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Genome-wide investigation to assess copy number variants in the Italian local chicken population 被引量:1
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作者 Filippo Cendron Martino Cassandro Mauro Penasa 《Journal of Animal Science and Biotechnology》 SCIE CAS CSCD 2024年第2期563-577,共15页
Background Copy number variants(CNV)hold significant functional and evolutionary importance.Numerous ongoing CNV studies aim to elucidate the etiology of human diseases and gain insights into the population structure ... Background Copy number variants(CNV)hold significant functional and evolutionary importance.Numerous ongoing CNV studies aim to elucidate the etiology of human diseases and gain insights into the population structure of livestock.High-density chips have enabled the detection of CNV with increased resolution,leading to the identification of even small CNV.This study aimed to identify CNV in local Italian chicken breeds and investigate their distribution across the genome.Results Copy number variants were mainly distributed across the first six chromosomes and primarily associated with loss type CNV.The majority of CNV in the investigated breeds were of types 0 and 1,and the minimum length of CNV was significantly larger than that reported in previous studies.Interestingly,a high proportion of the length of chromosome 16 was covered by copy number variation regions(CNVR),with the major histocompatibility complex being the likely cause.Among the genes identified within CNVR,only those present in at least five animals across breeds(n=95)were discussed to reduce the focus on redundant CNV.Some of these genes have been associated to functional traits in chickens.Notably,several CNVR on different chromosomes harbor genes related to muscle development,tissue-specific biological processes,heat stress resistance,and immune response.Quantitative trait loci(QTL)were also analyzed to investigate potential overlapping with the identified CNVR:54 out of the 95 gene-containing regions overlapped with 428 QTL associated to body weight and size,carcass characteristics,egg production,egg components,fat deposition,and feed intake.Conclusions The genomic phenomena reported in this study that can cause changes in the distribution of CNV within the genome over time and the comparison of these differences in CNVR of the local chicken breeds could help in preserving these genetic resources. 展开更多
关键词 CHICKEN Copy number variant CONSERVATION Local breed SNP
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Genetic variants in C1GALT1 are associated with gastric cancer risk by influencing immune infiltration 被引量:1
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作者 Mengfan Guo Jingyuan Liu +7 位作者 Yujuan Zhang Jingjing Gu Junyi Xin Mulong Du Haiyan Chu Meilin Wang Hanting Liu Zhengdong Zhang 《Journal of Biomedical Research》 CAS CSCD 2024年第4期348-357,共10页
Core 1 synthase glycoprotein-N-acetylgalactosamine 3-β-galactosyltransferase 1(C1GALT1)is known to play a critical role in the development of gastric cancer,but few studies have elucidated associations between geneti... Core 1 synthase glycoprotein-N-acetylgalactosamine 3-β-galactosyltransferase 1(C1GALT1)is known to play a critical role in the development of gastric cancer,but few studies have elucidated associations between genetic variants in C1GALT1 and gastric cancer risk.By using the genome-wide association study data from the database of Genotype and Phenotype(dbGAP),we evaluated such associations with a multivariable logistic regression model and identified that the rs35999583 G>C in C1GALT1 was associated with gastric cancer risk(odds ratio,0.83;95% confidence interval[CI],0.75-0.92;P=3.95×10^(-4)).C1GALT1 mRNA expression levels were significantly higher in gastric tumor tissues than in normal tissues,and gastric cancer patients with higher C1GALT1 mRNA levels had worse overall survival rates(hazards ratio,1.33;95%CI,1.05-1.68;P_(log-rank)=1.90×10^(-2)).Furthermore,we found that C1GALT1 copy number differed in various immune cells and that C1GALT1 mRNA expression levels were positively correlated with the infiltrating levels of CD4^(+)T cells and macrophages.These results suggest that genetic variants of C1GALT1 may play an important role in gastric cancer risk and provide a new insight for C1GALT1 into a promising predictor of gastric cancer susceptibility and immune status. 展开更多
