Miracle-dz/UniFAR-FTUs huggingface dataset:
Formes monogéniques d'obésité : de la souris à l'homme

Le clonage de 5 genes dans les modeles monogeniques d'obesite animale a permis une avancee dans la comprehension de mecanismes de l'homeostasie energetique. De meme l'approche genetique dans des formes rares d'obesite humaine a conduit a l'identification des equivalents humains des modeles genetiques de rongeur ou a l'implication de genes situes dans les memes voies physiopathologiques. Trois rares cas d'obesite extreme a debut precoce associee a un hypogodanisme hypogonadotrophique sont dus a des mutations dans le gene de la leptine et du recepteur. Ces etudes ont montre le role crucial de la leptine dans la regulation du poids chez l'homme et dans le controle de plusieurs voies endocrines dont l'axe gonadotrope. D'autres formes d'obesite humaine sont liees a des mutations dans des cibles de la leptine dans l'hypothalamus, particulierement des produits de la voie des melanocortines. Des mutations du gene de la POMC entrainent une obesite severe associee a une insuffisance corticotrope par deficit en ACTH et a des modifications de la pigmentation par absence en aMSH. Une autre cause d'obesite est due a une mutation de la proconvertase1 responsable du clivage de POMC en ACTH et en aMSH et de la proinsuline en insuline. La jeune femme porteuse de cette mutation associe en dehors d'une obesite, un deficit corticotrope partiel, une elevation de POMC et des hypoglycemies tardives dues a l'accumulation de pro-insuline. Contrastant avec ces situations d'obesite syndromique, des mutations situees dans le gene du recepteur aux melanocortines de type 4 sont responsables de formes isolees d'obesite de gravite variable sans autre anomalie endocrine associee. Ces mutations de MC4R pourraient representer une cause frequente d'obesite chez l'homme mais il reste a evaluer precisement leur penetrance et leurs aspects fonctionnels. Les travaux dans les formes monogeniques d'obesite ont ouvert la connaissance vers certaines des voies physiologiques controlant la regulation du poids.
A molecular approach to the calcium signal in brain: relationship to synaptic modulation and seizure discharge.

: The synapse is a major regulatory site that has been implicated in modulating neuronal excitability and seizure discharge. Voltage-dependent calcium (Ca2+) entry at the synapse plays a major role in initiating neurotransmitter release and in regulating synaptic function. Thus, obtaining a molecular understanding of the effects of Ca2+ on synaptic modulation would provide important insights into the regulation of synaptic activity and, possibly, the biochemical basis for some forms of epilepsy. Calmodulin is a major Ca2+-binding protein in brain that has been implicated in mediating many of the second messenger effects of Ca2+ on neuronal function. The evidence implicating calmodulin in modulating synaptic excitability will be presented. Calmodulin was shown to be present at the synapse in association with synaptic vesicles and in the postsynaptic density. In addition, several calmodulin-regulated synaptic biochemical processes have been identified, including Ca2+- and calmodulin-regulated protein phosphorylation, vesicular neurotransmitter release, vesicle-membrane interactions, and neurotransmitter turnover. These results indicate that calmodulin may play an important role in synaptic modulation and provide a molecular approach to investigating the Ca2+ signal in brain. Several anticonvulsants have been shown to regulate some of calcium's effects on neuronal function. These anticonvulsants include phenytoin, carbamazepine, and the benzodiazepines. All of these compounds are effective against maximal electric shock (MES) seizure models in animals. Anticonvulsants were tested on several of the Ca2+-calmodulin-regulated synaptic biochemical systems. The results demonstrate that phenytoin, carbamazepine, and the benzodiazepines were effective in inhibiting calcium calmodulin protein kinase activity in membrane and purified kinase preparations, vesicle neurotransmitter release, vesicle-membrane interactions, and voltage-sensitive calcium uptake in intact synaptosomes. Phenobarbital, ethosuximide, trimethadione, valproic acid, and vinyl gamma-aminobutyric acid (GABA) were not effective in inhibiting these calcium-regulated processes. Thus, the effects of anticonvulsants on calcium-regulated processes were selective to a group of anticonvulsants that had been shown in several electrophysiological systems to antagonize some of the actions of calcium on neuronal excitability. These observations suggested the existence of specific membrane receptors that might mediate the effects of these anticonvulsants on neuronal function through the regulation of calcium-calmodulin-regulated processes. (ABSTRACT TRUNCATED AT 400 WORDS)
The Consequences of Discount Rate Selection for Defined Benefit Liabilities

