To define the spectrum of epilepsy in Wolf–Hirschhorn syndrome (WHS) better, we studied 87 patients (54 females, 33 males; median age 5.6 years; age range 1–25.6 years) with confirmed 4p16.3 ...deletion. On the basis of clinical charts, we retrospectively analyzed the evolution of the electroencephalogram (EEG) findings and seizures. Epilepsy occurred in 81 patients (93%) within the first 3 years of life. Sixty out of 81 (74%) had generalized tonic–clonic seizures, which was the only seizure pattern in 32. Tonic spasms occurred in 15 out of 81 (18%), complex partial seizures in 10 out of 81 (12%), and clonic seizures in 6 out of 81 (7%). Seizures were frequently triggered by fever (59 out of 81; 73%), and occurred in clusters in 36 out of 72 (50%). In the same 36 (50%), unilateral or generalized clonic or tonic–clonic status epilepticus occurred during the first 3 years of life. Twenty‐seven out of 81 patients (33%) developed atypical absences between 1 and 6 years, accompanied by a myoclonic component involving the eyelids and the hands. Distinctive EEG abnormalities were observed in 73 out of 81 (90%). Epilepsy was well controlled in 65 out of 81 (81%), mainly with valproate and phenobarbital, and improved with age in all. Thirty‐two out of 58 (55%) are currently seizure‐free. Seizures stopped at a median age of 4 years 6 months. Epilepsy represents a major clinical challenge in WHS; however, it has a good prognosis. Early diagnosis and treatment of atypical absences, subtle and often misdiagnosed, is mandatory.
Abstract
In this paper, a BP neural network model with 5-9-6 structure is constructed according to various fault gases and different fault types of drilling fluid. On the basis of BP neural network ...model, genetic algorithm and gray wolf algorithm are used to optimize the threshold and weight of neural network. By applying the system to Horizontal Well Changshen #5 on site used Grey Wolf algorithm, lost circulation problem in the horizontal section of the reservoir was effectively controlled, ensuring rapid and safe drilling operation.
•A nonlinear strategy of control parameter and a modified position-updating equation are presented.•The proposed algorithm is used to solve large-scale global optimization problems.•Only 15,000 ...number of Function evaluations are required to solve all dimensional functions.•It is a low computational cost optimization technique.•It converges fast as compared to other population-based optimization algorithms.
Grey wolf optimizer algorithm was recently presented as a new heuristic search algorithm with satisfactory results in real-valued and binary encoded optimization problems that are categorized in swarm intelligence optimization techniques. This algorithm is more effective than some conventional population-based algorithms, such as particle swarm optimization, differential evolution and gravitational search algorithm. Some grey wolf optimizer variants were developed by researchers to improve the performance of the basic grey wolf optimizer algorithm. Inspired by particle swarm optimization algorithm, this study investigates the performance of a new algorithm called Inspired grey wolf optimizer which extends the original grey wolf optimizer by adding two features, namely, a nonlinear adjustment strategy of the control parameter, and a modified position-updating equation based on the personal historical best position and the global best position. Experiments are performed on four classical high-dimensional benchmark functions, four test functions proposed in the IEEE Congress on Evolutionary Computation 2005 special session, three well-known engineering design problems, and one real-world problem. The results show that the proposed algorithm can find more accurate solutions and has higher convergence rate and less number of fitness function evaluations than the other compared techniques.
Context
. The mass loss of helium-burning stars, which are partially or completely stripped of their outer hydrogen envelope, is a catalyst of the cosmic matter cycle and decisive ingredient of ...massive star evolution. Yet, its theoretical fundament is only starting to emerge with major dependencies still to be uncovered.
Aims
. A temperature or radius dependence is usually not included in descriptions for the mass loss of classical Wolf-Rayet (cWR) stars, despite being crucial for other hot star wind domains. We thus aim to determine whether such a dependency will also be necessary for a comprehensive description of mass loss in the cWR regime.
Methods
. Sequences of dynamically consistent stellar atmosphere models were calculated with the hydrodynamic branch of the PoWR code along the temperature domain, using different choices for the luminosity, mass, and surface abundances. For the first time, we allowed nonmonotonic velocity fields when solving the hydrodynamic equation of motion. The resulting velocity structures were then interpolated for the comoving-frame radiative transfer, ensuring that the main wind characteristics were preserved.
Results
. We find a strong dependence of the mass-loss rate with the temperature of the critical/sonic point which mainly reflects the different radii and resulting gravitational accelerations. Moreover, we obtain a relation between the observed effective temperature and the transformed mass-loss rate
Ṁ
t
which seems to be largely independent of the underlying stellar parameters. The relation is shifted when different density contrasts are assumed for the wind clumping. Below a characteristic value of log (
Ṁ
t
M
⊙
yr
−1
) −4.5, the slope of this relation changes and the winds become transparent for He
II
ionizing photons.
Conclusions
. The mass loss of cWR stars is a high-dimensional problem but also shows inherent scalings which can be used to obtain an approximation of the observed effective temperature. For a more realistic treatment of cWR stars and their mass loss in stellar evolution, we recommend the inclusion of a temperature dependency and ideally the calculation of hydrodynamic structure models.