关键词 O-GLYCOSYLATION genetic variants immune status gastric cancer
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A new rhombohedral phase and its 48 variants inβtitanium alloy
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作者 Xin-nan WANG Ming HAN +2 位作者 Fu-rong ZHANG Guang-ming ZHAO Zhi-shou ZHU 《Transactions of Nonferrous Metals Society of China》 SCIE EI CAS CSCD 2024年第9期2849-2863,共15页
A new rhombohedral phase(termed R′)in a solution-aging-treated titanium alloy(Ti-4.5Al-6.5Mo-2Cr-2Nb-1V-1Sn-1Zr,wt.%)was identified.Its accurate Bravais lattice parameters were determined by a novel unit cell reconst... A new rhombohedral phase(termed R′)in a solution-aging-treated titanium alloy(Ti-4.5Al-6.5Mo-2Cr-2Nb-1V-1Sn-1Zr,wt.%)was identified.Its accurate Bravais lattice parameters were determined by a novel unit cell reconstruction method based on conventional selected-area electron diffraction(SAED)technique.The orientation relationship between R'phase and BCC phase was revealed.The results show that the R′phase is found to have 48crystallographically equivalent variants,resulting in rather complicated SAED patterns with high-order reflections.A series of in-situ SAED patterns were taken along both low-and high-index zone axes,and all weak and strong reflections arising from the 48 variants were properly explained and directly assigned with self-consistent Miller indices,confirming the presence of the rhombohedral phase.Additionally,some criteria were also proposed for evaluating the indexed results,which together with the Bravais lattice reconstruction method shed light on the microstructure characterization of even unknown phases in other alloys. 展开更多
关键词 titanium alloy rhombohedral phase Bravais lattice reconstruction variant orientation relationship
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Contribution of Genomic Surveillance in the Detection and Monitoring of SARS-CoV-2 Variants during the 6 Pandemic Waves in the Central African Republic from 2020 to 2023
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作者 Clotaire Donatien Rafaï Ernest Lango-Yaya +6 位作者 Marie Roseline Darnicka Belizaire Ouoko Fa-Ti-Gbia Maurel Annicet Adonis Marcel Mbeko Simaleko Jean-Baptiste Roungou Oscar Senzongo Karl G. Njuwa Fai Boniface Koffi 《Journal of Tuberculosis Research》 2024年第3期151-164,共14页
Objective: The COVID-19 pandemic has highlighted the need to strengthen diagnosis and genomic surveillance capacities. In 2021, Central African managed five waves of COVID-19 by integrating genomic surveillance into t... Objective: The COVID-19 pandemic has highlighted the need to strengthen diagnosis and genomic surveillance capacities. In 2021, Central African managed five waves of COVID-19 by integrating genomic surveillance into their health monitoring system. This study sought to report surveillance data from the National Laboratory of Clinical Biology and Public Health and describe the circulation of SARS-CoV-2 variants. Materials and Methods: This retrospective, descriptive observational study spans three years, from April 2020 to November 2023. It was conducted on a population of consenting volunteers from across the Central African Republic, who were tested using RT-PCR on nasopharyngeal samples. Data with sufficient information were obtained from the National Laboratory of Clinical Biology and Public Health (LNBCSP) databases. Sequencing was largely carried out at the National Institute of Biomedical Research (INRB) in Kinshasa until May 2023, and subsequently at the LNBCSP. Results and Discussion: Out of 97,864 RT-PCR tests performed, 9,764 were positive, resulting in a prevalence of 9.98%. The average age of the patients was 39.97 years ± 13.76, and the male-to-female sex ratio was 2.12. RT-PCR test positivity was significantly associated with age (p = 0.001), sex (p = 0.013) and clinical manifestations. Ten variants circulated during the five recorded waves, with Omicron (B.1.1.529), Delta (B.1.617.2) variants being predominant. Notably, the B.1.620 and B.640 variants were prominent during the second wave. Conclusion: This retrospective study provides key insights into the COVID-19 pandemic in the CAR. It identifies risk factors and details the circulation of various SARS-CoV-2 variants. Enhancing national genomic surveillance capacities would enable the country to better respond to future pandemic challenges. 展开更多
