Variation

Variation
  • 文章类型: Journal Article
    这项研究旨在通过杂交来丰富天花基因库,并评估来自5种天花物种的56种基因型之间的遗传变异。使用了十七个形态描述符,使用NTSYS-PC软件来定义遗传关系,UPGMA生成的树状图反映了这些关系。此外,进行主成分分析(PCA)以确定哪个参数更有效地解释变异.结果显示遗传相似率差异很大,最相似的基因型是P.zonale\'c1\'和P.zonale\'c1\'xP.zonale\'c2\'的杂种(90%的相似性)。根据树状图的结果,观察到基因型分布在六个集群中。相比之下,最遥远的基因型是P.zonale\'c11\'和P.zonale\'c10\'xP.zonale\'c11\'的杂种(相似性为0.04%)。来自雌性亲本P.xhortorum\'c1\'的杂种在树状图中表现出独特的位置。在这种基因型的杂交组合中,根据花的类型获得的个体,花的颜色,花的大小,芽的大小,早期开花,叶片大小性状表现出与亲本不同的特征。令人惊讶的结果在花的类型,颜色,形状有助于基因库的富集,有望增加育种变异的成功。该研究对商业育种具有实际意义,并为未来的研究工作提供了宝贵的指导。
    This study aimed to enrich the Pelargonium gene pool through crosses and assess genetic variation among 56 genotypes from five Pelargonium species. Seventeen morphological descriptors were used, and NTSYS-pc software was employed to define genetic relationships, and a UPGMA-generated dendrogram reflected these relationships. Moreover, principal component analysis (PCA) was performed to determine which parameter was more effective in explaining variation. Results showed wide variation in genetic similarity rates, with the most similar genotypes being P. zonale \'c1\' and a hybrid of P. zonale \'c1\' x P. zonale \'c2\' (90% similarity). According to the dendrogram results, it was observed that the genotypes were distributed in six clusters. In contrast, the most distant genotypes were P. zonale \'c11\' and a hybrid of P. zonale \'c10\' x P. zonale \'c11\' (0.04% similarity). Hybrids from the female parent P. x hortorum \'c1\' exhibited unique placement in the dendrogram. In the crossing combinations with this genotype, the individuals obtained in terms of flower type, flower color, flower size, bud size, early flowering, and leaf size characters showed different characteristics from the parents. Surprising outcomes in flower types, colors, and shapes contributed to gene pool enrichment, promising increased breeding variation success. The study holds practical implications for commercial breeding and serves as a valuable guide for future research endeavors.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    了解根管孔的解剖结构和形态以及变异是影响治疗结果的重要因素。
    这项研究的目的是评估根管孔数量及其在乳牙中的变化,由肉眼和放大镜识别。
    共有173颗乳牙计划在18个月内进行牙髓切除术。两名检查者评估了根管孔的数量和模式。进入腔体准备后,操作者用肉眼记录根管孔的数量,考官用放大镜(3.5×)记录。清洁和整形后,使用相同的方案.收集的数据使用SPSS版本23.0进行统计分析,并使用配对t检验进行比较。
    进入腔准备后,肉眼和放大镜(3.005±0.971)之间根管孔识别的总体差异具有统计学意义(P≤0.05)。
    放大放大镜显着增强了对乳牙根管孔数量和模式的确定。因此,放大镜的应用对于准确评估原牙列根管孔的变化至关重要。
    UNASSIGNED: Knowledge of the anatomy and morphology of root canal orifices and variations are vital elements affecting treatment outcomes.
    UNASSIGNED: The objective of this study was to evaluate variations in the number of root canal orifices and their patterns in primary teeth, as identified by both the naked eye and under magnifying loupes.
    UNASSIGNED: Total of 173 primary teeth was scheduled for pulpectomy over a period of 18 months. Two examiners assessed the number and pattern of the root canal orifices. After access cavity preparation, the operator recorded the number of root canal orifices with naked eye, and examiner recorded the same using magnifying loupes (3.5×). After cleaning and shaping, the same protocol was used. Collected data were statistically analyzed using SPSS version 23.0 and compared using a paired t-test.
