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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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PCR-HRM for Genomic Surveillance of SARS-CoV-2: A Variant Detection Tool in Côte d’Ivoire, West Africa
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作者 Aboubacar Sylla Solange Kakou-Ngazoa +6 位作者 Tata Gniré Safiatou Coulibaly Yakoura Karidja Ouattara Mireille Sylvie Kouamé-Sina Zeinab Ouattara David Ngolo Coulibaly Brice Kouakou Bla Mireille Dosso 《American Journal of Molecular Biology》 CAS 2024年第3期166-185,共20页
The rise of new viruses, like SARS-CoV-2 causing the COVID-19 outbreak, along with the return of antibiotic resistance in harmful bacteria, demands a swift and efficient reaction to safeguard the health and welfare of... The rise of new viruses, like SARS-CoV-2 causing the COVID-19 outbreak, along with the return of antibiotic resistance in harmful bacteria, demands a swift and efficient reaction to safeguard the health and welfare of the global population. It is crucial to have effective measures for prevention, intervention, and monitoring in place to address these evolving and recurring risks, ensuring public health and international security. In countries with limited resources, utilizing recombinant mutation plasmid technology in conjunction with PCR-HRM could help differentiate the existence of novel variants. cDNA synthesis was carried out on 8 nasopharyngeal samples following viral RNA extraction. The P1 segment of the SARS-CoV-2 Spike S protein was amplified via conventional PCR. Subsequently, PCR products were ligated with the pGEM-T Easy vector to generate eight recombinant SARS-CoV-2 plasmids. Clones containing mutations were sequenced using Sanger sequencing and analyzed through PCR-HRM. The P1 segment of the S gene from SARS-CoV-2 was successfully amplified, resulting in 8 recombinant plasmids generated from the 231 bp fragment. PCR-HRM analysis of these recombinant plasmids differentiated three variations within the SARS-CoV-2 plasmid population, each displaying distinct melting temperatures. Sanger sequencing identified mutations A112C, G113T, A114G, G214T, and G216C on the P1 segment, validating the PCR-HRM findings of the variations. These mutations led to the detection of L452R or L452M and F486V protein mutations within the protein sequence of the Omicron variant of SARS-CoV-2. In summary, PCR-HRM is a vital and affordable tool for distinguishing SARS-CoV-2 variants utilizing recombinant plasmids as controls. 展开更多
关键词 Genomic Surveillance SaRS-CoV-2 PCR-HRM variants Côte d’Ivoire
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Effect of Co on Solidification Characteristics and Microstructural Transformation of Non-equilibrium Solidified Cu-Ni Alloys
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作者 安红恩 Bih-Lii Chua +1 位作者 Ismail Saad Willey Yun Hsien Liew 《Journal of Wuhan University of Technology(Materials Science)》 SCIE EI CAS CSCD 2024年第2期444-453,共10页
Non-equilibrium solidification structures of Cu55Ni45 and Cu55Ni43Co2 alloys were prepared by the molten glass purification cycle superheating method.The variation of the recalescence phenomenon with the degree of und... Non-equilibrium solidification structures of Cu55Ni45 and Cu55Ni43Co2 alloys were prepared by the molten glass purification cycle superheating method.The variation of the recalescence phenomenon with the degree of undercooling in the rapid solidification process was investigated using an infrared thermometer.The addition of the Co element affected the evolution of the recalescence phenomenon in Cu-Ni alloys.The images of the solid-liquid interface migration during the rapid solidification of supercooled melts were captured by using a high-speed camera.The solidification rate of Cu-Ni alloys,with the addition of Co elements,was explored.Finally,the grain refinement structure with low supercooling was characterised using electron backscatter diffraction(EBSD).The effect of Co on the microstructural evolution during nonequilibrium solidification of Cu-Ni alloys under conditions of small supercooling is investigated by comparing the microstructures of Cu55Ni45 and Cu55Ni43Co2 alloys.The experimental results show that the addition of a small amount of Co weakens the recalescence behaviour of the Cu55Ni45 alloy and significantly reduces the thermal strain in the rapid solidification phase.In the rapid solidification phase,the thermal strain is greatly reduced,and there is a significant increase in the characteristic undercooling degree.Furthermore,the addition of Co and the reduction of Cu not only result in a lower solidification rate of the alloy,but also contribute to the homogenisation of the grain size. 展开更多
关键词 non-equilibrium solidification recalescence effect solidification character microstructure
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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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Instance Segmentation of Characters Recognized in Palmyrene Aramaic Inscriptions