It is generally accepted that the facial phenotype of Wolf-Hirschhorn syndrome is caused by deletions of either Wolf-Hirschhorn critical regions 1 or 2 (WHSCR 1-2). Here, we identify a 432 kb ...deletion located 600 kb proximal to both WHSCR1-2 in a patient with a WHS facial phenotype. Seven genes are underlying this deletion region including FAM193a, ADD1, NOP14, GRK4, MFSD10, SH3BP2, TNIP2. The clinical diagnosis of WHS facial phenotype was confirmed by 3D facial analysis using dense surface modeling. Our results suggest that the WHSCR1-2 flanking sequence contributes directly or indirectly to the severity of WHS. Sequencing the Wolf-Hirschhorn syndrome candidate 1 and 2 genes did not reveal any mutations. Long range position effects of the deletion that could influence gene expression within the WHSCR were excluded in EBV cell lines derived from patient lymphoblasts. We hypothesize that either (1) this locus harbors regulatory sequences which affect gene expression in the WHSCR1-2 in a defined temporal and spatial developmental window or (2) that this locus is additive to deletions of WHSCR1-2 increasing the phenotypic expression.
We investigate the impact of tidal interactions, before any mass transfer, on various properties of the stellar models. We study the conditions for obtaining homogeneous evolution triggered by tidal ...interactions, and for avoiding any Roche lobe overflow (RLOF) during the main-sequence phase. By homogeneous evolution, we mean stars evolving with a nearly uniform chemical composition from the centre to the surface. We consider the case of rotating stars computed with a strong core-envelope coupling mediated by an interior magnetic field. Models with initial masses between 15 and 60 M, for metallicities between 0.002 and 0.014 and with initial rotation equal to 30% and 66% the critical rotation on the zero age main sequence, are computed for single stars and for stars in close binary systems. Close binary models help us to understand homogeneous massive stars, fast rotating Wolf-Rayet stars, and progenitors of long soft gamma-ray bursts, even at high metallicities.
Wolf-Hirschhorn syndrome (WHS) (OMIM 194190) is a contiguous gene syndrome with an estimated prevalence of around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region ...(Wolf-Hirschhorn Syndrome Critical region-WHSCR) on chromosome 4p16.3. Its core features are typical facial gestalt, growth retardation, intellectual disability, developmental delay, and seizures. Prenatal diagnosis of WHS helps clinicians and parents make informed decisions about pregnancy management. In this research, a 31-year-old woman (gravida 1, para 0) underwent amniocentesis at 18 weeks gestation because of the short nasal bone of the fetus on prenatal ultrasound. Chromosomal microarray analysis (CMA) on uncultured amniocytes revealed a de novo 11.36-Mb deletion on chromosome 4p16.3p15.33, spanning from position 40 000 to 11 400 000 (hg19). After genetic counselling and being informed of the unfavorable prognosis, the parents decided to terminate the pregnancy. We provide a detailed description of a de novo 11.36-Mb deletion on chromosome 4p16.3p15.33 (Wolf-Hirschhorn syndrome). CMA has more advantages than karyotype analysis in detecting chromosomal microdeletions/microduplications. A combination of karyotype analysis, CMA, prenatal ultrasound, and genetic counseling is helpful for the prenatal diagnosis of chromosomal deletions/duplications.
Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial dysmorphism, growth retardation, ...developmental delay, intellectual disability and seizure disorders. Recently, NSD2 gene located within the 165 kb Wolf-Hirschhorn syndrome critical region was identified as the key causal gene responsible for most if not all phenotypes of Wolf-Hirschhorn syndrome. So far, eight NSD2 loss of function variants have been reported in patients from different parts of the world, all were de novo variants.
In our study, we performed whole exome sequencing for two patients from one family. We also reviewed more NSD2 mutation cases in pervious literature.
A novel loss of function NSD2 variant, c.1577dupG (p.Asn527Lysfs*14), was identified in a Chinese family in the proband and her father both affected with intellectual disability. After reviewing more NSD2 mutation cases in pervious literature, we found none of them had facial features that can be recognized as Wolf-Hirschhorn syndrome. In addition, we have given our proband growth hormone and followed up with this family for 7.5 years.
Here we reported the first familial NSD2 variant and the long-term effect of growth hormone therapy for patients. Our results suggested NSD2 mutation might cause a distinct intellectual disability and short stature syndrome.
The unmanned aerial vehicle (UAV) has been a research focus in recent years. The path planner is a key element of the unmanned aerial vehicle autonomous control module. In this paper, the modified ...wolf pack search (WPS) algorithm is applied to compute the quasi-optimal trajectories for the rotor wing UAVs in the complex three-dimensional (3D) spaces including the real and fake 3D spaces. Moreover, it adopts the multi-objective cost function. In the path planning process, some concepts in the genetic algorithm (GA) are applied to realize the WPS algorithm. Then, the crossover and mutation operators in the GA method are introduced to improve the original WPS algorithm. Considering the dynamic properties of the vehicle, the path smoothing process based on the cubic B-spline curve is used to make the planning path suitable for the fixed wing UAVs. Simulation results show that this approach is efficient for the rotor wing UAVs and the fixed wing UAVs when taking into account of all kinds of constraints and the path generated is flyable. Moreover, the comparisons of the four algorithms show that the trajectories produced by the modified WPS algorithm are far superior to the original WPS algorithm, the GA and the random search way under the same conditions.
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