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- Chatron, N., et al.
(författare)
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
- 2020
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Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 143:5, s. 1447-1461
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Tidskriftsartikel (refereegranskat)abstract
- Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1(-/-) mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the c-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele.
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- Hommadi, Ali H., et al.
(författare)
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Evaluation of Actual Evapotranspiration and Crop Coefficient in Carrot by Remote Sensing Methodology Using Drainage and River Water to Overcome Reduced Water Availability
- 2023
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Ingår i: Engineering. - : Scientific Research Publishing. - 1947-3931 .- 1947-394X. ; 15:05, s. 352-366
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Tidskriftsartikel (refereegranskat)abstract
- Searching for alternative methods for traditional irrigation is World trend at days due to a reduction in water and increased of drought due to climate changes therefore farmers need use modern methods of scheduling water and minimizing water losses while also increasing yield. To meet the future increasing demands water and food there is a need to utilize alternative methods to reduce evaporation, transpiration and deep percolation of water. Any countries use recycled water (drain and sewage) and desalination water from the sea or drains to irrigate crops plus computing actual crop evapotranspiration (ETc) so as to calculate the amount of water to apply to a crop.The paper aims to assess the actual evaporation and evaporation coefficient of carrots, by planting carrots in a field and the crop was exposed to several sources of water (DW and RW) and comparing ETc, Kc and production among plots of three sites (A, B and C). The study used two types of irrigation water (drain water (DW) and river water (RW)). The results were to monthly rate and accumulated actual evapotranspiration to C (irrigation by RW only) more than A (67% RW and 33% DW) and B (17% RW and 83%DW) via 7% and 58%, respectively. The yield to C more than A and B by 17% and 75%, respectively. In conclusion the use of DW can cause a reduction in crop consumptive of carrot crops also causes a reduction in yield, crop length, root length, root size, canopy of crop, number of leaves and biomass of the plant therefore, the drainage water needs to treated before irrigating crops And making use of it to irrigate the fields and fill the shortfall in the amount of water from the river. The drain water helped on filling the water shortage due to climate changes and giving production of carrot crop but less than river water.
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- Hommadi, Ali H., et al.
(författare)
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Scheduling the Laterals of Shattulhilla River by Utilizing the Genetic Algorithm as Water Sustainability Technique
- 2024
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Ingår i: Proceedings of the 4th International Conference on Recent Innovation in Engineering ICRIE 2023, University of Duhok, College of Engineering, 13th – 14th September 2023. - : University of Garmian. ; , s. 84-93
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Konferensbidrag (refereegranskat)abstract
- Open channels are very important to deliver water from main sources to laterals especially for developing countries. Production is subjective by the way that the water is scheduled, and this scheduling is subject to several irrigation constraints. In open channel projects, for instance, maximum discharge of the laterals and main channels, depending on the size of their dimensions and the water requirements for fields. The current paper shows how efficient water scheduling, regarding the delivering water from the main channel to laterals in consequent time slots, can be done by utilizing a genetic algorithm optimisation technique. This research is intended to be applied for scheduling the Shattulhilla River in Babylon City and has broad applications for open channel projects in Iraq. The obtained results clarify how the genetic algorithm optimisation modelling is a sophisticated tool which operators of irrigation projects could now utilize to timetable open channels of irrigation systems.
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- Hussien, Abdelazim, et al.
(författare)
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Recent Advances in Harris Hawks Optimization : A Comparative Study and Applications
- 2022
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Ingår i: Electronics. - : MDPI. - 2079-9292. ; 11:12
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Forskningsöversikt (refereegranskat)abstract
- The Harris hawk optimizer is a recent population-based metaheuristics algorithm that simulates the hunting behavior of hawks. This swarm-based optimizer performs the optimization procedure using a novel way of exploration and exploitation and the multiphases of search. In this review research, we focused on the applications and developments of the recent well-established robust optimizer Harris hawk optimizer (HHO) as one of the most popular swarm-based techniques of 2020. Moreover, several experiments were carried out to prove the powerfulness and effectivness of HHO compared with nine other state-of-art algorithms using Congress on Evolutionary Computation (CEC2005) and CEC2017. The literature review paper includes deep insight about possible future directions and possible ideas worth investigations regarding the new variants of the HHO algorithm and its widespread applications.
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| 7. |
- Rosenhahn, Erik, et al.
(författare)
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
- 2022
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Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 109:8, s. 1421-1435
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Tidskriftsartikel (refereegranskat)abstract
- PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications.
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| 8. |
- Daqaq, Fatima, et al.