    UNASSIGNED: The overall variation in the in the identification of root canal orifices between the naked eye and magnifying loupes (3.005 ± 0.971) was statistically significant after access cavity preparation (P ≤ 0.05).
    UNASSIGNED: Magnifying loupes significantly enhances the determination of the number and pattern of root canal orifices in primary teeth. Therefore, the application of magnifying loupes is essential for accurately assessing variations in root canal orifices in primary dentition.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    背景/目标:为了评估超声实践的质量,专业组织推荐大规模审计和重点审计,但是这种审计可能很耗时,低效,而且昂贵。我们的目标是开发一种有时间效率的,定量,目标,评估整个实践中胎儿生物测量的大规模方法,结合对测量结果为异常值的人员进行集中图像审查的过程。方法:将全年的超声检查数据从商业超声报告软件导出到统计软件包。胎儿生物测定测量值被转换为z分数以在不同胎龄之间标准化。对于大规模审计,使用方差分析(ANOVA)与Scheffe多重比较检验比较超声医师平均z分数。对超声检查者的随机检查样本进行聚焦图像审查,其平均z分数与练习平均值有显着差异。进行了类似的大规模审计,比较医生的平均z分数。结果:以胎儿腹围测量为例,通过ANOVA和Scheffe检验很容易确定超声医师平均z评分之间的显着差异。描述了一种方法,用于对具有离群值平均z分数的超声检查者进行盲图像审核。还给出了识别和解释几种类型的系统误差的示例,这些误差不太可能通过图像审查来检测。包括具有大或小标准差的z分数和具有离群值平均z分数的医生。结论:大规模定量分析提供了实践中所有超声医师和医师的生物测量的概述,以便图像审计可以集中在那些测量值是异常值的人身上。该分析在初始开发后只需要很少的时间来执行,并且避免了时间,复杂性,和审计提供者的费用,其测量值在预期范围内。我们鼓励商业软件开发人员在其超声报告软件中包含工具,以促进此类定量审查。
    Background/Objectives: To evaluate the quality of an ultrasound practice, both large-scale and focused audits are recommended by professional organizations, but such audits can be time-consuming, inefficient, and expensive. Our objective was to develop a time-efficient, quantitative, objective, large-scale method to evaluate fetal biometry measurements for an entire practice, combined with a process for focused image review for personnel whose measurements are outliers. Methods: Ultrasound exam data for a full year are exported from commercial ultrasound reporting software to a statistical package. Fetal biometry measurements are converted to z-scores to standardize across gestational ages. For a large-scale audit, sonographer mean z-scores are compared using analysis of variance (ANOVA) with Scheffe multiple comparisons test. A focused image review is performed on a random sample of exams for sonographers whose mean z-scores differ significantly from the practice mean. A similar large-scale audit is performed, comparing physician mean z-scores. Results: Using fetal abdominal circumference measurements as an example, significant differences between sonographer mean z-scores are readily identified by the ANOVA and Scheffe test. A method is described for the blinded image audit of sonographers with outlier mean z-scores. Examples are also given for the identification and interpretation of several types of systematic errors that are unlikely to be detectable by image review, including z-scores with large or small standard deviations and physicians with outlier mean z-scores. Conclusions: The large-scale quantitative analysis provides an overview of the biometry measurements of all the sonographers and physicians in a practice, so that image audits can be focused on those whose measurements are outliers. The analysis takes little time to perform after initial development and avoids the time, complexity, and expense of auditing providers whose measurements fall within the expected range. We encourage commercial software developers to include tools in their ultrasound reporting software to facilitate such quantitative reviews.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    颈椎前路椎间盘切除术和融合术(ACDF)是一种常见的颈椎手术,在美国(U.S.)每年有超过137,000例。历史上,ACDF一直是一个相对安全的程序,尽管遇到了重要的解剖结构,可能有严重的并发症的风险。ACDF的一个特别危险的后遗症是撕裂椎动脉(VA)的风险。虽然VA损伤很少见(占病例的0.5%),对于外科医生来说,通过对VA解剖学的全面了解,预防这种可能致命的并发症是至关重要的.VA通常在横向工头内受到保护;但是,异常可能存在,在手术部位内发现的动脉可能比预期的更内侧或更近.本文的目的是报告在尸体标本中发现的异常,其中VA在ACDF板的2mm内行进。