关键词 SARS-CoV-2 variants Central African Republic RT-PCR
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New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy
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作者 Wen-Chao Cao Qing-Shan Chen +2 位作者 Run Gan Tao Huang Xiao-He Yan 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第1期107-112,共6页
AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 m... AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy.Targeted sequence capture array technique was used to screen potential pathologic variants.Polymerase chain reaction and Sanger sequencing were used to confirm the screening results.RESULTS:Fundus examination showed round macular lesions appeared in both eyes.Optical coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right eye.Fundus autofluorescence showed patchy hyper-autofluorescence in the macula.Visual field examination indicates central defects in both eyes.Electroretinogram(ERG)and multifocal ERG showed no obvious abnormalities.Fundus fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left eye.We found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous variants.Both variants are likely pathogenic according to the ACMG criteria.Multimodal imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal disorders.CONCLUSION:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy. 展开更多
关键词 MACULOPATHY RECESSIVE compound heterozygous variants RP1L1
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Sex Determination in Homo sapiens as a Multi-Step Process: Potential for Development of Variants and Sex Differences in Disease Risk
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作者 David A. Hart 《Journal of Biomedical Science and Engineering》 2024年第1期13-34,共22页
Reproduction via cis-binary mechanisms appears to have evolved fairly early in the evolution of complex organisms, and a system committed to prior to evolution of humans. While the evolution of a chromosomal-specific ... Reproduction via cis-binary mechanisms appears to have evolved fairly early in the evolution of complex organisms, and a system committed to prior to evolution of humans. While the evolution of a chromosomal-specific approach has been a successful strategy for survival of a large variety of species including humans, the fidelity of sex determination leading to 100% cis-binary outcomes is not achieved in many species, with evidence for homosexual or bisexual behaviour evident in more than 1500 species. Thus, such outcomes indicates that sex determination is a multi-step process and not a single event, and as such, could lead to the appearance of variants during the process which developed much earlier than humans. Variants could arise either due to intrinsic variation in the steps of determination, or also be influenced by environmental factors of a biological or psychological nature. In contrast to homosexual variants which do not require interventions such as hormone therapy or surgery, expression of gender dysphoria, is more based in psychology, but also has biological underpinnings and can be influenced by such hormonal interventions and surgery. While the numbers of those with gender dysphoria is small (~0.6% - 1.0% of population), the attention given to this issue raises the possibility of biological and psychological environmental factors impacting the emergence of some of those expressing gender dysphoria. Furthermore, transitioning from male-to-female or female-to-male can have consequences regarding disease risks latter in life, including the appearance of autoimmune diseases. This review will attempt to review some of the evidence regarding sex determination, discuss why the system has potentially not been improved upon during evolution, how a potential role for sex chromosome function on neurodevelopment may be central to variation in humans, and how commitment to the current strategy is likely integrated into other sex-related events such as puberty, pregnancy, and menopause to ensure species survival. It will also discuss how variants in sex determination could contribute to sex differences in disease risk and how epigenetic modifications could play a role in such risk. . 展开更多
