143 research outputs found
Navigating through the COVID-19 pandemic. Unfinished learning in primary and secondary education in Tunisia
During the outbreak of the global SARS-CoV-2 (COVID-19) pandemic, Tunisia, like many countries, prepared an emergency plan to shift to distance learning to salvage the academic year and ensure continuous learning. However, a shortage of digital materials coupled with the fact that many households did not have adequate Internet bandwidth made it virtually impossible to secure adequate digital learning. When in-person schooling was restarted in 2020/21, primary, pre-secondary, and secondary school pupils attended school on alternate days to avoid overcrowding. As a result of the pandemic, the curriculum has been lightened, and the fundamentals have been prioritized. Based on a content analysis of the Ministry of Education documents and a survey conducted by the Ministry on remote learning, we shed light on the different measures taken to curb learning loss during the spread of the pandemic as well as the challenges facing Tunisian students and the government. The consequences of these measures are discussed along with future recommendations. (DIPF/Orig.
L’endocardite à Bartonella en Tunisie: Particularités lésionnelles et évolutives
L'endocardite à Bartonalla est une infection ubiquitaire, son diagnostic est difficile vu qu'il s'agit souvent d'endocardite à hémoculture négative. Lebut de cette étude est d'analyser les particularités lésionnelles et évolutives de cette entité dans un pays du nord d'Afrique, la Tunisie et dedémontrer la gravité de cette infection. Nous avons étudié rétrospectivement les dossiers médicaux de 20 patients atteints d'endocardite à Bartonella, confirmée selon les critères de Dukes modifiés. L'âge moyen de nos patients était 37 ans avec une prédominance masculine (SR=3). Tous nos malades avaient un niveau socio-économique bas. Le motif essentiel de consultation était la dyspnée, 6 patients étaient admis dans un tableau d'insuffisance cardiaque congestive. Une prédilection des lésions au niveau de la valve aortique a été notée (14 cas). Quatorze patients avaient des végétations endocarditiques avec une taille qui dépasse 10 mm chez 8 malades. La majorité des patients (18 patients) présentaient une régurgitation valvulaire massive en rapport principalement avec des mutilations importantes (6 cas de ruptures de cordages mitraux, 2 cas de déchirures des sigmoïdes aortiques, un cas de perforation valvulaire aortique, un cas de désinsertion de prothèse mitrale). Quinze malades (3/4) avaient nécessité une chirurgie à la phase active de la maladie, l'indication majeure était l'insuffisance cardiaque. Une complication neurologique était notée chez 2 malades et une complication rénale chez 3 malades. Treize patients étaient guéris, 5 malades étaient décédés et 2 malades opérés ont présenté une réinfection à staphylococcus aureus et à candida albicans en postopératoire. L'endocardite à Bartonella est une infection grave. Cette Bactérie possède un potentiel destructif important. Le recours à la chirurgie est quasi constant. La morbi-mortalité est élevée. La recherche de cette bactérie devrait être alors systématique chez nos malades suspects d'endocardite d'autant plus que la bartonellose est endémique sur nos terres
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans
A CAPN1 missense mutation in Parson Russell Terrier dogs is associated with spinocerebellar ataxia. We now report that homozygous or heterozygous CAPN1-null mutations in humans result in cerebellar ataxia and limb spasticity in four independent pedigrees. Calpain-1 knockout (KO) mice also exhibit a mild form of ataxia due to abnormal cerebellar development, including enhanced neuronal apoptosis, decreased number of cerebellar granule cells, and altered synaptic transmission. Enhanced apoptosis is due to absence of calpain-1-mediated cleavage of PH domain and leucine-rich repeat protein phosphatase 1 (PHLPP1), which results in inhibition of the Akt pro-survival pathway in developing granule cells. Injection of neonatal mice with the indirect Akt activator, bisperoxovanadium, or crossing calpain-1 KO mice with PHLPP1 KO mice prevented increased postnatal cerebellar granule cell apoptosis and restored granule cell density and motor coordination in adult mice. Thus, mutations in CAPN1 are an additional cause of ataxia in mammals, including humans
A multi-biometric iris recognition system based on a deep learning approach
YesMultimodal biometric systems have been widely
applied in many real-world applications due to its ability to
deal with a number of significant limitations of unimodal
biometric systems, including sensitivity to noise, population
coverage, intra-class variability, non-universality, and
vulnerability to spoofing. In this paper, an efficient and
real-time multimodal biometric system is proposed based
on building deep learning representations for images of
both the right and left irises of a person, and fusing the
results obtained using a ranking-level fusion method. The
trained deep learning system proposed is called IrisConvNet
whose architecture is based on a combination of Convolutional
Neural Network (CNN) and Softmax classifier to
extract discriminative features from the input image without
any domain knowledge where the input image represents
the localized iris region and then classify it into one of N
classes. In this work, a discriminative CNN training scheme
based on a combination of back-propagation algorithm and
mini-batch AdaGrad optimization method is proposed for
weights updating and learning rate adaptation, respectively.
