1.A method based on wavelet package transform for denoising electromyographic signal.
Journal of Biomedical Engineering 2008;25(2):323-326
The detection and analysis of electromyographic signal is of far reaching importance for clinical diagnosis as well as for convalescence medicine. Electromyographic signal is a kind of biological signal in the background full of noise, so it is somewhat difficult to detect and extract the electromyographic signal. In this paper is discussed how to use the method of wavelet package transform to denoise the electromyographic signal on the basis of its feature and its relationship with noise. The results of simulation and application in the Electromyographic Evoked Potential Measuring System independently developed by our laboratory illuminate that the method is effective for denoising electromyographic signal.
Algorithms
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Bionics
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Electromyography
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methods
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Humans
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Signal Processing, Computer-Assisted
2.Nitrogen-doped carbon@TiO2 double-shelled hollow spheres as an electrochemical sensor for simultaneous determination of dopamine and paracetamol in human serum and saliva
Yang HUI ; Cao GONGXUN ; Huang YONGJUN ; Lin YE ; Zheng FENGYING ; Lin LUXIU ; Liu FENGJIAO ; Li SHUNXING
Journal of Pharmaceutical Analysis 2022;12(3):436-445
As the most commonly used antipyretic and analgesic drug,paracetamol(PA)coexists with neuro-transmitter dopamine(DA)in real biological samples.Their simultaneous determination is extremely important for human health,but they also interfere with each other.In order to improve the conductivity,adsorption affinity,sensitivity,and selectivity of TiO2-based electrochemical sensor,N-doped carbon@-TiO2 double-shelled hollow sphere(H-C/N@TiO2)is designed and synthesized by simple alcoholic and hydrothermal method,using polystyrene sphere(PS)as a template.Meanwhile,TiO2 hollow spheres(H-TiO2)or N-doped carbon hollow spheres(H-C/N)are also prepared by the same method.H-C/N@TiO2 has good conductivity,charge separation,and the highly enhanced and stable current responses for the detection of PA and DA.The detection limit and linear range are 50.0 nmol/L and 0.3-50 μmol/L for PA,40.0 nmol/L and 0.3-50 μmol/L for DA,respectively,which are better than those of carbon-based sen-sors.Moreover,this electrochemical sensor,with high selectivity,strong anti-interference,high reli-ability,and long time durability,can be used for the simultaneous detection of PA and DA in human blood serum and saliva.The high electrochemical performance of H-C/N@TiO2 is attributed to the multi-functional combination of different layers,because of good conductivity,absorption and electrons transfer ability from in-situ N-doped carbon and electrocatalytic activity from TiO2.
3.Analysis of NOVA2 gene variant in a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities.
Guangyu ZHANG ; Sansong LI ; Lei YANG ; Mingmei WANG ; Gongxun CHEN ; Dengna ZHU
Chinese Journal of Medical Genetics 2023;40(2):213-216
OBJECTIVE:
To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB).
METHODS:
A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.
RESULTS:
The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.
CONCLUSION
The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.
Child
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Female
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Humans
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Pregnancy
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Autistic Disorder/genetics*
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Brain
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Computational Biology
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Genetic Counseling
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Mutation
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Nerve Tissue Proteins/genetics*
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Neuro-Oncological Ventral Antigen
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Neurodevelopmental Disorders
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RNA-Binding Proteins
4.Analysis of CYP2U1 gene variants in a child with Hereditary spastic paraplegia type 56.
Guangyu ZHANG ; Sansong LI ; Lei YANG ; Mingmei WANG ; Gongxun CHEN ; Dengna ZHU
Chinese Journal of Medical Genetics 2023;40(5):577-581
OBJECTIVE:
To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP).
METHODS:
A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. And trio-whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing. Bioinformatic software was used to analyze the conservation of variant sites.
RESULTS:
The child was a 2-year-and-10-month-old female with clinical manifestations including increased muscle tone of lower limbs, pointed feet, and cognitive language delay. Trio-WES results showed that she had harbored compound heterozygous variants of c.865C>T (p.Gln289*) and c.1126G>A (p.Glu376Lys) of the CYP2U1 gene. And the corresponding amino acid for c.1126G>A (p.Glu376Lys) is highly conserved among various species. Based on guidelines from the American College of Medical Genetics and Genomics, the c.865C>T was predicted as a pathogenic variant (PVS1+PM2_Supporting), and c.1126G>A was rated as a variant of uncertain significance (PM2_Supporting+PM3+PP3).
CONCLUSION
The child was diagnosed with HSP type 56 due to compound variants of the CYP2U1 gene. Above findings have enriched the mutation spectrum of the CYP2U1 gene.
Female
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Humans
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Cytochrome P450 Family 2/genetics*
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Mutation
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Pedigree
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Phenotype
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Spastic Paraplegia, Hereditary/genetics*
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Infant
5.Clinical features and genetic analysis of a child with EAST/SeSAME syndrome.
Guangyu ZHANG ; Mingmei WANG ; Gongxun CHEN ; Lei YANG ; Sansong LI ; Dengna ZHU
Chinese Journal of Medical Genetics 2023;40(7):838-841
OBJECTIVE:
To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability.
METHODS:
A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.
RESULTS:
Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4).
CONCLUSION
The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.
Humans
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Child
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Female
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Intellectual Disability/genetics*
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Hearing Loss, Sensorineural/genetics*
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Ataxia
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Genetic Diseases, X-Linked
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Mutation