关键词 Sex Determination variant Development Fidelity of Sex Determination Biological Sex Determination Species Variation
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Lab results of COVID-19 patients:Omicron vs delta variants
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作者 Dana Avraham Amir Herman +3 位作者 Gal Shaham Arkady Shklyar Elina Sulim Maria Oulianski 《World Journal of Virology》 2024年第2期71-77,共7页
BACKGROUND The coronavirus disease 2019(COVID-19)virus has been a world-known pan-demic since February 2020.Multiple variances had been established;the most common variants in Israel were omicron and delta.AIM To anal... BACKGROUND The coronavirus disease 2019(COVID-19)virus has been a world-known pan-demic since February 2020.Multiple variances had been established;the most common variants in Israel were omicron and delta.AIM To analyze and compare laboratory values in the"omicron"and"delta"variants of the coronavirus by conducting follow-up examinations and laboratory audits on COVID-19 patients admitted to our institution.METHODS A retrospective study,two groups,50 patients in each group.Patients examined positive for COVID-19 were divided into groups according to the common variant at the given time.We reviewed demographic data and laboratory results such as complete blood count and full chemistry,including electrolytes and coagulation parameters.RESULTS The mean age was 52%,66.53±21.7 were female.No significance was found comparing laboratory results in the following disciplines:Blood count,hemo-globin,and lymphocytes(P=0.41,P=0.87,P=0.97).Omicron and delta variants have higher neutrophil counts,though they are not significantly different(P=0.38).Coagulation tests:Activated paritial thromoplastin test and international normalized ratio(P=0.72,P=0.68).We found no significance of abnormality for all electrolytes.CONCLUSION The study compares laboratory results of blood tests between two variants of the COVID-19 virus–omicron and delta.We found no significance between the variants.Our results show the need for further research with larger data as well as the need to compare all COVID-19 variants. 展开更多
关键词 COVID-19 CORONAVIRUS Omicron variant Delta variant
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Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency
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作者 Bi-xin XI Si-ying LIU +3 位作者 Yu-ting XU De-dong ZHANG Qun HU Ai-guo LIU 《Current Medical Science》 SCIE CAS 2024年第2期426-434,共9页
Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and mole... Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional methods.To this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese family.Methods:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype diagnosis.Novel compound heterozygous variants of the GPI gene,c.174C>A(p.Asn58Lys)and c.1538G>T(p.Trp513Leu),were identified using whole-exome and Sanger sequencing.The AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI structure.Results:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and 14.This study identified novel compound heterozygous variants associated with GPI deficiency.These pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino acids.Conclusion:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling. 展开更多
关键词 glucose-6-phosphate isomerase deficiency whole-exome sequencing compound heterozygous variants genetic characterization hydrogen bond
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Functional analysis of the novel mitochondrial tRNA^(Trp)and tRNA^(Ser(AGY))variants associated with type 2 diabetes mellitus
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作者 Yu Ding Xue-Jiao Yu +1 位作者 Qin-Xian Guo Jian-Hang Leng 《World Journal of Diabetes》 SCIE 2024年第8期1753-1763,共11页
