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As a critical component of power battery, the quality of nickel-plated punched steel strip (NPSS) is closely related to the performance of battery. In practice, however, the real-time detection for defects of NPSS with limited computating resources is a challenging task. Current research on vision-based strip defect detectors emphasizes the use of large neural network models to pursue high accuracy while ignoring the training cost and hardware requirements. To accelerate the model update and deployment cycles and reduce the application cost, a lightweight detection network for accurate and fast detection of surface defects in NPSS is developed in this article. First, a new lightweight backbone network, lightweight efficient detection network (LEDNet), is designed to extract features. Depth dynamic convolution is used as the basic structure of the network to reduce the computational complexity while adaptively extracting effective features. Thereafter, a refine-residual bidirectional aggregation network is built to enhance the bidirectional propagation and reuse high- and low-level features by further optimizing and adjusting the extracted features. On this basis, feature aggregation capability is improved. Finally, the intersection-over-union k-means algorithm is used to adjust the anchor box size, which balances the significant difference in aspect ratio of surface defects of NPSS. Experimental results on the NPSS defect dataset show that our network detection accuracy can reach 87.17%, the single-sheet detection rate is 0.09 s, and the computational complexity is reduced. Compared with the state-of-the-art detectors, it achieves a strong competitive accuracy and low computational effort, which fully meets the accuracy and real-time requirements in the production environment of NPSS.

BackgroundLMNA-related muscular dystrophy is caused by mutations in LMNAgene. We aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with LMNAmutations in an attempt to establish genotype-phenotype correlation.MethodsThe clinical presentations of patients with LMNA-related muscular dystrophy were recorded using retrospective and prospective cohort study. LMNAmutation analysis was performed by Sanger sequencing or next-generation sequencing. Mosaicism was detected by personal genome machine amplicon deep sequencing for mosaicism.ResultsEighty-four patients were identified to harbour LMNAmutations. Forty-one of those were diagnosed with LMNA-related congenital muscular dystrophy (L-CMD), 32 with Emery-Dreifuss muscular dystrophy (EDMD) and 11 with limb-girdle muscular dystrophy type 1B (LGMD1B). We identified 21 novel and 29 known LMNAmutations. Two frequent mutations were identified: c.745C>T and c.1357C>T. A correlation between the location of mutation and the clinical phenotype was observed: mutations affecting the head and coil 2A domains mainly occurred in L-CMD, while the coil 2B and Ig-like domains mainly related to EDMD and LGMD1B. We found somatic mosaicism in one parent of four probands. Muscle biopsies revealed 11 of 20 biopsied L-CMD exhibited inflammatory changes, and muscle cell ultrastructure showed abnormal nuclear morphology.ConclusionsOur detailed clinical and genetic analysis of 84 patients with LMNA-related muscular dystrophy expands clinical spectrum and broadens genetic variations caused by LMNAmutations. We identified 21 novel and 29 known LMNAmutations and found two frequent mutations. A correlation between the location of mutation and the clinical severity was observed. Preliminary data suggested that low-dose corticosteroid treatment may be effective.

The path tracking is a basic function of the autonomous vehicle. Generally, it is difficult to realize the path tracking with high accuracy at high speeds. To solve this problem, an adaptivity-enhanced path tracking system (AEPTS) is investigated in this paper. The adaptive performance of this AEPTS is realized via three aspects. The first is to achieve preview distance adaptivity by a dynamic multi-point preview model (DMPPM), which provides the desired course deviation according to the vehicle speed and the reference path. The second is to improve the adaptivity of an adaptive fuzzy steering controller (AFSC) with an adaptive steering gain model which is built via the path curvature and vehicle speed. The third is that an optimal parameter surface is devised to enhance the adaptivity of the AEPTS at high speeds. Such a surface can provide the optimal coefficients for the AEPTS, and it is implemented using the particle swarm optimization (PSO) and a curve fitting method. At last, simulation experiments are given to verify the adaptivity of the proposed method.