Abstract This paper provides evidence on the use of discount rates for calculating defined benefit liabilities (DBL), and their impact on value relevance and audit fees for Australian listed companies between 2011 and 2016. We document that the average discount rate is 3.96% but the yearly range across companies is 4.03% (2.76% excluding multinationals with multiple plans), despite the fact that AASB 119 provides guidance to use the yield of high quality corporate bonds or, if there is not a deep market, government bonds. We then find that the DBL or unfunded component (DBL less the fair value of the plan’s assets) is value relevant, but is less so when a higher discount rate is used. Furthermore, we document that audit fees are higher when the DBL is larger, or the discount rate is higher, consistent with greater audit effort and risk. Overall, this paper contributes to the accounting literature by documenting both the discretion available in discount rate selection and its consequences.
SVILUPPO DELL’AGRICOLTURA SOSTENIBILE: CARENZE LEGISLATIVE E PROSPETTIVE URBANE

Agriculture plays an important role for sustainable development, promoting better social integration through job creation, contributing to healthier food and food security and above all raising awareness of land use processes and contributing to environmentally friendly farming practices. This article aims to contribute to a multidisciplinary perspective on sustainable development and to demonstrate how urban plots can contribute to sustainable development in cities. This study makes a theoretical contribution incorporating a specific Portuguese case. From a practical perspective, the paper discusses how by fostering policy formulation in local and national government levels help to promote and regulate the use of urban plots.
An Approach to Modeling on Financial Time Series Data with Regime Shifts

This paper proposes a new method to analyze time series data with regime shifts and makes the following three contributions: (1) it suggests an exponential weighted estimation algorithm for autoregressive model with time varying coefficients, (2) it gives a visualization technique of structural change points and an outlier measure based on the Mahalanobis distance and (3) it illustrates that our method works for hedge fund return data and high frequency FX data.
Influence of quenched disorder on discontinuous absorbing phase transition

Influence of quenched disorder on critical behavior of the deterministic conserved threshold transfer process (DCTTP) was investigated. DCTTP is a variant of the conserved threshold transfer process modified such that active-particle hopping is deterministic and has been reported to exhibit discontinuous phase transition (Lee and Lee 2009 Phys. Rev. E 80 011106) in all considered dimensions, i.e. one, two, and four dimensions. Two disorder types were considered. First, while particle hopping on ordered sites is deterministic, hopping on disordered sites is subject to be stochastic, i.e. active particles on disordered sites hop to randomly selected neighboring sites. Second, disorder is assumed to be random dilution of lattice sites, i.e. particles cannot occupy disordered sites. The order parameter was found to be continuous for disorder of stochastic hopping, i.e. the first-order transition was rounded to the second-order transition for any small amount of disorder, whereas the transition remained first order but the critical exponent associated with the power law decrease of active-site densities varied for considerable amount of lattice site dilution. These results are consistent with predictions established for equilibrium n-vector spin systems.
Context-Aware Human Activity Recognition (CAHAR) in-the-Wild Using Smartphone Accelerometer

Smartphones are a promising platform for continuous monitoring of human behavior. However, the ability to capture people’s behavioral patterns in-the-wild is a challenge, as the user’s behavior and physical activities can vary, given the variability of settings and environments. Modeling and understanding of human activity in-the-wild must not overlook a user’s behavioral context, which is just as crucial as recognizing the range of physical activities. The work in this paper presents a novel framework for context-aware human activity recognition by incorporating human behavioral contexts with physical activities. The proposed framework utilizes a series of machine learning classifiers to validate the efficiency of the proposed method.
An Optimized Faster R-CNN Method Based on DRNet and RoI Align for Building Detection in Remote Sensing Images