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作者 Adéla Hamplová Alexey Lyavdansky +3 位作者 TomášNovák Ondrej Svojše David Franc Arnošt Veselý 《Computer Modeling in Engineering & Sciences》 SCIE EI 2024年第9期2869-2889,共21页
This study presents a single-class and multi-class instance segmentation approach applied to ancient Palmyrene inscriptions,employing two state-of-the-art deep learning algorithms,namely YOLOv8 and Roboflow 3.0.The go... This study presents a single-class and multi-class instance segmentation approach applied to ancient Palmyrene inscriptions,employing two state-of-the-art deep learning algorithms,namely YOLOv8 and Roboflow 3.0.The goal is to contribute to the preservation and understanding of historical texts,showcasing the potential of modern deep learning methods in archaeological research.Our research culminates in several key findings and scientific contributions.We comprehensively compare the performance of YOLOv8 and Roboflow 3.0 in the context of Palmyrene character segmentation—this comparative analysis mainly focuses on the strengths and weaknesses of each algorithm in this context.We also created and annotated an extensive dataset of Palmyrene inscriptions,a crucial resource for further research in the field.The dataset serves for training and evaluating the segmentation models.We employ comparative evaluation metrics to quantitatively assess the segmentation results,ensuring the reliability and reproducibility of our findings and we present custom visualization tools for predicted segmentation masks.Our study advances the state of the art in semi-automatic reading of Palmyrene inscriptions and establishes a benchmark for future research.The availability of the Palmyrene dataset and the insights into algorithm performance contribute to the broader understanding of historical text analysis. 展开更多
关键词 Optical character recognition instance segmentation Palmyrene ancient languages computer vision
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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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RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review
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作者 Jin Li Yi-Qun Hu +4 位作者 Hong-Bo Cheng Ting Wang Long-Hao Kuang Tao Huang Xiao-He Yan 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第2期311-316,共6页
AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.MET... AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.METHODS:The patient underwent a complete ophthalmologic examination including best-corrected visual acuity,anterior segment and dilated fundus,visual field,spectral-domain optical coherence tomography(OCT)and electroretinogram(ERG).The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the result.Then we reviewed the characteristics of the patients reported with the same variant.RESULTS:A 30-year male presented with severe early retinal degeneration who complained night blindness,decreased visual acuity,vitreous floaters and amaurosis fugax.The best corrected vision was 0.04 OD and 0.12 OS,respectively.The fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left eye.Autofluorescence shows bilateral symmetrical hypo-autofluorescence.ERG revealed that the amplitudes of a-and b-wave were severely decreased.Multifocal ERG showed decreased amplitudes in the local macular area.A homozygous missense variant c.146C>T(chr14:68191267)was found.The clinical characteristics of a total of 13 patients reported with the same pathologic variant varied.CONCLUSION:An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are reported.The clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease. 展开更多
关键词 RDH12 gene inherited retinal degeneration homozygous pathogenic variant clinical feature multi-mode imaging
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Isolated Hyperacute T-Waves in West Nile Encephalitis Indicating Atypical Variant of Stress-Induced Cardiomyopathy
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作者 Soomal Rafique Nadeem Khan Momin Siddique 《Journal of Biosciences and Medicines》 2024年第2期303-310,共8页
Several cardiac outcomes have been reported with West Nile-encephalitis;however, the underlying pathophysiology remains complex. We present a 42-year-old female, with multiple sclerosis, whose neurological symptoms an... Several cardiac outcomes have been reported with West Nile-encephalitis;however, the underlying pathophysiology remains complex. We present a 42-year-old female, with multiple sclerosis, whose neurological symptoms and respiratory decline were finally explained by the diagnosis of West Nile-encephalitis. During her admission, the isolated peaked T-waves indicated the underlying stress-induced cardiomyopathy. The absence of all other causes of hyperacute T-waves, their subsequent resolution with the resolution of infection and improvement in wall motion abnormalities, further supported the association. This case highlights the importance of considering hyperacute T-waves in an approach towards the diagnosis of WNV-encephalitis related atypical variant of stress-induced cardiomyopathy. 展开更多
关键词 West Nile Virus encephalitis WNV Hyperacute T-Waves Takotsubo Cardiomyopathy atypical/Inverted variant of Stress-Induced Cardiomyopathy CMP