    一名有冠心病病史的66岁男性因心肌梗死并发症去世。在尸体解剖期间,结果发现,供者之前曾经历过3级(C4-C7)ACDF手术,原因不明.在进一步审查中,观察到左VA在最终进入C5的横向孔之前采取异常的内侧追踪过程。在C5和C6水平上没有左前结节,在对侧的前结节/横孔上发现了明显的骨赘。
    没有发表关于VA变异体的解剖结构及其对ACDF程序的影响的研究。发现ACDF在13.2%的病例中有并发症发生率。在高达20%的美国人群中观察到VA变体,并且ACDF程序中的VA损伤具有接近0.5%的比率。随着解剖结构的变化导致更高的受伤风险,外科医生在手术前需要采取进一步的预防措施,包括订购计算机断层扫描血管造影或磁共振血管造影胶片。了解VA及其变体的详细解剖结构至关重要。利用骨科脊柱外科医生的观点,本研究补充了ACDF手术中潜在VA异常的相关文献.
    UNASSIGNED: Anterior cervical discectomy and fusion (ACDF) is a common cervical procedure with more than 137,000 cases in the United States (U.S.) each year. Historically, ACDF has been a relatively safe procedure despite encountering vital anatomical structures that can risk serious complications. One particularly dangerous sequela of ACDF is the risk of lacerating the vertebral artery (VA). While VA injuries are rare (0.5% of cases), it is crucial for surgeons to prevent this potentially deadly complication with thorough knowledge of VA anatomy. The VA is commonly protected within the transverse foreman; however, anomalies can exist with the artery potentially being found more medial or proximal within the surgical site than expected. The purpose of this article is to report an anomaly found in a cadaveric specimen, where the VA courses within 2 mm of an ACDF plate.
    UNASSIGNED: A 66-year-old male with a past medical history of coronary artery disease passed away due to complications of a myocardial infarction. During cadaveric dissection, it was discovered that the donor had undergone a previous 3-level (C4-C7) ACDF procedure for an unknown reason. Under further examination, the left VA was observed to take an anomalous medially tracking course before eventually entering the transverse foramina of C5. Left anterior tubercles were absent at the level of C5 and C6 with prominent osteophytes found on the anterior tubercles/transverse foramina of the contralateral side.
    UNASSIGNED: There are no studies published on the anatomy of VA variants and their implications on ACDF procedures. ACDF was found to have complication rates in 13.2% of cases. VA variants are observed in up to 20% of the U.S. population and VA injury in ACDF procedures has a rate near 0.5%. With anatomic variations leading to a higher risk of injury, surgeons are required to take further precautionary steps before operating including ordering computed tomography angiography or magnetic resonance angiography films. Understanding the detailed anatomy of the VA and its variants is critical. Using the perspectives of orthopedic spine surgeons, this study supplements the literature on potential VA anomalies encountered in ACDF procedures.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    尽管美国各医院对非ST段抬高型心肌梗死(NSTEMI)患者的管理存在差异,很少有数据描述特定管理策略后结果的变化。
    NSTEMI医院接受冠状动脉造影检查,经皮冠状动脉介入治疗(PCI),从国家住院患者样本中确定了2016年至2018年之间的冠状动脉旁路移植术(CABG)手术。根据所提供的治疗对患者进行分类(仅药物治疗,没有血管重建的血管造影,PCI或CABG)。主要终点是复合院内死亡发生率的差异,术后心肌梗死,或中风,按治疗分层。次要结果包括住院时间(LOS)的变化,成本,以及每种治疗方式的使用。变异的特征在于中位数比值比。
    在140,194例NSTEMI住院患者中,35,748名(25.5%)患者仅接受药物治疗,28,678(20.5%)接受了血管造影,但未进行血运重建,58,383(41.6%)行PCI,17,385(12.4%)行CABG。尽管根据患者和医院相关因素进行了调整,在随机选择的一家医院中,2名相似的患者在PCI后经历复合主要结局的可能性高25%,在CABG后经历复合主要结局的可能性高45%。在每种治疗方式之后,LOS和成本的医院级别差异也很明显。
    在对NSTEMI住院的大型国家分析中,在临床结果中观察到显著的变化,LOS,以及与每种治疗方式相关的成本,尽管对患者和医院相关因素进行了调整。
    UNASSIGNED: Although variation in the management of patients with non-ST-elevation myocardial infarction (NSTEMI) is well documented across US hospitals, few data exist characterizing variation in outcomes following specific management strategies.
