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Interictal EEG showed generalized spike-and-wave complexes, predominantly in the left frontal area. Brain MRI was unremarkable. Exome sequencing revealed novel de novo mutations in DYNC1H1 c.4691A>T, p.(Glu1564Val) in Patient 1 and c.12536T>C, p.(Leu4179Ser) in Patient 2.
DYNC1H1 comprises a stem, stalk, and six AAA domains. Patient 2 is the second report of an AAA6 domain mutation without malformations of cortical development. The p.(Gly4072Ser) mutation in the AAA6 domain was also reported in a patient with ASD. It may be that the AAA6 domain has little effect on neuronal movement of DYNC1H1 along microtubules.
DYNC1H1 comprises a stem, stalk, and six AAA domains. Patient 2 is the second report of an AAA6 domain mutation without malformations of cortical development. The p.(Gly4072Ser) mutation in the AAA6 domain was also reported in a patient with ASD. It may be that the AAA6 domain has little effect on neuronal movement of DYNC1H1 along microtubules.
Familial hemiplegic migraine (FHM) is an inherited autosomal dominant disorder characterized by migraine with reversible hemiplegia. FHM1 is caused by variants in CACNA1A, encoding a P/Q type neuronal voltage-gated calcium channel α subunit, which is also associated with episodic ataxia type 2 (EA2). FHM2 is associated with ATP1A2, which codes for an Na
/K
-ATPase isoform 2 subunit.
We identified an FHM2 family, the mother and her daughter, with a novel variant in ATP1A2, p.Gly377Asp, located in a well-conserved P-type ATPase motif. Additionally, the mother harbored deletion in the CACNA1A, associated with EA2, but her daughter did not. The mother presented migraine with typical aura without motor deficit, whereas her daughter had migraine accompanied by recurrent motor deficit and altered consciousness. The additional CACNA1A deletion in the mother might serve as a modifier.
Our report emphasizes the importance of genetic analysis to diagnose neurological ion channel/transporter diseases.
Our report emphasizes the importance of genetic analysis to diagnose neurological ion channel/transporter diseases.The prediction of the hip joint force (HJF) is a fundamental factor for the prevention of edge loading in total hip arthroplasty. Naturally, the loading of the liner of the acetabular component depends on the HJF acting on the artificial joint. In contrast to dynamic musculoskeletal models, static models for HJF prediction do not require motion analysis of the patient. However, patient-specific adaptability and validity of static models have to be scrutinized. In this study, a modular framework for HJF prediction using static models is introduced to compare the results of different cadaver templates that are the basis of most static and dynamic models, and different scaling laws for the patient-specific adaptation with in vivo HJF of ten patients for one-leg stance and level walking. The results revealed the significant effect of the underlying cadaver template used for the prediction of the HJF (p less then 0.01). A higher degree of patient-specific scaling of the cadaver template often did not significantly reduce the prediction error. selleck chemicals llc Three static models with the lowest prediction errors were compared to results of dynamic models from literature. The prediction error of the peak HJF of the static models (median absolute errors below 15% body weight in magnitude and below 5° in direction) was similar in magnitude and even smaller in direction compared to dynamic models. The necessary reduction of a load-based target zone for the prevention of edge loading due to the uncertainty of the HJF prediction has to be considered in the preoperative planning. The framework for HJF prediction is openly accessible at https//github.com/RWTHmediTEC/HipJointForceModel.Hepatic encephalopathy (HE) includes cognitive, psychiatric and neuromotor abnormalities observed from brain dysfunction secondary to liver disease and/or porto-systemic shunting. HE can have a wide range of clinical manifestations ranging from trivial lack of awareness, decreased attention span, personality changes to confusion, seizures, coma, and death. The onset of HE in cirrhosis is a poor prognostic factor. While HE has a complex pathogenesis which is not completely understood, hyperammonemia plays an important role in neurotoxicity and brain dysfunction. Alkalemia facilitates the conversion of NH4+ to NH3, which is free to cross the blood-brain barrier exacerbating HE. Prompt recognition and correction of underlying risk factors is central to the management of HE.The reliability of gas turbine diagnostics clearly relies on reliable measurements. However, raw data reliability can be corrupted by label noise issues, as for instance an erroneous association between data and the respective unit of measure. Such issue, rarely investigated in the literature, is named Unit of Measure Inconsistency (UMI). Machine Learning classifiers are suitable tools to tackle the challenge of UMI detection. Thus, this paper investigates the capability of four Support Vector Machine approaches to detect UMIs. All approaches are tested on a dataset composed of field data taken on a fleet of Siemens gas turbines. The results of this study demonstrate that the Radial Basis Function with One-vs-One decomposition allows higher diagnostic accuracy.This article investigates adaptive output-feedback control problems for full-state constrained fractional order uncertain strict-feedback systems with unmeasured states and input saturation. By considering the structure of the systems, a fractional order observer is framed to estimate unmeasurable states. By using the backstepping procedure and barrier Lyapunov function, the adaptive controller with adaptation laws are proposed in each step. With the Lyapunov stability theory for fractional order systems, it proves all the states remain in their constraint bounds and the error system converges to a bounded set containing the origin. In the end, Two examples are presented to show the effectiveness of the designed control scheme.In this paper, the interconnected observer intervention-based security correction control idea is proposed for stochastic cyber-physical systems (CPSs) subjected to false data injection attacks (FDIAs). The FDIAs are injected into the controller-to-actuator channel by the adversary via wireless transmission. In particular, the FDIAs with heterogeneous effects are constructed, which consist of periodic attacks with unknown parameters and bias injection attacks with asymptotic convergence property. A novel interconnected adaptive observer structure is designed to online estimate the heterogeneous attack effects. The security correction control scheme with resilience is presented by integrating interconnected adaptive observer and robust technology. It is demonstrated that the impaired state signals can be corrected and desired security performance can be guaranteed for stochastic CPSs under FDIAs with heterogeneous effects. Finally, two simulation verifications, including a F-16 longitudinal dynamics system controlled by network, are established to verify the validity and feasibility for the presented strategy.
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