In addition, other training strategies (e.g., dropout method,
data augmentation) are also proposed in order to evaluate
different CNN architectures. The performance of the proposed
system is tested on three public datasets collected
under different conditions: SDUMLA-HMT, CASIA-Iris-
V3 Interval and IITD iris databases. The results obtained
from the proposed system outperform other state-of-the-art
of approaches (e.g., Wavelet transform, Scattering transform,
Local Binary Pattern and PCA) by achieving a Rank-1 identification rate of 100% on all the employed databases
and a recognition time less than one second per person
Stability of domain structures in multi-domain proteins
Multi-domain proteins have many advantages with respect to stability and folding inside cells. Here we attempt to understand the intricate relationship between the domain-domain interactions and the stability of domains in isolation. We provide quantitative treatment and proof for prevailing intuitive ideas on the strategies employed by nature to stabilize otherwise unstable domains. We find that domains incapable of independent stability are stabilized by favourable interactions with tethered domains in the multi-domain context. Stability of such folds to exist independently is optimized by evolution. Specific residue mutations in the sites equivalent to inter-domain interface enhance the overall solvation, thereby stabilizing these domain folds independently. A few naturally occurring variants at these sites alter communication between domains and affect stability leading to disease manifestation. Our analysis provides safe guidelines for mutagenesis which have attractive applications in obtaining stable fragments and domain constructs essential for structural studies by crystallography and NMR
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
Effects of poling and crystallinity on the dielectric properties of Pb(In1/2Nb1/2)O3-Pb(Mg1/3Nb2/3)O3-PbTiO3 at cryogenic temperatures
The mechanisms underlying the anomalously large, room temperature piezoelectric activity of relaxor-PbTiO3 type single crystals have previously been linked to low temperature relaxations in the piezoelectric and dielectric properties. We investigate the properties of Pb(In1/2Nb1/2)O3-Pb(Mg1/3Nb2/3)O3-PbTiO3 between 10 and 300 K using dielectric permittivity measurements. We compare results on single crystal plates measured in the [001] and [111] directions with a polycrystalline ceramic of the same composition. Poled crystals have very different behaviour to unpoled crystals, whereas the dielectric spectrum of the polycrystalline ceramic changes very little on poling. A large, frequency dependent dielectric relaxation is seen in the poled [001] crystal around 100 K. The relaxation is much less prominent in the [111] cut crystal, and is not present in the polycrystalline ceramic. The unique presence of the large relaxation in poled, [001] oriented crystals indicates that the phenomenon is not due their relaxor nature alone. We propose that heterophase dynamics such as the motion of phase domain boundaries are responsible for both the anomalous electromechanical and dielectric behaviour
Using global team science to identify genetic parkinson's disease worldwide.
No abstract available
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort
© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited.
Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD.
Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed.
Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published.
Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.Michael J. Fox Foundation for Parkinson's Research. Grant Number: ID 15015.02. NIHR Cambridge Biomedical Research Centre. Grant Number: BRC-1215-20014info:eu-repo/semantics/publishedVersio
Electrochemical and spectral studies of auto-assembled arrays of calix[4]arenequinhydrone charge-transfer complex on indium–tin oxide (ITO) glass
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