    UNASSIGNED: Admissions for NSTEMI to hospitals performing coronary angiography, percutaneous coronary intervention (PCI), and coronary artery bypass graft (CABG) surgery between 2016 and 2018 were identified from the National Inpatient Sample. Patients were categorized according to treatment rendered (medical therapy alone, angiography without revascularization, PCI, or CABG). The primary end point was variation in the incidence of composite in-hospital death, postprocedure myocardial infarction, or stroke, stratified by treatment rendered. Secondary outcomes included variation in length of stay (LOS), cost, and use of each treatment modality. Variation was characterized by the median odds ratio.
    UNASSIGNED: Among 140,194 hospitalizations for NSTEMI, 35,748 (25.5%) patients received medical therapy alone, 28,678 (20.5%) underwent angiography without revascularization, 58,383 (41.6%) underwent PCI, and 17,385 (12.4%) underwent CABG. Despite adjusting for patient- and hospital-related factors, 2 similar patients were 25% more likely to experience the composite primary outcome following PCI and 45% more likely following CABG at 1 randomly selected hospital than at another. Significant hospital-level variations in LOS and cost were also apparent following each treatment modality.
    UNASSIGNED: In a large national analysis of hospitalizations for NSTEMI, significant variation was observed in clinical outcome, LOS, and cost associated with each treatment modality, despite adjustment for patient- and hospital-related factors.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    α-角蛋白是羊毛纤维皮层中的结构蛋白,并以有组织的方式组装成角蛋白中间丝。这些角蛋白的变化会影响羊毛纤维的结构和特性,使角蛋白基因成为开发描述羊毛性状变异的基因标记的理想候选者。研究了KRT85的跨越外显子3-4的区域(包括整个外显子3、内含子3、外显子4和部分内含子4)。在该区域中观察到定义两个变体序列(A和B)的两个条带模式。这些特征是存在两个单核苷酸多态性。在463只Merino×Southdown杂交羔羊中研究了KRT85外显子3-4区域的这种变异对羊毛性状的影响。这两种变异在这些绵羊中的频率分别为55.6%和44.4%,分别。观察到三种不同的基因型,频率为32.6%,AA的46.1%和21.3%,AB和BB,分别。A的存在与油腻羊毛重量和干净羊毛重量的增加有关,而B的存在与羊毛刺因子的增加有关。这些发现应在更广泛的绵羊品种中复制,以确定这种关联是否牢固,并阐明观察到的影响是归因于品种差异还是基因效应本身。
    α-keratins are structural proteins in the cortex of wool fibres and assemble in an organized fashion into keratin intermediate filaments. Variation in these keratin proteins affects the structure and characteristics of wool fibre, making keratin genes ideal candidates for the development of gene markers that describe variations in wool traits. A region of KRT85 spanning exon 3-4 (including the entire exon 3, intron 3, exon 4 and part of intron 4) was investigated. Two banding patterns defining two variant sequences (A and B) were observed in this region, and these were characterised by the presence of two single nucleotide polymorphisms. The effect of this variation in the exon 3-4 region of KRT85 on wool traits was investigated in 463 Merino × Southdown-cross lambs. The frequencies of these two variants in these sheep were 55.6% and 44.4%, respectively. Three different genotypes were