BackgroundMutations in the PCDH19gene have mainly been reported in female patients with epilepsy. To date, PCDH19mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism.ObjectiveWe aimed to investigate the occurrence of mosaic PCDH19mutations in 42 families comprising at least one patient with PCDH19-related epilepsy.MethodsTwo male patients with mosaic PCDH19variants were identified using targeted next-generation sequencing. Forty female patients with PCDH19variants were identified by Sanger sequencing and Multiple Ligation Probe Amplification (MLPA). Microdroplet digital PCR was used to quantify the mutant allelic fractions (MAFs) in 20 families with PCDH19variants.ResultsFive mosaic individuals, four males and one female, were identified in total. Mosaic variant was confirmed in multiple somatic tissues from one male patient and in blood from the other male patient. Among 22 female patients harbouring a newly occurred PCDH19variant identified by Sanger sequencing and MLPA, Sanger sequencing revealed two mosaic fathers (9%, 2/22), one with two affected daughters and the other with an affected child. Two asymptomatic mosaic fathers were confirmed as gonosomal mosaicism, with MAFs ranging from 4.16% to 37.38% and from 1.27% to 19.13%, respectively. In 11 families with apparent de novo variants, 1 female patient was identified as a mosaic with a blood MAF of 26.72%.ConclusionOur study provides new insights into phenotype-genotype correlations in PCDH19related epilepsy and the finding of high-frequency mosaicism has important implications for genetic counselling.

We aimed to delineate the clinical profiles of Chinese patients with Allan-Herndon-Dudley Syndrome (AHDS), an X-linked intellectual disability caused by SLC16A2mutation and affecting males only. Clinical features of five males from four Chinese families, who manifested with severe cognition impairment, developmental delay, hypotonia accompanied by dystonia, were described and summarized. All of them displayed a distinctive thyroid hormone change, with increased FT3, reduced FT4, and normal TSH. Three of them had neuroimaging tests and all presented with hypomyelination. Two of them demonstrated some facial anomalies, including long face, narrow forehead and tent mouth. Targeted next-generation sequencing associated with intellectual disability was performed. Four SLC16A2mutations (c.916C>T, p.Gln306*; c.61G>T, p.Glu21*; c.695_699delATGGT, p.Asn232Sfs*7; c.42delC, p.Trp15Glyfs*69) were identified, of which three SLC16A2mutations were novel. Our findings expand mutational spectrumof SLC16A2and provide support for delineating the clinical features of Chinese patients with AHDS. In addition, this is the first report of AHDS in Chinese cohort. We recommend that male patients with intellectual disability, developmental delay and severe hypotonia, especially those with distinctive thyroid hormone change should be tested for SLC16A2mutations.

Benign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We used Sanger sequencing and targeted next-generation sequencing to detect gene mutations in a Chinese cohort of patients with these three disorders. A total of 79 families were collected, including 4 BFNE, 7 BFNIE, and 68 BFIE. Genetic testing led to the identification of gene mutations in 60 families (60 out of 79, 75.9%). A total of 42 families had PRRT2mutations, 9 had KCNQ2mutations, 8 had SCN2Amutations, and 1 had a GABRA6mutation. In total three of four BFNE families were detected with KCNQ2mutations. Mutations were detected in all BFNIE families, including 3 KCNQ2mutations, 3 SCN2Amutations, and 1 PRRT2mutation. Gene mutations were identified in 50 out of 68 BFIE families (73.5%), including 41 PRRT2mutations (41 out of 68, 60.3%), 5 SCN2Amutations, 3 KCNQ2mutations, and 1 GABRA6mutation. Our results confirmed that mutations in KCNQ2, SCN2A, and PRRT2are major genetic causes of benign familial epilepsy in the first year of life in the Chinese population. KCNQ2is the major gene related to BFNE. PRRT2is the main gene responsible for BFIE.