BACKGROUND Mutations in mitochondrial tRNA(mt-tRNA)genes that result in mitochondrial dysfunction play important roles in type 2 diabetes mellitus(T2DM).We previously reported a large Chinese pedigree with maternally ... BACKGROUND Mutations in mitochondrial tRNA(mt-tRNA)genes that result in mitochondrial dysfunction play important roles in type 2 diabetes mellitus(T2DM).We previously reported a large Chinese pedigree with maternally inherited T2DM that harbors novel mt-tRNA^(Trp)A5514G and tRNA^(Ser(AGY))C12237T variants,however,the effects of these mt-tRNA variants on T2DM progression are largely unknown.AIM To assess the potential pathogenicity of T2DM-associated m.A5514G and m.C12237T variants at genetic,molecular,and biochemical levels.METHODS Cytoplasmic hybrid(cybrid)cells carrying both m.A5514G and m.C12237T variants,and healthy control cells without these mitochondrial DNA(mtDNA)variants were generated using trans-mitochondrial technology.Mitochondrial features,including mt-tRNA steady-state level,levels of adenosine triphosphate(ATP),mitochondrial membrane potential(MMP),reactive oxygen species(ROS),mtDNA copy number,nicotinamide adenine dinucleotide(NAD+)/NADH ratio,enzymatic activities of respiratory chain complexes(RCCs),8-hydroxy-deoxyguanine(8-OhdG),malondialdehyde(MDA),and superoxide dismutase(SOD)were examined in cell lines with and without these mt-tRNA variants.RESULTS Compared with control cells,the m.A5514G variant caused an approximately 35%reduction in the steady-state level of mt-tRNA^(Trp)(P<0.0001);however,the m.C12237T variant did not affect the mt-tRNA^(Ser(AGY))steady-state level(P=0.5849).Biochemical analysis revealed that cells with both m.A5514G and m.C12237T variants exhibited more severe mitochondrial dysfunctions and elevated oxidative stress than control cells:ATP,MMP,NAD+/NADH ratio,enzyme activities of RCCs and SOD levels were markedly decreased in mutant cells(P<0.05 for all measures).By contrast,the levels of ROS,8-OhdG and MDA were significantly increased(P<0.05 for all measures),but mtDNA copy number was not affected by m.A5514G and m.C12237T variants(P=0.5942).CONCLUSION The m.A5514G variant impaired mt-tRNA^(Trp)metabolism,which subsequently caused mitochondrial dysfunction.The m.C12237T variant did not alter the steady-state level of mt-tRNA^(Ser(AGY)),indicating that it may be a modifier of the m.A5514G variant.The m.A5514G variant may exacerbate the pathogenesis and progression of T2DM in this Chinese pedigree. 展开更多
关键词 Type 2 diabetes mellitus Mitochondrial tRNA genes Novel variants Oxidative stress Mitochondrial dysfunctions
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Integration between Genomic and Computational Statistical Surveys for the Screening of SNP Genetic Variants in Inflammatory Bowel Disease (IBD) Pediatric Patients*
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作者 Dago Dougba Noel Koffi N’Guessan Bénédicte Sonia +8 位作者 Dagnogo Olefongo Daramcoum Wentoin Alimata Marie-Pierre Mauro Giacomelli Dagnogo Dramane Eboulé Ago Eliane Rebecca Yao Saraka Didier Martial Diarrassouba Nafan Giovanni Malerba Raffaele Badolato 《Computational Molecular Bioscience》 2024年第3期146-191,共46页
Inflammatory bowel diseases (IBD) are complex multifactorial disorders that include Crohn’s disease (CD) and ulcerative colitis (UC). Considering that IBD is a genetic and multifactorial disease, we screened for the ... Inflammatory bowel diseases (IBD) are complex multifactorial disorders that include Crohn’s disease (CD) and ulcerative colitis (UC). Considering that IBD is a genetic and multifactorial disease, we screened for the distribution dynamism of IBD pathogenic genetic variants (single nucleotide polymorphisms;SNPs) and risk factors in four (4) IBD pediatric patients, by integrating both clinical exome sequencing and computational statistical approaches, aiming to categorize IBD patients in CD and UC phenotype. To this end, we first aligned genomic read sequences of these IBD patients to hg19 human genome by using bowtie 2 package. Next, we performed genetic variant calling analysis in terms of single nucleotide polymorphism (SNP) for genes covered by at least 20 read genomic sequences. Finally, we checked for biological and genomic functions