(författare)
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A leader supply-demand-based optimization for large scale optimal power flow problem considering renewable energy generations
- 2023
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Ingår i: Scientific Reports. - : NATURE PORTFOLIO. - 2045-2322. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- The supply-demand-based optimization (SDO) is among the recent stochastic approaches that have proven its capability in solving challenging engineering tasks. Owing to the non-linearity and complexity of the real-world IEEE optimal power flow (OPF) in modern power system issues and like the existing algorithms, the SDO optimizer necessitates some enhancement to satisfy the required OPF characteristics integrating hybrid wind and solar powers. Thus, a SDO variant namely leader supply-demand-based optimization (LSDO) is proposed in this research. The LSDO is suggested to improve the exploration based on the simultaneous crossover and mutation mechanisms and thereby reduce the probability of trapping in local optima. The LSDO effectiveness has been first tested on 23 benchmark functions and has been assessed through a comparison with well-regarded state-of-the-art competitors. Afterward, Three well-known constrained IEEE 30, 57, and 118-bus test systems incorporating both wind and solar power sources were investigated in order to authenticate the performance of the LSDO considering a constraint handling technique called superiority of feasible solutions (SF). The statistical outcomes reveal that the LSDO offers promising competitive results not only for its first version but also for the other competitors.
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| 9. |
- Hashim, Ahmed, et al.
(författare)
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Pattern of novel psychoactive substance use among patients presented to the poison control centre of Ain Shams University Hospitals, Egypt : A cross-sectional study
- 2022
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Ingår i: Heliyon. - : Elsevier BV. - 2405-8440. ; 8:8
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Tidskriftsartikel (refereegranskat)abstract
- Background: Novel psychoactive substances (NPSs) are relatively new substances in the illicit drug market, notpreviously listed in the United Nations Office on Drugs and Crime (UNDOC). Strox and Voodoo are consideredsome of the most popular blends of NPS in the Egyptian drug market.Objectives: The current study was conducted to assess NPS's use pattern: Voodoo and Strox among acutelyintoxicated patients presented to the poison control center of Ain Shams University Hospitals (PCC- ASUH).Methods: A single center based cross-sectional study was carried out in the PCC-ASUH among acutely intoxicatedpatients presenting to the emergency department (ED) over four months (from January–April 2019. using apreviously adopted and validated Fahmy and El-Sherbini socioeconomic scale (SES). Data were presented asmean, median and range as appropriate. Both smoking and crowding indexes were calculated and presented aspreviously reported.Results: Fifty-one patients were presented to the ED of PCC-ASUH during the study period. A total of 96.1% (n ¼49) were males. The mean age was 25 7.5 years. The most common NPS used was Strox: 54.9% (n ¼ 28),followed by Voodoo: 27.4% (n ¼ 14). Neurological and gastrointestinal (GI) symptoms were the most frequentpresentations. The most common motive behind NPS use was the desire to give a trial of new psychoactivesubstances. The mean SES score was 35.1 13.17. Most patients have the preparatory as the highest education36.0% (n ¼ 18).Conclusions: NPS use is common among young males in preparatory education from different social classes,starting it most commonly as a means to experiencing a new high. Neurological and GI manifestations are themost common presenting symptoms of NPS intoxication.
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| 10. |
- Hashim, Fatma A., et al.
(författare)
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An efficient adaptive-mutated Coati optimization algorithm for feature selection and global optimization
- 2023
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Ingår i: Alexandria Engineering Journal. - : ELSEVIER. - 1110-0168 .- 2090-2670. ; 85, s. 29-48
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Tidskriftsartikel (refereegranskat)abstract
- The feature selection (FS) problem has occupied a great interest of scientists lately since the highly dimensional datasets might have many redundant and irrelevant features. FS aims to eliminate such features and select the most important ones that affect classification performance. Metaheuristic algorithms are the best choice to solve this combinatorial problem. Recent researchers invented and adapted new algorithms, hybridized many algorithms, or enhanced existing ones by adding some operators to solve the FS problem. In our paper, we added some operators to the Coati optimization algorithm (CoatiOA). The first operator is the adaptive s-best mutation operator to enhance the balance between exploration and exploitation. The second operator is the directional mutation rule that opens the way to discover the search space thoroughly. The final enhancement is controlling the search direction toward the global best. We tested the proposed mCoatiOA algorithm in solving) in solving challenging problems from the CEC'20 test suite. mCoatiOA performance was compared with Dandelion Optimizer (DO), African vultures optimization algorithm (AVOA), Artificial gorilla troops optimizer (GTO), whale optimization algorithm (WOA), Fick's Law Algorithm (FLA), Particle swarm optimization (PSO), Harris hawks optimization (HHO), and Tunicate swarm algorithm (TSA). According to the average fitness, it can be observed that the proposed method, mCoatiOA, performs better than the other optimization algorithms on 8 test functions. It has lower average standard deviation values compared to the competitive algorithms. Wilcoxon test showed that the results obtained by mCoatiOA are significantly different from those of the other rival algorithms. mCoatiOA has been tested as a feature selection algorithm. Fifteen benchmark datasets of various types were collected from the UCI machine-learning repository. Different evaluation criteria are used to determine the effectiveness of the proposed method. The proposed mCoatiOA achieved better results in comparison with other published methods. It achieved the mean best results on 75% of the datasets.
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