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Audio2AB:Audio-driven collaborative generation of virtual character animation
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作者 Lichao NIU Wenjun XIE +2 位作者 Dong WANG Zhongrui CAO Xiaoping LIU 《虚拟现实与智能硬件(中英文)》 EI 2024年第1期56-70,共15页
Background Considerable research has been conducted in the areas of audio-driven virtual character gestures and facial animation with some degree of success.However,few methods exist for generating full-body animation... Background Considerable research has been conducted in the areas of audio-driven virtual character gestures and facial animation with some degree of success.However,few methods exist for generating full-body animations,and the portability of virtual character gestures and facial animations has not received sufficient attention.Methods Therefore,we propose a deep-learning-based audio-to-animation-and-blendshape(Audio2AB)network that generates gesture animations and ARK it's 52 facial expression parameter blendshape weights based on audio,audio-corresponding text,emotion labels,and semantic relevance labels to generate parametric data for full-body animations.This parameterization method can be used to drive full-body animations of virtual characters and improve their portability.In the experiment,we first downsampled the gesture and facial data to achieve the same temporal resolution for the input,output,and facial data.The Audio2AB network then encoded the audio,audio-corresponding text,emotion labels,and semantic relevance labels,and then fused the text,emotion labels,and semantic relevance labels into the audio to obtain better audio features.Finally,we established links between the body,gestures,and facial decoders and generated the corresponding animation sequences through our proposed GAN-GF loss function.Results By using audio,audio-corresponding text,and emotional and semantic relevance labels as input,the trained Audio2AB network could generate gesture animation data containing blendshape weights.Therefore,different 3D virtual character animations could be created through parameterization.Conclusions The experimental results showed that the proposed method could generate significant gestures and facial animations. 展开更多
关键词 audio-driven Virtual character Full-body animation audio2aB Blendshape GaN-GF
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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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Left lower lobe sleeve resection for the clear cell variant of pulmonary mucoepidermoid carcinoma:A case report
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作者 Xiao-Hui Yu Wen-Xiang Wang +1 位作者 De-Song Yang Liang-Hui Gong 《World Journal of Clinical Cases》 SCIE 2024年第8期1422-1429,共8页
BACKGROUND Pulmonary mucoepidermoid carcinoma(PMEC)is a rare malignancy that arises from minor salivary glands within the tracheobronchial tree.The clear cell variant of PMEC is exceptionally uncommon and presents not... BACKGROUND Pulmonary mucoepidermoid carcinoma(PMEC)is a rare malignancy that arises from minor salivary glands within the tracheobronchial tree.The clear cell variant of PMEC is exceptionally uncommon and presents notable diagnostic challenges,primarily attributable to its morphological similarity to other tumors containing clear cells.CASE SUMMARY A 22-year-old male,formerly in good health,came in with a two-month duration of persistent cough and production of sputum.Subsequent imaging and bronchoscopy examinations revealed a 2 cm tumor in the distal left main bronchus,which resulted in complete atelectasis of the left lung.Further assessment via positron emission tomography/computed tomography scans and endoscopic biopsy confirmed the primary malignant nature of the tumor,charac-terized by clear cell morphology in most of the tumor cells.The patient underwent a left lower lobe sleeve resection accompanied by systematic mediastinal lymph node dissection.Molecular pathology analysis subsequently revealed a CRTC3-MAML2 gene fusion,leading to a definitive pathological diagnosis of the clear cell variant of PMEC,staged as T2N0M0.After surgery,the patient experienced a smooth recovery and exhibited no signs of recurrence during the one-and-a-half-year follow-up period.CONCLUSION This article describes an unusual case of a clear cell variant of PMEC characterized by the presence of a CRTC3-MAML2 gene fusion in a 22-year-old male.The patient underwent successful left lower lobe sleeve resection.This case underscores the distinctive challenges associated with diagnosing and treating this uncommon malignancy,underscoring the importance of precise diagnosis and personalized treatment strategies. 展开更多
关键词 Pulmonary mucoepidermoid carcinoma Clear cell variant CRTC3-MaML2 gene fusion Sleeve lobectomy Case report
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Frontier Progress of Landscape Character Assessment in China
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作者 LI Sha XIE Wanyu +2 位作者 HUANG Tingting YANG Xin ZHU Jianning 《Journal of Landscape Research》 2024年第1期1-6,共6页