of genes exhibiting statistically significant genetic variant (SNPs) by introducing Fitcon genomic parameter. Findings showed Fitcon parameter as normalizing IBD patient’s population variability, as well as inducing a relative good clustering between IBD patients in terms of CD and UC phenotypes. Genomic analysis revealed a random distribution of risk factors and as well pathogenic SNPs genetic variants in the four IBD patient’s genome, claiming to be involved in: i) Metabolic disorders, ii) Autoimmune deficiencies;iii) Crohn’s disease pathways. Integration of genomic and computational statistical analysis supported a relative genetic variability regarding IBD patient population by processing IBD pathogenic SNP genetic variants as opposite to IBD risk factor variants. Interestingly, findings clearly allowed categorizing IBD patients in CD and UC phenotypes by applying Fitcon parameter in selecting IBD pathogenic genetic variants. Considering as a whole, the study suggested the efficiency of integrating clinical exome sequencing and computational statistical tools as a right approach in discriminating IBD phenotypes as well as improving inflammatory bowel disease (IBD) molecular diagnostic process. 展开更多
关键词 Inflammatory Bowel Disease (IBD) Crohn Disease (CD) Ulcerative Colitis (UC) Clinical Exome Analysis Computational Statistic SNP Genetic variants
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Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration:A case report
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作者 Zhao-Na Song Yan Cheng +8 位作者 Dan-Dan Wang Ming-Jun Li Xiang-Rong Zhao Fa-Wang Li Zhen Liu Xiao-Ru Zhu Xiao-Dong Jia Yu-Fang Wang Feng-Fan Liang 《World Journal of Clinical Oncology》 2024年第11期1428-1434,共7页
BACKGROUND Intracranial epidermoid cyst(IEC)transformation to malignant squamous cell carcinoma(SCC)is extremely rare,and its etiology is yet unknown.Currently,SCC is treated by performing surgery,followed by a combin... BACKGROUND Intracranial epidermoid cyst(IEC)transformation to malignant squamous cell carcinoma(SCC)is extremely rare,and its etiology is yet unknown.Currently,SCC is treated by performing surgery,followed by a combination of radiotherapy and chemotherapy.It is crucial to identify efficient and trustworthy therapeutic targets for SCC to improve its diagnosis,prognosis,and treatment.CASE SUMMARY In this study,we report the case of a 47-year-old female patient with SCC,which progressed from IEC in the left internal capsule region.The patient was sought treatment at our hospital for severe diplopic vision,accompanied with speech disorder and memory loss.Based on the clinical and postoperative pathology,this patient was finally diagnosed with SCC.To identify disease-causing variants,whole exome sequencing(WES)was performed on the proband.WES revealed two pathogenic missense mutations on Gap junction protein beta 2(GJB2)(c.257C>T)and Toll-like receptor 2(TLR2)(c.1039A>G),respectively.CONCLUSION This study provided the first clinical evidence for demonstrating the role of GJB2 and TLR2 in IEC development and treatment.We further confirmed WES as a robust and reliable technique for underlying rare and complex disease-related genetic factor identification. 展开更多
关键词 Intracranial epidermoid cyst Squamous cell carcinoma Whole exome sequencing variants Case report
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Clinicopathological features and medium-term outcomes of histologic variants of primary focal segmental glomerulosclerosis in adults:A retrospective study
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作者 Nazarul Hassan Jafry Shumaila Manan +1 位作者 Rahma Rashid Muhammed Mubarak 《World Journal of Nephrology》 2024年第1期14-24,共11页