observed with frequencies of 32.6%, 46.1% and 21.3% for AA, AB and BB, respectively. The presence of A was associated with an increase in greasy fleece weight and clean fleece weight, while the presence of B was associated with an increased wool prickle factor. These findings should be replicated in a broader range of sheep breeds to determine whether the associations are robust and to clarify whether the observed effects are attributable to breed differences or to gene effects themselves.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    众所周知,绵羊的羊毛具有独特的生物学特性,物理和化学性质。纤维主要由蛋白质组成,但是这些有氨基酸序列变异,在表型水平上,羊毛纤维变化很大。这会影响其效用和价值。如果我们要考虑提高羊毛质量,那么解开支撑蛋白质和表型变异性的遗传因素至关重要。因此,这项研究调查了绵羊体内高甘氨酸和酪氨酸含量的角蛋白相关蛋白19-5基因(KRTAP19-5)。PCR-单链确证多态性分析,结合跨越整个编码序列的区域的DNA测序,揭示了包含七个单核苷酸多态性(SNP)的六个序列变体。五个SNP位于编码区内,四个导致氨基酸变化,如果表达。在247只来自10个父系的中国谭羊中,并以其独特的“春天般的”卷曲羊毛而闻名,在出生后大约35天,发现其中一种变体与羊毛中细羊毛纤维的曲率降低有关。未检测到与其他纤维性状或Tan羊异型毛纤维的变异有关。虽然这些发现可能有助于开发基因标记以改变平均羊毛纤维曲率并改善绵羊繁殖,已知许多其他基因和环境因素会导致纤维性状的变异。
    Sheep\'s wool is known to have unique biological, physical and chemical properties. The fibre primarily consists of proteins, but these have amino acid sequence variation, and at the phenotypic level wool fibre varies considerably. This can affect its utility and value. Unravelling the genetic factors that underpin the protein and phenotypic variability is crucial if we are to contemplate improving wool quality. Accordingly, this study investigates the high glycine and tyrosine content keratin-associated protein 19-5 gene (KRTAP19-5) in sheep. PCR-single strand confirmation polymorphism analysis, coupled with DNA sequencing of a region spanning whole coding sequence, revealed six sequence variants containing seven single nucleotide polymorphisms (SNPs). Five of the SNPs were located within the coding region, with four leading to amino acid changes if expressed. In 247 Chinese Tan sheep derived from 10 sire-lines, and renowned for their distinct \'spring-like\' crimped wool at up to approximately 35 days after birth, one of the variants was found to be associated with decreased curvature of the fine wool fibres in the fleece. No associations were detected with other fibre traits or with variation in the heterotypic hair fibres of the Tan sheep. While these findings may be useful for developing gene markers to alter mean wool fibre curvature and improve sheep breeding, many other genes and environmental factors are known to contribute to variation in fibre traits.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    三峡水库的正常运行,包括定期储存和排放水,导致环境条件的强烈干扰,改变了河岸带的土壤微生物栖息地。河岸带是三峡库区污染治理的重要组成部分,因为它们是拦截污染物的最终生态屏障。同时,河岸带微生物群落的健康监测对于维护库区的生态安全至关重要。我们特别调查了大宁河,三峡水库的支流,具有典型的河岸带。这些地区的土壤样本进行了16SrRNA基因和18SrRNA基因的高通量测序,为了获得河岸带强烈干扰下当前微生物群落的特征。我们研究了微生物群落的特征和分布模式及其与土壤理化性质的关系。研究结果表明,微生物群落表现出高度的多样性和均匀性,并且存在空间异质性。ASV数据集包含许多未分配给已知属的序列,表明在河岸带存在新的真菌属。冗余分析(RDA)表明,pH和NH4-N是驱动河岸带细菌群落变化的主要环境因素,而pH值,总碳(TC)含量,NO3--N是土壤古细菌群落变异的主要驱动因素。
