object-oriented system based on its design artifacts, allowing defects to be detected at an early stage of development. We then extend these metrics to produce a second set applicable to object-oriented program source code. The resulting metrics make it easy to compare the relative security of functionallyequivalent system designs or source code programs so that, for instance, the security of two different revisions of the same system can be compared directly. This capability is further used to study the impact of specific refactoring rules on system security more generally, at both the design and code levels. By measuring the relative security of various programs refactored using different rules, we thus provide guidelines for the safe application of refactoring steps to security-critical programs. Finally, to make it easy and efficient to measure a system design or program’s security, we have also developed a stand-alone software tool which automatically analyses and measures the security of UML designs and Java program code. The tool’s capabilities are demonstrated by applying it to a number of security-critical system designs and Java programs. Notably, the validity of the metrics is demonstrated empirically through measurements that confirm our expectation that program security typically improves as bugs are fixed, but worsens as new functionality is added.
Torque Harmonic Minimization for Load Commutated Inverters in Pulse Mode

This paper considers the operation of a load commutated inverter (LCI) fed synchronous machine when the stator voltage is too low to ensure commutation of the machine side thyristors. Under such low-voltage conditions, the LCI is operated in a so-called pulse mode, accompanied by higher drive torque harmonics than during standard operation. Following a theoretical analysis, an alternative pulse mode is proposed, describing how to operate the LCI during pulse mode in order to keep the excitation of the natural frequencies of the drive shaft at a minimum.
Assessment of leech therapy for knee osteoarthritis: A randomized study

Background and purpose Symptomatic treatment of osteoarthritis of the knee with leeches is presently undergoing a renaissance. Previous studies have shown methodical weaknesses. In the present study patients were blinded regarding the treatment, and a control group was included to explore possible differences in various subjective clinical scores and intake of pain medication over time between leech therapy and placebo control. Patients and methods 113 patients with advanced osteoarthritis of the knee were included. The patients were randomized to a single treatment group, group I (single leech application, n = 38), a double treatment group, group II (double application, n = 35), and a control group (n = 40). The second treatment in group II took place after an interval of 4 weeks. The treatment in the control group was simulated with the help of an “artificial leech”. Results were documented with the KOOS and WOMAC scores and also a visual analog scale (VAS) for pain. Changes in the use of pain medication were monitored over 26 weeks. Results An improvement in KOOS and WOMAC scores, and also in VAS, was found in all 3 groups following treatment. These improvements were statistically significant for treatment groups I and II during the complete follow-up period. The reduction in individual requirements for pain medication was also statistically significant. The greatest improvement was seen in the group treated twice with the leeches, with a long-term reduction of joint stiffness and improved function in the activities of daily living. Interpretation Leech therapy can reduce symptoms caused by osteoarthritis. Repeated use of the leeches appears to improve the long-term results. We have not determined whether the positive outcome of the leech therapy is caused by active substances released during the leeching, the placebo effect, or the high expectations placed on this unusual treatment form.
Recent Developments on Mass Spectrometry for the Analysis of Pesticides in Wastewater

The utility of pesticides plays an important role in the production of agronomy and horticul‐ ture areas. In recent years, pesticides have been widely used in increasing amount in various fields including agriculture, floriculture and horticulture. Pesticides applications are multi‐ disciplinary involving in addition to man, behind agronomist, biologist, economist, chem‐ ists, engineers, medical practitioners and physicists. The ideal pesticide would be one which is effective against the target species and has little or no side effects on human beings, live‐ stock, crop plants and other non-target organisms. The uses of various pesticides are in‐ creasing rapidly year by year with the growing awareness among the farmers about the utility of pesticides in maximum their benefits. Pesticides are a group of chemicals intended for preventing/destroying any pest detrimental to man or his interest during production, processing, storage, transportation and distribution of food. These are toxic substances de‐ liberately added to environment. They are used because of toxic and biocidal to kill and harm living things. Pest control is an integral part of the development of every country be‐ cause the damage done by pests is considerably high. Pesticides are not only destroy crops but also transmit diseases. Hence, the use of pesticides became necessary both in agricultur‐ al and household sectors.
Temporal expression of rod and cone opsins in embryonic goldfish retina predicts the spatial organization of the cone mosaic.

PURPOSE Cone photoreceptors in teleost fish retina are organized into a precise, crystalline mosaic in which the four spectral subtypes have a consistent position relative to each other. The objective of the current study was to describe the spatial and temporal progression of photoreceptor differentiation in the embryonic goldfish retina to understand how the retinal cone mosaic might be produced. METHODS To identify developing photoreceptors when they first begin to express a specific opsin, the authors used in situ hybridization with cRNA probes generated from cDNA for rod opsin and red, green, blue, and ultraviolet cone opsins from goldfish (Carassius auratus). RESULTS In the retina, rod opsin was expressed first, and it was restricted to a small patch of regularly spaced, precocious rods located near the ventronasal edge of the retina, close to the choroid fissure. The patch enlarged by recruitment of additional rods in a circular path, moving from ventral to nasal to dorsal to temporal retina. Expression of cone opsins began approximately 10 hours after rod opsin was first expressed, and differentiation of cone photoreceptors followed the spatial pattern laid down by the early rods. The temporal order of onset of cone opsin expression was red, then green, then blue, then ultraviolet. When rod and red cone opsin probes were combined, the number of labeled cells was additive, suggesting that these two opsins are expressed in separate populations of photoreceptors. CONCLUSIONS The onset of opsin expression in goldfish retina follows a highly ordered spatio-temporal pattern. Early differentiation and regular spacing of the precocious rods was unexpected and suggested that they may play a role in cone mosaic patterning. The order of subsequent cone opsin expression was related to the relative positions of cone subtype in the mosaic, suggesting the possibility that inductive interactions among developing photoreceptors may be responsible for patterning the cone mosaic array.
A numerical model for the coupled long‐term evolution of salt marshes and tidal flats

[1] A one-dimensional numerical model for the coupled long-term evolution of salt marshes and tidal flats is presented. The model framework includes tidal currents, wind waves, sediment erosion, and deposition, as well as the effect of vegetation on sediment dynamics. The model is used to explore the evolution of the marsh boundary under different scenarios of sediment supply and sea level rise. Numerical results show that vegetation determines the rate of marsh progradation and regression and plays a critical role in the redistribution of sediments within the intertidal area. Simulations indicate that the scarp between salt marsh and tidal flat is a distinctive feature of marsh retreat. For a given sediment supply the marsh can prograde or erode as a function of sea level rise. A low rate of sea level rise reduces the depth of the tidal flat increasing wave dissipation. Sediment deposition is thus favored, and the marsh boundary progrades. A high rate of sea level rise leads to a deeper tidal flat and therefore higher waves that erode the marsh boundary, leading to erosion. When the rate of sea level rise is too high the entire marsh drowns and is transformed into a tidal flat.
EMC aspects of turbulence heating observer (THOR) spacecraft

Turbulence Heating ObserveR (THOR) is a spacecraft mission dedicated to the study of plasma turbulence in near-Earth space. The mission is currently under study for implementation as a part of ESA Cosmic Vision program. THOR will involve a single spinning spacecraft equipped with state of the art instruments capable of sensitive measurements of electromagnetic fields and plasma particles. The sensitive electric and magnetic field measurements require that the spacecraft-generated emissions are restricted and strictly controlled; therefore a comprehensive EMC program has been put in place already during the study phase. The THOR study team and a dedicated EMC working group are formulating the mission EMC requirements state of its EMC requirements.