The role of Landscape Character Assessment(LCA)at the level of territorial landscape governance spans both natural and social sciences.By analyzing the development history,research distribution,methods and application... The role of Landscape Character Assessment(LCA)at the level of territorial landscape governance spans both natural and social sciences.By analyzing the development history,research distribution,methods and applications of cutting-edge cases of LCA in China,the following conclusions are drawn:①the LCA research in China originated earlier than that in Europe,but has not yet been systematically applied to the implementation of urban and rural planning at all levels;②the fundamental theory of LCA in China has been well constructed,with three main research directions:technologyled,assessment-led,and assessment combined with other theories;③the development of LCA in rural areas is more mature than in urban areas,but the progress of research is uneven across regions;④the current research presents significant“bottom-up”academic characteristics,and there is an urgent need for government decision-making authorities and academia to jointly promote a“top-down”standardized governance mechanism to comprehensively promote the modernization of territorial landscape governance. 展开更多
关键词 Landscape character assessment Territorial landscape Spatial planning Standardized mechanism Landscape governance modernization
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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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On Nonce Variant of English Idioms
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作者 LI Yunxia MENG Fanyan 《Sino-US English Teaching》 2024年第6期291-295,共5页
English idiom variant refers to the form of idiom created by means of altering some original components,structures,or meanings of the former idioms.The nonce variant of English idioms can be analyzed from the followin... English idiom variant refers to the form of idiom created by means of altering some original components,structures,or meanings of the former idioms.The nonce variant of English idioms can be analyzed from the following three aspects:reasons for formation of nonce variant,types into which it could be divided,and rhetorical functions it is capable of producing.Through the analysis of these three aspects,it is almost likely for language-users to realize the importance and modes of idiom’s renovation,get a better understanding of English idioms,and thus utilize English idioms more skillfully. 展开更多
关键词 English idiom nonce variant form and meaning modes of renovation
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Progress in the evaluation tool of Character Strengths and its application in nursing staff
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作者 Ming-Hui Ning Gui-Hong Yan 《Nursing Communications》 2024年第16期1-6,共6页
Character Strengths is a group of positive personality traits reflected through cognition,behavior,and emotion,which play a positive role in improving happiness,alleviating negative emotions,and maintaining physical a... Character Strengths is a group of positive personality traits reflected through cognition,behavior,and emotion,which play a positive role in improving happiness,alleviating negative emotions,and maintaining physical and mental health.This article reviews the concept,content,methods,evaluation tools,and application progress of Character Strengths in nurses,so as to provide a reference for clinical managers and improve the quality of life,mental health,and professional satisfaction of n urses. 展开更多
关键词 character strengths nurses REVIEW
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Comparison of Some Characteristics Between Phragmites communis and Its Salt Tolerant Variant 被引量:8
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作者 许祥明 叶和春 +1 位作者 李国凤 陈建林 《Acta Botanica Sinica》 CSCD 2000年第11期1126-1130,共5页
R5002_12, a salt tolerant line of Phragmites communis Trin., which was obtained from ethyl methane sulfonate (EMS) treated callus selected under saline stress, was compared with its wild line in respect to their m... R5002_12, a salt tolerant line of Phragmites communis Trin., which was obtained from ethyl methane sulfonate (EMS) treated callus selected under saline stress, was compared with its wild line in respect to their molecular biological, physiological and biochemical characterizations. Five arbitrary primers were screened which showed differences in DNA amplified polymorphism between the variant and its wild line. Some new proteins appeared in the salt tolerant plant under salt stress. Electrophoresis of peroxidase and esterase also showed some differences in isozyme expression between them. The chlorophyll content of the variant was higher than that of the original variety, whether the plants were under salt stress or not. 展开更多
关键词 Phragmites communis salt tolerant variant RaPD ISOZYME CHLOROPHYLL soluble protein
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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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