In recent years, the increase of satellites and UAV (unmanned aerial vehicles) has multiplied the amount of remote sensing data available to people, but only a small part of the remote sensing data has been properly used; problems such as land planning, disaster management and resource monitoring still need to be solved. Buildings in remote sensing images have obvious positioning characteristics; thus, the detection of buildings can not only help the mapping and automatic updating of geographic information systems but also have guiding significance for the detection of other types of ground objects in remote sensing images. Aiming at the deficiency of traditional building remote sensing detection, an improved Faster R-CNN (region-based Convolutional Neural Network) algorithm was proposed in this paper, which adopts DRNet (Dense Residual Network) and RoI (Region of Interest) Align to utilize texture information and to solve the region mismatch problems. The experimental results showed that this method could reach 82.1% mAP (mean average precision) for the detection of landmark buildings, and the prediction box of building coordinates was relatively accurate, which improves the building detection results. Moreover, the recognition of buildings in a complex environment was also excellent.
Flow cytometry as an important tool in the diagnosis of immunodeficiencies demonstrated in a patient with ataxia-telangiectasia

Abstract Background: Ataxia-telangiectasia (AT) is a rare hereditary genetic disease caused by one of more than 500 mutations in the ataxia-telangiectasia mutated gene (ATM). AT is characterized by cerebellar ataxia, telangiectasia of blood vessels, immunodeficiency with frequent lung infections, susceptibility to cancer, and sensitivity to ionizing radiation. A correct immunophenotyping of lymphocytes is necessary to identify the cause of the immunodeficiency. Methods: We evaluated a patient (female, 15 years) with AT by estimation of antibody titers, characterization of peripheral B- and T-cell subsets and investigation of proliferation response of B- and T-cells undergoing specific stimulation with PHA, CD3/CD28, and R848/CD40L. A healthy volunteer was used as a control. Results: The patient showed a heterozygous mutation in the ATM gene (c.5932G>T[p.E1978X]/c.7788+3A>G). Interestingly, despite a very low level of class-switched memory B-cells normal levels of serum immunoglobulins and antibody titers to viral and bacterial antigens could be observed. Furthermore, the analysis revealed an increase in total numbers of T-cells, caused by an extraordinarily high amount of γ/δ T-cells (CD3+CD4–CD8) (>75% of T-cells). Remaining CD4+/CD8+T-cells were decreased, naïve cells and recent thymic emigrants (RTEs) were strongly deficient. Subsequently, the proliferation activity of T-cells was strongly impaired, in contrast to normal B-cell proliferation both compared to the healthy control. Conclusions: Initial lymphocyte immunophenotyping suggested a defect in T- and B-cell differentiation, but normal humoral antibody titers and B-cell proliferation were inconsistent with this suspicion. Therefore, the results revealed an underlying T-cell defect and low levels of class-switched B-cells results from the lacking assistance from T-cells.
Integrated Timetable Optimization for Minimum Total Energy Consumption of an AC Railway System

The optimization of train trajectory and timetable offers two effective methods of energy-efficient operations. Most traditional research optimizes them separately and thus the global optimality cannot be achieved. Previous work has mainly concentrated on minimizing the mechanical energy consumption of trains, not the electrical energy. This paper aims to develop an integrated model to optimize the integrated timetable, which includes both the timetable and the train trajectory achieve the minimum electrical energy consumption. The AC power supply system model is first proposed to calculate the parameters of the AC power supply network. Then, a model is developed to calculate various energy consumptions using power flow calculation. Furthermore, an integrated timetable optimization model for minimum total energy consumption of AC railway system is proposed and the optimal integrated timetable is obtained by the proposed hybrid GA-PSO algorithm. Finally, 5 real-world case studies based on the Lanzhou–Xinjiang high-speed railway are presented. The results show that the proposed integrated model can achieve a reduction in total energy consumption for the entire line up to 14.3% compared with the previous optimization model. The hybrid GA-PSO algorithm achieves the best results compared with the results achieved by the GA and PSO algorithms applied along.
Incentive-Aware Micro Computing Cluster Formation for Cooperative Fog Computing