BACKGROUND The Columbia classification identified five histological variants of focal segmental glomerulosclerosis(FSGS).The prognostic significance of these variants remains controversial.AIM To evaluate the relative... BACKGROUND The Columbia classification identified five histological variants of focal segmental glomerulosclerosis(FSGS).The prognostic significance of these variants remains controversial.AIM To evaluate the relative frequency,clinicopathologic characteristics,and medium-term outcomes of FSGS variants at a single center in Pakistan.METHODS This retrospective study was conducted at the Department of Nephrology,Sindh Institute of Urology and Transplantation,Karachi,Pakistan on all consecutive adults(≥16 years)with biopsy-proven primary FSGS from January 1995 to December 2017.Studied subjects were treated with steroids as a first-line therapy.The response rates,doubling of serum creatinine,and kidney failure(KF)with replacement therapy were compared between histological variants using ANOVA or Kruskal Wallis,and Chi-square tests as appropriate.Data were analyzed by SPSS version 22.0.P-value≤0.05 was considered significant.RESULTS A total of 401 patients were diagnosed with primary FSGS during the study period.Among these,352(87.7%)had a designated histological variant.The not otherwise specified(NOS)variant was the commonest,being found in 185(53.9%)patients,followed by the tip variant in 100(29.1%)patients.Collapsing(COL),cellular(CEL),and perihilar(PHI)variants were seen in 58(16.9%),6(1.5%),and 3(0.7%)patients,respectively.CEL and PHI variants were excluded from further analysis due to small patient numbers.The mean follow-up period was 36.5±29.2 months.Regarding response rates of variants,patients with TIP lesions achieved remission more frequently(59.5%)than patients with NOS(41.8%)and COL(24.52%)variants(P<0.001).The hazard ratio of complete response among patients with the COL variant was 0.163[95%confidence interval(CI):0.039-0.67]as compared to patients with NOS.The TIP variant showed a hazard ratio of 2.5(95%CI:1.61-3.89)for complete remission compared to the NOS variant.Overall,progressive KF was observed more frequently in patients with the COL variant,43.4%(P<0.001).Among these,24.53%of patients required kidney replacement therapy(P<0.001).The hazard ratio of doubling of serum creatinine among patients with the COL variant was 14.57(95%CI:1.87-113.49)as compared to patients with the TIP variant.CONCLUSION In conclusion,histological variants of FSGS are predictive of response to treatment with immunosuppressants and progressive KF in adults in our setup. 展开更多
关键词 ADULTS Columbia classification Focal segmental glomerulosclerosis Histological variants Kidney failure Kidney failure with replacement therapy
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基于改进U-net的少样本煤岩界面图像分割方法 被引量:1
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作者 卢才武 宋义良 +3 位作者 江松 章赛 王懋 纪凡 《金属矿山》 CAS 北大核心 2024年第1期149-157,共9页
煤岩图像语义分割技术是煤岩界面识别的重要研究方向,现有的语义分割模型通常依赖于大样本数据集进行训练,然而目前已标注的煤岩图像数据样本难以获取,并且缺乏公开数据集。针对以上问题,提出了一种基于改进U-net模型的样本煤岩界面图... 煤岩图像语义分割技术是煤岩界面识别的重要研究方向,现有的语义分割模型通常依赖于大样本数据集进行训练,然而目前已标注的煤岩图像数据样本难以获取,并且缺乏公开数据集。针对以上问题,提出了一种基于改进U-net模型的样本煤岩界面图像分割模型。将裁剪后具有更强特征提取能力且结构上更为简单的VGG16替换U-net的原始骨干特征提取网络,提升对图像信息的特征提取能力并获得更快的训练速度,在U-net网络的跳跃连接和解码器上采样部分引入注意力机制模块,对提取的特征层进行处理,提升模型对煤岩界面图像关键特征的提取能力,提高分割精度。使用迁移学习方法对改进的模型进行预训练,提高模型泛化能力同时避免过拟合,使模型更适用于小样本数据集训练。通过使用自制的煤岩界面数据集对所改进的网络模型性能进行验证,并将该模型与经典Unet、DeepLabv3+、PspNet、HrNet网络模型进行了对比。试验结果表明:在同样使用由125幅煤岩界面图片构建的小样本数据集进行训练的情况下,所提改进模型相较于经典U-net模型在分割精确度和检测效率方面都有显著提升,模型精确度提高了1.84%,平均交并比提高了5.34%,类别平均像素准确率提高了0.48%,检测速度增幅为5.3%。同时,与其他网络模型相比,所提改进模型在小样本煤岩界面图像的语义分割中优势显著,表明所提改进思路的有效性。 展开更多
关键词 煤岩识别 语义分割 少样本学习 u-net 深度学习 机器视觉技术
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基于残差U-Net和自注意力Transformer编码器的磁场预测方法 被引量:1
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作者 金亮 尹振豪 +2 位作者 刘璐 宋居恒 刘元凯 《电工技术学报》 EI CSCD 北大核心 2024年第10期2937-2952,共16页
利用有限元方法对几何结构复杂的电机和变压器进行磁场分析,存在仿真时间长且无法复用的问题。因此,该文提出一种基于残差U-Net和自注意力Transformer编码器的磁场预测方法。首先建立永磁同步电机(PMSM)和非晶合金变压器(AMT)有限元模型... 利用有限元方法对几何结构复杂的电机和变压器进行磁场分析,存在仿真时间长且无法复用的问题。因此,该文提出一种基于残差U-Net和自注意力Transformer编码器的磁场预测方法。首先建立永磁同步电机(PMSM)和非晶合金变压器(AMT)有限元模型,得到深度学习训练所需的数据集;然后将Transformer模块与U-Net模型结合,并引入短残差机制建立ResUnet-Transformer模型,通过预测图像的像素实现磁场预测;最后通过Targeted Dropout算法和动态学习率调整策略对模型进行优化,解决拟合问题并提高预测精度。计算实例证明,ResUnet-Transformer模型在PMSM和AMT数据集上测试集的平均绝对百分比误差(MAPE)均小于1%,且仅需500组样本。该文提出的磁场预测方法能减少实际工况和多工况下精细模拟和拓扑优化的时间和资源消耗,亦是虚拟传感器乃至数字孪生的关键实现方法之一。 展开更多
关键词 有限元方法 电磁场 深度学习 u-net TRANSFORMER
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基于改进U-Net的根系表型参数测量系统
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作者 赵亚凤 刘晓璐 +3 位作者 王冬冬 王孟雪 宋文华 胡峻峰 《森林工程》 北大核心 2024年第4期127-136,共10页