    The normal operation of the Three Gorges Reservoir, which involves periodic water storage and discharge, has led to strong disturbances in environmental conditions that alter soil microbial habitats in the riparian zones. Riparian zones are an important part of controlling pollution in the Three Gorges Reservoir area, since they act as a final ecological barrier that intercepts pollutants. Meanwhile, monitoring the health of microbial communities in the riparian zone is crucial for maintaining the ecological security of the reservoir area. We specifically investigate the Daning River, which are tributaries of the Three Gorges Reservoir and have typical riparian zones. Soil samples from these areas were subjected to high-throughput sequencing of 16S rRNA genes and 18S rRNA genes, in order to obtain the characteristics of the present microbial communities under strong disturbances in the riparian zones. We studied the characteristics and distribution patterns of microbial communities and their relationship with soil physicochemical properties. The study results indicate that microbial communities exhibit high diversity and evenness, and spatial heterogeneity is present. The ASV dataset contains many sequences not assigned to known genera, suggesting the presence of new fungal genera in the riparian zone. Redundancy analysis (RDA) revealed that pH and NH 4 + -N were the primary environmental factors driving bacterial community variation in the riparian zone, while pH, total carbon (TC) content, and NO 3 - -N were identified as the main drivers of soil archaeal community variation.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    Joubert综合征是一种罕见的遗传性疾病,其特征是中枢神经系统发育异常,大脑磁共振成像显示“磨牙征”,并伴有小脑疣发育不全,共济失调,低张力,和发育迟缓。圆锥角膜(KC)是一种遗传易感的眼病,其特征是中心或中心旁角膜锥形向前投射的扩张变薄,高度不规则散光,和严重的视力障碍。Klinefelter综合征是由男性患者的细胞中多余的X染色体引起的,主要表型为高个子和发育不良,具有第二性征。本研究旨在确定一个具有圆锥角膜和多器官受累的特定临床表现的汉族家庭的遗传病因并确定其临床诊断。
    对一名患者及其无症状的父母和兄弟进行了全面的眼部和相关的一般检查。通过外显子组测序测试致病基因。CNV-seq用于验证拷贝数变异,培养外周血进行核型分析。根据ACMG指南确定所鉴定的变体的致病性。获得NCBI数据库中圆锥角膜相关基因的基因表达综合(GEO)数据集,分析圆锥角膜组和正常对照组角膜组织中的差异表达基因,并进行了蛋白质-蛋白质相互作用网络(PPI)的分析。
    Proband,一个25岁的男性,左眼视力突然丧失1周。最佳矫正视力(BCVA):右眼0.5(-1.00DS/-5.00DC*29°),计算手指/40厘米的左眼。右眼裂隙灯显微镜检查显示角膜轻度前突,锥顶角膜变薄。左眼显示角膜中央区域明显变薄,呈锥状凸起的圆形水肿,上皮性大疱,基质的水肿和浑浊,和Descemet膜的膨胀。颅磁共振成像(MRI)显示中脑和小脑的变化,带有“磨牙符号”和“蝙蝠翅”脑室。一般检查:身高168厘米,四肢肌肉张力下降,引起膝跳,Babinski阴性体征,引起腹反射,手指到鼻子测试呈阳性,双手都有明显的故意震颤,肯定Romberg\'ssign,步态不稳定,一级智力残疾,不良的适应性行为,沟通障碍,牙齿所有的假牙,一个特殊的脸有眼睑萎缩,宽的内眼角距离,轻度下垂,严重的内胎膜阳性,高腭弓,外斜视,胡须和面部的毛发减退,不显眼的突出喉部,和短的上肢和下肢。外显子组测序检测到复合杂合移码变体M1:c.9279dup:p。His3094Thrfs*18和M2:c.6515_6522del:p。Lys2172Thrfs*37在患者的CPLANE1基因和X染色体上存在复制型CNV。Sanger测序显示,母亲和父亲携带M1和M2变体,分别,弟弟带着M2变体,这是一个新颖的变体。CNV-seq分析表明,在先证者的X染色体上存在约155Mb的复制型CNVXp22.33-Xq28(2757837-156030895),这是一个从头变种,父母都没有携带。根据ACMG指南,两种杂合移码变体和重复型CNV具有致病性。圆锥角膜相关基因的差异表达分析表明,与正常对照相比,圆锥角膜患者角膜组织中CPLANE1表达上调,差异有统计学意义(p=0.000515,<0.05)。PPI分析表明,CPLANE1-NPHP3复合蛋白充当纤毛和细胞外基质组织之间的桥梁。根据基因检测结果和临床表型分析,该家庭最终被诊断为Joubert综合征合并圆锥角膜和Klinefelter综合征.
