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Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome

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World Journal of Clinical Cases 2024年第3期12卷 503-516页

作者： Wiem Manoubi Marwa Mahdouani Dorra Hmida Ameni Kdissa Aida Rouissi Ilhem Turki Neji Gueddiche Najla Soyah Ali Saad Christian Bouwkamp Ype Elgersma Soumaya Mougou-Zerelli moez Gribaa Laboratory of Human Cytogenetics Molecular Genetics and Reproductive BiologyFarhat Hached University HospitalSousse 4000Tunisia Higher Institute of Biotechnology of Monastir University of MonastirMonastir 3000Tunisia Department of Neuropediatry La Rabta HospitalTunis 2000Tunisia Department of Pediatric Farhat Hached University HospitalSousse 4000Tunisia Department of Neuroscience Erasmus MCthe NetherlandsRotterdam 3112 tdNetherlands

BACKGROUND Angelman syndrome(AS)is caused by maternal chromosomal deletions,imprinting defects,paternal uniparental disomy involving chromosome 15 and the ubiquitin-protein ligase UBE3A gene mutations.However the genetic basis remains unclear for several patients.AIM To investigate the involvement of UBE3A gene in AS and identifying new potential genes using exome sequencing.METHODS We established a cohort study in 50 patients referred to Farhat Hached University Hospital between 2006 and 2021,with a strong suspicion of AS and absence of chromosomal aberrations.The UBE3A gene was screened for mutation detection.Two unrelated patients issued from consanguineous families were subjected to exome analysis.RESULTS We describe seven UBE3A variants among them 3 none previously described including intronic variants c.2220+14T>C(intron14),c.2507+43T>A(Exon15)and insertion in Exon7:c.30-47_30-46.The exome sequencing revealed 22 potential genes that could be involved in AS-like syndromes that should be investigated further.CONCLUSION Screening for UBE3A mutations in AS patients has been proven to be useful to confirm the diagnosis.Our exome findings could rise to new potential alternative target genes for genetic counseling.

关键词： Angelman syndrome Ubiquitin-protein ligase E3A Exome Consanguinity Polymorphism

Predictors of perioperative respiratory adverse events among children with upper respiratory tract infection undergoing pediatric ambulatory ilioinguinal surgery:a prospective observational research

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World Journal of Pediatric Surgery 2023年第2期6卷 97-102页

作者： Anouar Jarraya Manel Kammoun Saloua Ammar Wiem feki Kamel Kolsi The anesthesiology Department Hedi Chaker University HospitalUniversity of SfaxSfaxTunisia Faculty of Medicine of Sfax University of SfaxSfaxTunisiaFaculty of Medicine of SfaxUniversity of SfaxSfaxTunisia Department of Pediatric Surgery Hedi Chaker HospitalSfaxTunisiaFaculty of Medicine of SfaxUniversity of SfaxSfaxTunisia

Objectives Anesthesia for children with an upper respiratory tract infection(URI)has an increased risk of perioperative respiratory adverse events(PRAEs)that may be predicted according to the COLDS score.The aims of this study were to evaluate the validity of the COLDS score in children undergoing ilioinguinal ambulatory surgery with mild to moderate URI and to investigate new predictors of PRAEs.Methods This was a prospective observational study including children aged 1-5 years with mild to moderate symptoms of URI who were proposed for ambulatory ilioinguinal surgery.The anesthesia protocol was standardized.Patients were divided into two groups according to the incidence of PRAEs.Multivariate logistic regression was performed to assess predictors for PRAEs.Results In this observational study,216 children were included.The incidence of PRAEs was 21%.Predictors of PRAEs were respiratory comorbidities(adjusted OR(aOR)=6.3,95%CI 1.19 to 33.2;p=0.003),patients postponed before 15 days(aOR=4.3,95%CI 0.83 to 22.4;p=0.029),passive smoking(aOR=5.31,95%CI 2.07 to 13.6;p=0.001),and COLDS score of>10(aOR=3.7,95%CI 0.2 to 53.4;p=0.036).Conclusions Even in ambulatory surgery,the COLDS score was effective in predicting the risks of PRAEs.Passive smoking and previous comorbidities were the main predictors of PRAEs in our population.It seems that children with severe URI should be postponed to receive surgery for more than 15 days.