Patients with KCNMA1gene mutation present with paroxysmal dyskinesia and/or epilepsy. We describe a male with heterozygous mutation c.3158A>G, (p.N1053S) in KCNMA1gene, displaying paroxysmal dyskinesia and moderate mental retardation. We also review 20 reported cases with KCNMA1mutation. We summarize that there is clinical heterogeneity in these patients. The onset age of episodic events ranges from 20 days to 15 years old. 6/21 (29%) patients merely had epilepsy, 10/21(48%) patients had paroxysmal dyskinesia only, and 5/21 (24%) had both epilepsy and paroxysmal dyskinesia. Seizure types were various, including absence, generalized tonic–clonic seizures, and myoclonic seizures. Paroxysmal dyskinesia was nonkinesigenic, but can be induced by alcohol, fatigue or stress. Most patients had variable degrees of mental retardation. The clinical outlook for this condition is in general not good. Epilepsy or non-epileptic events were resistant in most patients. Most patients presented with mild to severe intellectual disability and developmental delay.

This is the first report of Chinese familial cases with Rett syndrome (RTT) or X‐linked mental retardation (XLMR). RTT is a neurodevelopmental disorder that almost exclusively affects females. Most RTT cases are sporadic. We have studied eight cases with MECP2mutations in six Chinese families, including three females and five males with RTT or XLMR. All shared identical MECP2mutations with their mothers. The three females fulfilled the diagnostic criteria for RTT, while the five males were XLMR. A random X‐chromosome inactive (XCI) pattern was seen in all the three female patients and two mothers while a skewed XCI in the rest four mothers. The clinical manifestations and pathogenic gene spectrum between male and female patients were different. The different MECP2mutations and different XCI pattern may be the determinants of the phenotypic heterogeneity between the family members.

Mutations in the fukutin-related protein (FKRP) gene have been associated with dystroglycanopathies, which are common in Europe but rare in Asia. Our study aimed to retrospectively analyze and characterize the clinical, myopathological and genetic features of 12 Chinese patients with FKRPmutations. Three patients were diagnosed with congenital muscular dystrophy type 1C (MDC1C) and nine patients were diagnosed with limb girdle muscular dystrophy type 2I (LGMD2I). Three muscle biopsy specimens had dystrophic changes and reduced glycosylated a-dystroglycan staining, and two showed reduced expression of laminin a2. Two known and 13 novel mutations were identified in our single center cohort. Interestingly, the c.545A>G mutation was found in eight of the nine LGMD2I patients as a founder mutation and this founder mutation in Chinese patients differs from the one seen in European patients. Moreover, patients homozygous for the c.545A>G mutation were clinically asymptomatic, a less severe phenotype than in compound heterozygous patients with the c.545A>G mutation. The 13 novel mutations of FKRP significantly expanded the mutation spectrum of MDC1C and LGMD2I, and the different founder mutations indicate the ethnic difference in FKRPmutations.

Protein O-mannosyltransferase 1 (POMT1) is a glycosyltransferase involved in a-dystroglycan glycosylation. POMT1mutations cause a wide spectrum of clinical conditions from Walker–Warburg syndrome (WWS), which involves muscle, eye and brain abnormalities, to mild forms of limb-girdle muscular dystrophy with mental retardation. We aimed to elucidate the impact of different POMT1mutations on the clinical phenotype. We report five Chinese patients with POMT1mutations: one had a typical clinical manifestation of WWS, and the other four were diagnosed with congenital muscular dystrophy with mental retardation of varying severity. We analyzed the influence of the POMT1mutations on POMT activity by assaying the patients’ muscles and cultured skin fibroblasts. We demonstrated different levels of decreased POMT activity that correlated highly with decreased a-dystroglycan glycosylation. Our results suggest that POMT activity is inversely proportional to clinical severity, and demonstrate that skin fibroblasts can be used for differential diagnosis of patients with a-dystroglycanopathies. We have provided clinical, histological, enzymatic and genetic evidence of POMT1involvement in five unrelated Chinese patients.