    在这项研究中,我们报告了一个先证者,在一个汉族家庭中,患有Joubert综合征和X连锁Klinefelter综合征以及圆锥角膜,CPLANE1-Joubert综合征的表型谱可能会相应扩展。同时,外显子组测序的重要性在帮助复杂病例的临床诊断中得到了强调,这很难做到。
    UNASSIGNED: Joubert syndrome a rare genetic disorder, is characterized by abnormalities in the development of the central nervous system with \"molar signs\" on magnetic resonance imaging of the brain and accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. Keratoconus (KC) is a kind of genetically predisposed eye disease that causes blindness characterized by a dilated thinning of the central or paracentral cornea conically projected forward, highly irregular astigmatism, and severe visual impairment. Klinefelter syndrome is caused by an extra X chromosome in the cells of male patients, and the main phenotype is tall stature and dysplasia with secondary sex characteristics. This study was intended to identify the genetic etiology and determine the clinical diagnosis of one Han Chinese family with specific clinical manifestations of keratoconus and multiorgan involvement.
    UNASSIGNED: A comprehensive ocular and related general examination was performed on one patient and his asymptomatic parents and brother. Pathogenic genes were tested by exome sequencing. CNV-seq was used to verify the copy number variation, and peripheral blood was cultured for karyotype analysis. The pathogenicity of the identified variant was determined subject to ACMG guidelines. The Gene Expression Omnibus (GEO) dataset of keratoconus-related genes in the NCBI database was obtained to analyze the differentially expressed genes in corneal tissues of the keratoconus group and the normal control group, and analysis of protein-protein interaction networks (PPI) was performed.
    UNASSIGNED: Proband, a 25-year-old male, had sudden loss of vision in the left eye for 1 week. Best corrected visual acuity (BCVA): 0.5 (-1.00DS/-5.00DC*29°) in the right eye, counting fingers/40 cm in the left eye. Slit-lamp microscopy of the right eye showed mild anterior protrusion of the cornea and thinning of the cone-topped cornea. The left eye showed marked thinning of the central region of the cornea, rounded edema in the form of a cone-like bulge, epithelial bullae, edema and turbidity of the stroma, and bulging of the Descemet\'s membrane. Cranial magnetic resonance imaging (MRI) revealed changes in the midbrain and cerebellum, with a \"molar sign\" and a \"bat-winged\" ventriculus quartus cerebri. General check-up: 168 cm in height, decreased muscle tone in all four limbs, knee jerk elicited, negative Babinski sign, abdominal reflexes elicited, finger-to-nose test positive, intentional tremor evident in both hands, positive Romberg\'s sign, instability of gait, level I intellectual disability, poor adaptive behavior, communication disorders, teeth all dentures, a peculiar face with blepharophimosis, wide inner canthus distance, mild ptosis, severe positive epicanthus, high palatal arches, exotropia, hypotrichosis of beard and face, inconspicuous prominentia laryngea, and short upper and lower limbs. Exome sequencing detected compound heterozygous frameshift variants M1:c.9279dup:p.His3094Thrfs*18 and M2:c.6515_6522del:p.Lys2172Thrfs*37 in the patient\'s CPLANE1 gene and the presence of duplication-type CNV on the X chromosome. Sanger sequencing showed that the mother and father carried the M1 and M2 variants, respectively, and the younger brother carried the M2 variant, which was a novel variant. CNV-seq analysis showed the presence of a duplication-type CNV Xp22.33-Xq28 (2757837-156030895) of approximately 155 Mb on the X chromosome of the proband, which was a de novo variant and carried by neither of the parents. The two heterozygous frameshift variants and duplication-type CNV were pathogenic according to the ACMG guidelines. Differential expression analysis of keratoconus-related genes showed that CPLANE1 was upregulated in the corneal tissues of keratoconus patients compared with normal controls, and such a difference was statistically significant (p = 0.000515, <0.05). PPI analysis showed that the CPLANE1-NPHP3 complex protein acted as a bridge between cilia and extracellular matrix tissue. According to the genetic test results and clinical phenotype analysis, the family was finally diagnosed with Joubert syndrome combined with Keratoconus and Klinefelter syndrome.