Fog computing is envisioned as a promising approach for supporting emerging computation-intensive applications on capacity and battery constrained mobile Internet of Things (IoT) devices. Technically speaking, a massive crowd of devices in close proximity can be harvested and collaborate for computation and communication resource sharing. Hence fog computing enables significant potentials in low-latency and energy-efficient mobile task execution. However, without an efficient incentive mechanism to stimulate resource sharing among devices, the benefits of fog computing cannot be fully realized. Leveraging coalitional game theory, this work presents an efficient incentive mechanism to incentivize mutually-beneficial resource cooperation among the devices for collaborative task execution. In particular, to efficiently achieve mutually beneficial task execution, the proposed mechanism groups the devices into multiple micro computing clusters (MCCs). Within each MCC, devices can exchange mutually beneficial actions by helping to compute or transmit tasks, making all of their performances no worse than local execution or execution in the fog server. The solution to the MCC formation is devised by both centralized and decentralized schemes and further proven to admit nice properties such as top coalition, core solution, individual rationality and computational efficiency. Extensive numerical studies demonstrate the superior performance of our MCC formation mechanisms.
Awareness, Knowledge and Perception of Safe Surgery Checklist and its Implementation in Jos University Teaching Hospital, Plateau State, Nigeria

Surgery-related complications and mortality have remained unbearably high, particularly in developing countries. Consequently the WHO, developed a Safe Surgery checklist (SSC) to improve the safety of surgeries and reduce mismanagement in surgery. This study was designed to assess the knowledge, attitude and perception of theatre staff about the SSC. A cross sectional study involving theatre staff of Jos University Teaching Hospital, Nigeria was employed. Information on socio-demographic characteristics, Knowledge and awareness of the SSC, Perception towards safety culture and team work, Willingness and attitude of participants to use the SSC and Challenges affecting the implementation of the SSC in JUTH operating theatres were collected, using a semi-structured questionnaire. A total of 68 theatre staff participated in the study. Majority 63 (92.5%) had heard about the safe surgery checklist. About 47.0% mentioned they did not usually have enough time for safety preparation, (72.1%) noted that there was not enough resources put in place to ensure safety. Majority (92.7%), indicated that they wanted the checklist to be used for all surgical procedures. and also improve communication and collaboration between operating room staff. Only 13.3% agreed that the checklist is easy to use. More than half (54.4%) felt that the checklist may not bring any extra value to existing safety procedures already in place. Lack of commitment from the Management (16.2%), Lack of interest of health worker (14.7%), Shortage/lack of manpower (20.6%), Lack of team spirit (23.5%) and Inadequate supply of consumable instruments and other equipment/facilities (22.0) were pointed out by the participants as challenges that can affect the implementation of the safe surgery checklist.
Extended criteria donor: how far?

Extended-criteria donors are increasing due to aging of the donor population, changes in causes of death, and medical progresses in the field of transplantation, allo- wing to transplant grafts from older and/or with vascular co-morbidities donors. The use of grafts from such donors is evidence-based and beneficial for recipients with respect of certain conditions including maintenance of donors as well as evaluation of viability, conservation, and allocation of the organs. Scoring systems allow the detection of grafts at significant risk of failure, for which diagnostic tools will be developed in order to better assess their quality and function. This policy should lead to the implementation of all strate- gies to optimize graft function but also allow, when appro- priate, the recognition of grafts that present the risk of poor or no functional status, to be discarded from transplantation.
Premi Penjaminan Simpanan Berbasis Risiko: Studi Kasus LPS Indonesia [Risk-Based Deposit Insurance Premium: A Case Study of Indonesia Deposit Insurance Corporation (IDIC)]