关键词： surgery ambulatory respiratory

Synthesis and study the influence of yttrium doping on band structure,optical,non-linear optical and dielectric results for Ca_(12)Al_(14)O_(33) (C12A7) single crystals grown using traveling-solvent floating zone (TSFZ) method

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Chinese Physics B 2022年第1期31卷 626-630页

作者： A.Abdel moez Ahmed I.Ali A.Tayel Solid State Physics Department Physical Research DivisionNational Research Centre(NRC)33 El Bohouth StreetDokkiGiza 12622Egypt Basic Science Department Faculty of Faculty of Technology and EducationHelwan UniversityKobry El-QopaCairo 11281Egypt

Ca_(12)Al_(14)O_(33)(C12A7)and Y_(0.02)Ca_(11.98)Al_(14)O_(33)(Y-C12A7)single crystals were grown by using the traveling-solvent floating zone(TSFZ)method.The temperature was increased to avoid the bubbles and cracks which may be formed during the preparation of the ingot material.We have started with the flux higher than the normal to avoid the bubbles and make good treatment for the solid-liquid interface.The structures of both Ca_(12)Al_(14)O_(33)(C12A7)and Y_(0.02)Ca_(11.98)Al_(14)O_(33)(Y-C12A7)were studied by using x-ray diffraction(XRD).Optical properties for C12A7 and Y-C12A7 single crystals have been studied in order to determine the optical parameters such as optical energy gap(Eg),refractive index n,oscillating energy(Eo),dispersion energy(Ed),volume energy loss function(VELF),and surface energy loss function(SELF).Finally,a new result for these samples is that the third-order nonlinear optical susceptibility(χ(3))was determined.The results have been discussed with effect of Y-doping on the C12A7 single crystals for optical and industrial applications.

关键词： syntheses Ca_(12)Al_(14)O_(33)(C12A7)single crystals Y-doping optical parameters dielectric results nonlinear optical susceptibility

An Accurate Dynamic Forecast of Photovoltaic Energy Generation

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Fluid Dynamics & Materials Processing 2022年第6期18卷 1683-1698页

作者： Anoir Souissi Imen Guidara Maher Chaabene Giuseppe Marco Tina moez Bouchouicha Signal Image et Maîtrise de l’Energie(SIME Laboratory)Tunis1008Tunisia Dipartimento di Ingegneria Elettrica Elettronica e InformaticaCatania95125Italy Laboratoire LIS-Equipe SIIM Département GMP IUT Toulon83041France

The accurate forecast of the photovoltaic generation(PVG)process is essential to develop optimum installation sizing and pragmatic energy planning and management.This paper proposes a PVG forecast model for a PVG/Battery installation.The forecasting strategy is built on a Medium-Term Energy Forecasting(MTEF)approach refined dynamically every hour(Dynamic Medium-Term Energy Forecasting(DMTEF))and adjusted by means of a Short-Term Energy Forecasting(STEF)strategy.The MTEF predicts the generated energy for a day ahead based on the PVG of the last 15 days.As for STEF,it is a combination between PVG Short-Term(ST)forecasting and DMTEF methods obtained by selecting the least inaccurate PVG estimation every 15 minutes.The algorithm results are validated by measures taken on a 3 KWp standalone PVG/Battery installation.The proposed approaches have been integrated into a management algorithm in order to make a pragmatic decision to ensure load supply considering relevant constraints and priorities and guarantee the battery safety.Simulation results show that STEF provides accurate results compared to measures in stable and perturbed days.The NMBE(Normalized Mean Bias Error)is equal to-0.58%in stable days and 26.10%in perturbed days.