    UNASSIGNED: In this study, we report a proband in a Han Chinese family with both Joubert syndrome and X-linked Klinefelter syndrome as well as keratoconus, and the phenotype spectrum of CPLANE1-Joubert syndrome may be expanded accordingly. Meanwhile, the significance of exome sequencing was emphasized in aiding the clinical diagnosis of complex cases, which is difficult to make.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    激光石墨烯(LIG)是微电子应用的新兴材料,正在用于开发超级电容器,软执行器,摩擦发电机,和传感器。制造技术简单,然而,LIG质量的批次间差异在文献中没有很好的记载.在这项研究中,我们进行实验以表征LIG电极制造中的批次间变化,以应用于电化学传感。使用CO2激光系统在聚酰亚胺膜上合成了大量批次的36个LIG电极。使用测角法对LIG材料进行了表征,立体显微镜,开路电位计,和循环伏安法。疏水性和电化学筛选(循环伏安法)表明,当使用商业参考和对电极时,LIG电极的批次间变化小于5%。LIG的金属化导致峰值电流和比电容(阳极/阴极曲线之间的面积)的显著增加。然而,批次间的差异增加到大约30%。研究了两种不同的铂电沉积技术,包括恒电流和调频电沉积。研究表明,具有高比电容和峰值电流的金属化LIG电极的形成可能会以高批次可变性为代价。这种设计折衷在文献中没有讨论过,并且如果需要大规模使用的缩放传感器设计,则是重要的考虑因素。这项研究为LIG传感器的可扩展开发提供了有关LIG材料特性变化的重要见解。需要额外的研究来了解这种变异性的潜在机制,以便可以开发提高可重复性的策略来改善质量控制。本研究的数据集可通过开放访问存储库获得。
    Laser-inscribed graphene (LIG) is an emerging material for micro-electronic applications and is being used to develop supercapacitors, soft actuators, triboelectric generators, and sensors. The fabrication technique is simple, yet the batch-to-batch variation of LIG quality is not well documented in the literature. In this study, we conduct experiments to characterize batch-to-batch variation in the manufacturing of LIG electrodes for applications in electrochemical sensing. Numerous batches of 36 LIG electrodes were synthesized using a CO2 laser system on polyimide film. The LIG material was characterized using goniometry, stereomicroscopy, open circuit potentiometry, and cyclic voltammetry. Hydrophobicity and electrochemical screening (cyclic voltammetry) indicate that LIG electrode batch-to-batch variation is less than 5% when using a commercial reference and counter electrode. Metallization of LIG led to a significant increase in peak current and specific capacitance (area between anodic/cathodic curve). However, batch-to-batch variation increased to approximately 30%. Two different platinum electrodeposition techniques were studied, including galvanostatic and frequency-modulated electrodeposition. The study shows that formation of metallized LIG electrodes with high specific capacitance and peak current may come at the expense of high batch variability. This design tradeoff has not been discussed in the literature and is an important consideration if scaling sensor designs for mass use is desired. This study provides important insight into the variation of LIG material properties for scalable development of LIG sensors. Additional studies are needed to understand the underlying mechanism(s) of this variability so that strategies to improve the repeatability may be developed for improving quality control. The dataset from this study is available via an open access repository.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号