This research aims to: (i) identify banking performance indicators that can potentially become the basis for risk-based deposit insurance premium in Indonesia, (ii) estimate risk-based deposit insurance rates for individual banks; and (iii) approximate the incurred costs of premium for individual banks. The results show that a number of banking performance indicators that can be used as the basis for risk-based deposit insurance premium encompass such as capital adequacy ratio (CAR), loan to deposit ratio (LDR), non-performing loans, (NPL), and cost to income ratio (CIR). CAR poses the largest weight of 48.48 per cent. Another result estimates the risk-based deposit insurance rates for individual banks ranging from 0.200 to 0.352 per cent per annum. The other result reveals that big banks do not always have a better risk management compared to small banks. Also, banks with a good risk management, indicated by low scores in this research, will burden the same premium costs either based on risk-based scheme or the current flat rate scheme.
Where Is the Bottom of a Watershed?

Watersheds have served as one of our most basic units of organization in hydrology for over 300 years (Dooge, 1988, https://doi.org/10.1080/02626668809491223; McDonnell, 2017, https://doi.org/10.1038/ngeo2964; Perrault, 1674, https://www.abebooks.com/first‐edition/lorigine‐fontaines‐Perrault‐Pierre‐Petit‐Imprimeur/21599664536/bd). With growing interest in groundwater‐surface water interactions and subsurface flow paths, hydrologists are increasingly looking deeper. But the dialog between surface water hydrologists and groundwater hydrologists is still embryonic, and many basic questions are yet to be posed, let alone answered. One key question is: where is the bottom of a watershed? Knowing where to draw the bottom boundary has not yet been fully addressed in the literature, and how to define the watershed “bottom” is a fraught question. There is large variability across physical and conceptual models regarding how to implement a watershed bottom, and what counts as “deep” varies markedly in different communities. In this commentary, we seek to initiate a dialog on existing approaches to defining the bottom of the watershed. We briefly review the current literature describing how different communities typically frame the answer of just how deep we should look and identify situations where deep flow paths are key to developing realistic conceptual models of watershed systems. We then review the common conceptual approaches used to delineate the watershed lower boundary. Finally, we highlight opportunities to trigger this potential research area at the interface of catchment hydrology and hydrogeology.
Visuo-perceptual correlates of autistic trait expression in children with Fragile X syndrome and Down Syndrome

Autism Spectrum Disorder (ASD) is a clinical umbrella term used to reference a neurodevelopmental profile of socio-communicative impairment and restricted, repetitive patterns of behaviour (RRB). In most cases, ASD is ‘idiopathic’ meaning that genetic aetiology is poorly defined. In other cases, ASD may present in genetic syndrome groups of known aetiology, like Fragile X syndrome (FXS) and Down syndrome (DS). There is research to suggest that these ‘syndromic’ forms of ASD manifest distinctly in terms of behavioural symptomatology; however, beyond this level of description, we know little of the nature of these comorbidities. Visuo-perceptual irregularities are well documented in idiopathic ASD populations; in particular, spatial orienting and visual search abilities are known to be affected. Prior to this doctorate research, it remained to be seen whether behavioural manifestations of autistic-like impairment in FXS and DS were characterised by similar visuo-perceptual abnormalities. This thesis presents a series of eye-tracking studies designed to characterise syndromic forms of ASD according to associated visuo-perceptual mechanism. The work that is presented here examines the visuo-perceptual correlates of autistic trait expression in neuro-typical (NT) children (n=56) and in three clinical paediatric cohorts: idiopathic ASD (n=16), FXS (n=7) and DS (n=15), focusing specifically on attentional disengagement and visual search performance. The results are consistent with the notion of syndrome-specific profiles of autistic-like impairment, extending the literature and elucidating the complex heterogeneity that is associated with ASD. Moreover, they illustrate the value of progressing beyond superficial behavioural indices of autistic-like impairment to examine, in a more fine-grained way, the neurocognitive features underpinning comorbid expressions of autistic-like deficit.