为解决背景噪声干扰下,从微根管采集的原位根系图像中难以直接提取准确的表型参数问题,提出一种基于改进U-Net的微根管根系表型参数测量系统。在U-Net网络中引入优化后的空洞空间金字塔池化模块(Atrous Spatial Pyramid Pooling,ASPP)... 为解决背景噪声干扰下,从微根管采集的原位根系图像中难以直接提取准确的表型参数问题,提出一种基于改进U-Net的微根管根系表型参数测量系统。在U-Net网络中引入优化后的空洞空间金字塔池化模块(Atrous Spatial Pyramid Pooling,ASPP)和高效通道注意力模块(Efficient Channel Attention,ECA),增大感受野,提升模型捕捉根系细节特征的能力,获取精确的根系分割图像。结果表明,改进的U-Net模型平均交并比和平均像素精度分别为87.07%和91.85%,相较原始U-Net分别提高了2.49%和2.3%。与WinRHIZO根系分析软件测量值相比,根长度和面积决定系数分别为0.951 8和0.984 9,Spearman相关系数分别为0.972 5和0.975 7,可以实现根系长度和面积的准确测量。 展开更多
关键词 根系表型 微根管 图像分割 参数测量 u-net
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基于U-NET的双分支海上SAR溢油检测模型
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作者 盛辉 曹文俊 +3 位作者 刘善伟 王大伟 杨俊芳 张杰 《海洋科学》 CAS CSCD 北大核心 2024年第7期1-10,共10页
为提高海上溢油SAR(Synthetic Aperture Radar)检测的准确率,本文提出一种基于U-NET和注意力门的海上溢油SAR检测模型(AW-net),该模型将U-NET中传统的单输入编码器替换为双分支编码器,分别输入纹理特征和SAR灰度特征,并进一步采用注意... 为提高海上溢油SAR(Synthetic Aperture Radar)检测的准确率,本文提出一种基于U-NET和注意力门的海上溢油SAR检测模型(AW-net),该模型将U-NET中传统的单输入编码器替换为双分支编码器,分别输入纹理特征和SAR灰度特征,并进一步采用注意力门融合纹理信息和灰度信息。实验利用1景海丝一号(HISEA-1)SAR数据构建样本训练集进行AW-net模型训练,分别应用1景HISEA-1 SAR数据和1景Radarsat-2SAR数据开展模型测试,溢油检测准确率均优于U-NET、AttentionU-NET和FCN等语义分割模型,说明该模型具有较强的强鲁棒性和应用潜力。 展开更多
关键词 溢油检测 SAR u-net 注意力门 双分支编码器
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面向青花瓷碎片图像的U-Net++拼接网络
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作者 张海波 寇姣姣 +3 位作者 杨兴 海琳琦 周明全 耿国华 《计算机辅助设计与图形学学报》 EI CSCD 北大核心 2024年第3期379-387,共9页
针对现有图像拼接方法存在拼接处伪影以及非重叠区域内容失真,导致较低的准确性和鲁棒性的问题,提出一种基于U-Net++消除伪影的青花瓷碎片图像拼接方法.首先估计待拼接图像单应性矩阵;然后将单应性矩阵应用于结构拼接阶段,得到图像粗拼... 针对现有图像拼接方法存在拼接处伪影以及非重叠区域内容失真,导致较低的准确性和鲁棒性的问题,提出一种基于U-Net++消除伪影的青花瓷碎片图像拼接方法.首先估计待拼接图像单应性矩阵;然后将单应性矩阵应用于结构拼接阶段,得到图像粗拼接结果;最后以图像粗拼接结果作为先验信息,在内容校正阶段改进现有的U-Net,利用U-Net++细化粗拼接结果,得到最终图像精确拼接.以青花瓷碎片图像数据集与相关经典方法进行实验的结果表明,在3个评价指标中,所提方法的峰值信噪比提高约13%,均方根误差降低约33%,均方误差降低57%左右;该方法具有较小的误差比,不仅能够提高图像拼接质量,而且表现出较好的鲁棒性. 展开更多
关键词 图像拼接 u-net++ 单应性矩阵估计 内容校正 青花瓷碎片
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一种改进U-Net网络的心电图分类算法研究
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作者 王建荣 尉向前 +2 位作者 辛彬彬 高睿丰 李国翚 《重庆理工大学学报(自然科学)》 CAS 北大核心 2024年第1期142-149,共8页
基于CPSC-2018十二导联数据,提出了一种U-Net网络和注意力机制结合的心电图分类算法。首先,针对数据集数据长度长短不一的问题,对数据进行等长处理和归一化处理。然后,利用U-Net网络中跳层连接和编码解码方式,对预处理后较长的数据进行... 基于CPSC-2018十二导联数据,提出了一种U-Net网络和注意力机制结合的心电图分类算法。首先,针对数据集数据长度长短不一的问题,对数据进行等长处理和归一化处理。然后,利用U-Net网络中跳层连接和编码解码方式,对预处理后较长的数据进行处理。在U-Net网络解码的最后一层加入注意力机制对抗噪声,提升模型的有效信息关注度和准确性。最后,利用CPSC-2018数据集进行验证。实验结果表明:所提模型能够取得较好的分类效果,识别房颤(AF)和右束支传导阻滞(RBBB)心律失常的精准率、召回率、F1值都可以达到90%以上,平均F1值可以达到82.5%。 展开更多
关键词 心律失常 心电图 u-net网络 注意力机制
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基于AttentionR2U-net的岩石(体)关键节理智能识别与参数提取
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作者 孙浩 代宗晟 +1 位作者 金爱兵 陈岩 《东北大学学报(自然科学版)》 EI CAS CSCD 北大核心 2024年第1期101-110,共10页
针对岩石(体)表面复杂节理网中关键节理的智能识别与参数提取问题,提出一种基于AttentionR2U-net网络与节理几何特征模型耦合识别的方法.在R2U-net网络的基础上引入注意门(attentiongate)改进网络,通过定性与定量的方法对边坡节理图像... 针对岩石(体)表面复杂节理网中关键节理的智能识别与参数提取问题,提出一种基于AttentionR2U-net网络与节理几何特征模型耦合识别的方法.在R2U-net网络的基础上引入注意门(attentiongate)改进网络,通过定性与定量的方法对边坡节理图像和混凝土、龟裂土、常见脆性岩石裂隙图像的识别结果分别作准确性及泛化能力检验;利用AttentionR2U-net网络耦合节理几何特征的方法识别关键节理,提取原始节理和关键节理的几何参数并对其迹长、面积及倾角作差异性分析.研究结果表明:针对岩石(体)节理识别,本文算法的Dice相似系数从U-net网络的0.965提升至0.990,且明显优于传统算法,故本文算法在岩石(体)节理识别上具有更强的可靠性与优越性;针对混凝土、龟裂土和大理岩、花岗岩、砂岩等脆性岩石裂隙的识别,本文算法的Dice相似系数均在0.953以上,故本文算法具有较强的泛化能力.与原始节理网络相比,关键节理网络优势迹长由0.732m显著增大至1.835m,节理倾角分布形式和优势倾角组均不变,优势迹长和倾角的节理占比均显著增大. 展开更多
关键词 岩石(体) 关键节理 AttentionR2u-net网络 智能识别 参数提取
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基于U-net神经网络的油浸式变压器绕组流-热耦合快速计算
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作者 刘云鹏 高艺倩 +4 位作者 刘刚 胡万君 王文浩 王博闻 高成龙 《中国电机工程学报》 EI CSCD 北大核心 2024年第7期2897-2909,I0032,共14页
该文针对采用传统数值方法进行大型油浸变压器绕组温升仿真时间较长的问题,提出一种基于U-net神经网络训练的快速计算方法,可以迅速地预测变压器绕组温升及热点。首先,根据流热耦合原理筛选输入变量,并运用流热耦合方法计算不同工况下... 该文针对采用传统数值方法进行大型油浸变压器绕组温升仿真时间较长的问题,提出一种基于U-net神经网络训练的快速计算方法,可以迅速地预测变压器绕组温升及热点。首先,根据流热耦合原理筛选输入变量,并运用流热耦合方法计算不同工况下的输出结果,并将之制作成训练集和测试集。同时,详细讨论3个对网络训练影响最显著的超参数;其次,将归一化后的训练集输入U-net神经网络进行训练,并设置超参数最佳组合;最后,将预测集输入训练好的模型进行预测计算及反归一化操作,预测绕组热点与Fluent仿真结果相差仅0.44 K,单次仿真时间从200 s缩短为0.07 s。预测结果与实验温度平均误差最大为2.31 K,最小为0.98 K,预测方差为0.31左右。结果表明:该方法可用于快速获得油浸式变压器绕组的温度及热点,可满足变压器温度热点数字孪生的实时性仿真要求。 展开更多
关键词 u-net神经网络 流热耦合 绕组温升 快速计算 数字孪生
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