关键词： Energy Forecasting MTEF DMTEF STEF ARIMA model photovoltaic energy

Estimation and inter-comparison of infiltration models in the agricultural area of the Mitidja Plain, Algeria

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Journal of Arid Land 2023年第12期15卷 1474-1489页

作者： Amina MAZIGHI Hind MEDDI Mohamed MEDDI Ishak ABDI Giovanni RAVAZZANI Mouna feki Higher National School of Hydraulics of Blida Blida 09000Algeria Department of Civil Engineering and Hydraulics University of JijelJijel 18000Algeria Department of Civil and Environmental Engineering Polytechnic University of MilanMilan 20133Italy

Infiltration is an important part of the hydrological cycle, and it is one of the main abstractions accounted for in the rainfall-runoff modeling. The main purpose of this study is to compare the infiltration models that were used to assess the infiltration rate of the Mitidja Plain in Algeria. Field infiltration tests were conducted at 40 different sites using a double ring infiltrometer. Five statistical comparison criteria including root mean squared error(RMSE), normalized root mean squared error(NRMSE), coefficient of correlation(CC), Nash-Sutcliffe efficiency(NSE), and Kling-Gupta efficiency(KGE) were used to determine the best performing infiltration model and to confirm anomalies between predicted and observed values. Then we evaluated performance of five models(i.e., the Philip model, Kostiakov model, Modified Kostiakov model, Novel model, and Horton model) in simulating the infiltration process based on the adjusted performance parameters cited above. Results indicated that the Novel model had the best simulated water infiltration process in the Mitidja Plain in Algeria. However, the Philip model was the weakest to simulate the infiltration process. The conclusion of this study can be useful for estimating infiltration rate at various sites using a Novel model when measured infiltration data are not available and are useful for planning and managing water resources in the study area.

关键词： infiltration rate infiltration model double ring infiltrometer Mitidja Plain Novel model

Multi-Criteria Fuzzy-Based Decision Making Algorithm to Optimize the VHO Performance in Hetnets

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Computers, Materials & Continua 2022年第1期70卷 323-341页

作者： A.Prithiviraj A.Maheswari D.Balamurugan Vinayakumar Ravi moez Krichen Roobaea Alroobaea Saeed Rubaiee Sankar Sennan Department of CSE Sona College of TechnologySalem636005India Department of CSE Dr.M.G.R.Educational and Research InstituteChennai600095India Center for Artificial Intelligence PrinceMohammad Bin Fahd UniversityKhobarSaudi Arabia Faculty of CSIT Al-Baha UniversitySaudi Arabia ReDCAD laboratory University of SfaxTunisia Department of Computer Science College of Computers and Information TechnologyTaif UniversityTaif21944Saudi Arabia Department of Industrial and Systems Engineering College of EngineeringUniversity of JeddahJaddahSaudi Arabia

Despite the seemingly exponential growth of mobile and wireless communication,this same technology aims to offer uninterrupted access to different wireless systems like Radio Communication,Bluetooth,and Wi-Fi to achieve better network connection which in turn gives the best quality of service(QoS).Many analysts have established many handover decision systems(HDS)to enable assured continuous mobility between various radio access technologies.Unbrokenmobility is one of themost significant problems considered in wireless communication networks.Each application needs a distinct QoS,so the network choice may shift appropriately.To achieve this objective and to choose the finest networks,it is important to select a best decision making algorithm that chooses the most effective network for every application that the user requires,dependent on QoS measures.Therefore,the main goal of the proposed system is to provide an enhanced vertical handover(VHO)decision making programby using aMulti-CriteriaFuzzy-Based algorithm to choose the best network.Enhanced Multi-Criteria algorithms and a Fuzzy-Based algorithm is implemented successfully for optimal network selection and also to minimize the probability of false handover.Furthermore,a double packet buffer is utilized to decrease the packet loss by 1.5%and to reduce the number of handovers up to 50%compared to the existing systems.In addition,the network setup has an optimized mobilitymanagement system to supervise the movement of the mobile nodes.