In this paper, a new robust H∞ intelligent decentralised control (RHIDC) strategy is proposed for the trajectory tracking problem of robot manipulators. The proposed control system is comprised of a computed torque controller and neural robust controller with new learning algorithm. Based on Lyapunov stability theorem and inequality technology, it is shown that the proposed controller can guarantee stability of closed-loop error systems and satisfactory tracking performances. The proposed approach shows that computed torque control method is also valid for controlling uncertain robotic manipulators as long as compensative controller is appropriately designed.

Fukuyamatype congenital muscular dystrophy FCMD is an autosomal recessive disorder, characterized by severe muscular dystrophy associated with brain malformation. FCMD is the second most common form of muscular dystrophy and one of the most common autosomal recessive diseases among the Japanese population; however, no typical FCMD cases have been reported in any other population. In this study, we report on the first identification of a Chinese FCMD patient; our findings are supported by clinical, histological, and magnetic resonance imaging MRI evidence, as well as fukutingene mutational analyses. The patient presented with neonatal hypotonia, seizures, and delayed motor and speech development. Additional testing revealed cerebral and cerebellar gyrus abnormalities with white matter signal intensity changes, elevated serum creatine kinase CK levels, and dystrophic skeletal muscle with αdystroglycan hypoglycosylation, and normal βdystroglycan and merosin expression. Genetic analysis of the fukutingene showed one copy with a Japanese founder 3kilobase kb retrotransposal insertion in the 3′noncoding region and the other copy with a known c.139C>T mutation. This is the first FCMD case reported in the Chinese population and the first case in which the 3kb insertion has been found outside of the Japanese population. This report emphasizes the importance of considering the fukutinfounder mutation for diagnostic purposes outside of Japan. © 2009 WileyLiss, Inc.

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Direct sequencing of exons 3 to 35 and the exon–intron boundaries of the CACNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty-eight variations have been detected in the CACNA1H gene, and, among the variations identified, 12 were missense mutations and only found in 14 of the 118 patients in a heterozygous state, but not in any of 230 unrelated controls. The identified missense mutations occurred in the highly conserved residues of the T-type calcium channel gene. Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy. Ann Neurol 2003

Direct sequencing of exons 3 to 35 and the exon–intron boundaries of the CACNA1Hgene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty‐eight variations have been detected in the CACNA1Hgene, and, among the variations identified, 12 were missense mutations and only found in 14 of the 118 patients in a heterozygous state, but not in any of 230 unrelated controls. The identified missense mutations occurred in the highly conserved residues of the T‐type calcium channel gene. Our results suggest that CACNA1Hmight be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy. Ann Neurol 2003

The lateral stability is the crucial feature in a distributed drive electronic vehicle (DDEV). A high speed DDEV in a sharp turn may lose the lateral stability when it encounters fast varied road adhesion coefficients. To solve this problem, a BP-PID controller-based multi-model control system (MMCS) is designed for DDEV via direct yaw-moment control (DYC) in this paper. Firstly, according to the varied road adhesion coefficients, the working circumstance of DDEV is summarized as seven kinds of typical types. A sub-model set is established to accurately describe the operating mode of the working circumstance. Secondly, based on the sub-model set, a nonlinear sub-controller set is constructed with seven off-line tuning BP-PID controllers and an on-line tuning one. The off-line tuning controller can fast calculate the required direct yaw-moment, and the on-line tuning controller is aimed to achieve a high control accuracy. Thirdly, a controller switching policy is composed of an error judgement policy and a model matching policy. Such switching policy is utilized to precisely identify the working circumstance of DDEV and implement switching control. Finally, simulation experiments prove that the designed MMCS shows a significant control performance and guarantees the lateral stability of DDEV under varied road adhesion coefficients. [ABSTRACT FROM AUTHOR]