关键词： Vertical handover mobility management handover decision systems multi-criteria fuzzy logic QoS false handover

Existence and exponential stability of weighted pseudo-almost periodic solutions for genetic regulatory networks with time-varying delays

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International Journal of Biomathematics 2021年第2期14卷 119-138页

作者： moez Ayachi University of Gabes Faculty of Sciences of GabesLR17ES11 Mathematics and Applications6072GabesTunisia

The importance of prediction for genetic regulatory network(GRNs)makes mathematical modeling a prominent tool.In this paper,we consider weighted pseudo-almost periodic solutions for a class of GRNs with time-varying delays.We establish the existence,uniqueness,and global exponential stability by employing the theory of dichotomy,the fixed point theorem,and differential inequality.A numerical example along with a graphical illustration are presented to support our main results.Our results extend existing GRNs models using almost periodic functions to support a wider range of regulatory processes.

关键词： Weighted pseudo-almost periodic solutions genetic regulatory networks time-varying delays global exponential stability

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Asian Journal of Andrology 2008年第2期10卷 177-187页

作者： Khaled Hamden Dorothee Silandre Christelle Delalande Abdefattah El feki Serge Carreau Animal Ecophysiology Faculty of Sciences Sfax-3018 Tunisia USC 20061NRA- EA 2608 Biochemistry Caen-14032 France

Aim： To examine the effects on rat aging of caloric restriction （CR1） and undernutrition （CR2） on the body and on testicular weights, on two enzymatic antioxidants （superoxide dismutase and catalase）, on lipid peroxidation and on the expression of testicular aromatase and estrogen receptors （ER）. Methods： CR was initiated in 1-month-old rats and carried on until the age of 18 months. Results： In control and CR2 rats an age-related decrease of the aromatase and of ER （α and β） gene expression was observed; in parallel a diminution of testicular weights, and of the total number and motility of epididymal spermatozo was recorded. In addition, aging in control and CR2 rats was accompartied by a significant decrease in testicular superoxide dismutase, catalase activities, and an increase in lipid peroxidation level （thiobarbituric acid reactive substance）, associated with alterations of spermatogenesis. Conversely, caloric restriction-treatment exerted a protective effect and all the parameters were less affected by aging. Conclusion： These results indicate that during aging, a low caloric diet （not undernutrition） is beneficial for spermatogenesis and likely improves the protection of the cells via an increase of the cellular antioxidant defense system in which aromatase/ ER could play a role. （Asian J Andro12008 Mar; 10： 177-187）

关键词： aging low caloric diet rat testis aromatase estrogen receptors antioxidants

MDR1 Haplotypes and G2677T/A Polymorphism Predict Imatinib Response in Tunisian Patients with Chronic Myeloid Leukemia

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Journal of Biosciences and Medicines 2022年第9期10卷 118-131页

作者： Mariam Ammar Sonia Ktari moez Medhaffar Hanen Ghozzi moez Elloumi Adnen Hammami Khaled Zeghal Lobna Ben Mahmoud Department of Pharmacology Faculty of Medicine University of Sfax Sfax Tunisia Faculty of Sciences of Sfax University of Sfax Sfax Tunisia Department of Bacteriology Faculty of Medicine University of Sfax Sfax Tunisia Department of Clinical Hematology Hedi Chaker Hospital University of Sfax Sfax Tunisia

Background: The role of human multidrug resistance gene (MDR1) SNPs in the interindividual variability of imatinib mesylate (IM) response has received considerable attention. We aimed to study the association between SNPs of the MDR1 gene (C1236T, G2677T/A, C3435T) and IM response in chronic myeloid leukemia (CML) patients. Method: A retrospective case-control study was conducted on 48 patients with CML undergoing IM therapy. All patients were genotyped using PCR-RFLP method. Results: The genotype and allele frequencies of C1236T and C3435T were not significantly different between CML patients responders and non-responders to IM (p > 0.05). The frequencies of 2677T allele and 2677TT genotype were significantly increased in CML patients IM responders which as compared with IM non-responders (50% vs 26.9%, p = 0.013 and 27.3% vs 3.8%, p = 0.029 respectively). Whereas the 2677AA genotype and CAC haplotype were found only in CML patients IM non-responders (15.4%). Conclusion: Pretreatment genotyping of G2677A/T appears to be useful for predicting IM resistance, which may allow the best choice of drug treatment for CML patients.

关键词： Chronic Myeloid Leukemia Imatinib Mesylate P-Glycoprotein Multi Drug Resistance G2677T/A Haplotype