Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism:Two case reports

BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.

Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype:A case report

BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 years.Somatic mosaicisms are usually recognized in the parents only after a typically affected son is diagnosed with KBG syndrome.We describe for the first time the mosaicism of a novel variant in a child with a mild KBG phenotype.CASE SUMMARY Our patient presented at 24 mo of age with short stature,hand abnormalities,facial dysmorphism and mild developmental delay.Pituitary hypoplasia and central hypothyroidism were also detected.By next generation sequencing(NGS)analysis we found a novel deletion in the ANKRD11 gene(c.4880_4893del.),that can be classified as likely pathogenic for the syndrome,with the percentage of mutated allele of 36%.We considered this finding as causative of the mild and non-specific phenotype for KBG syndrome in our patient,as previously reported in adults.A heterozygous variant in HESX1 gene,classified as variant of uncertain significance,but suspected of causing pituitary hypoplasia and hormonal deficiency,was also found.The patient started levothyroxine and growth hormone treatment.CONCLUSION The increased use of NGS analysis may expand the phenotypic spectrum of KBG syndrome because it allows genetic diagnosis of somatic mosaicisms also in children.

Cytogenetic Mechanism for the Aneuploidy and Mosaicism Foundin Tetraploid Pacific Oyster Crassostrea gigas （Thunberg）

Chromosome constitution was investigated in adult tetraploid Pacific oyster produced by blocking the first polar body oftriploid eggs which were fertilized with haploid sperms. A high incidence of aneuploid and heteroploid mosaics were found amongthe offspring. Of 20 individuals identified, only 9 （45%） were eutetraploid which contained 40 chromosomes; 2 （10%） were ane-uploid （hypotetraploid）, which contained 39 and 38 chromosomes, respectively; and 9 （45%） were heteroploid mosaics. One mosaicwas consisted of cells containing 40 and 39 chromosomes, respectiovely （1：1 in cell number）, while the other 8 were consisted ofcells containing chromosomes varying between tetraploid and triploid. It was also interesting to note that 3 mosaics even containedsome diploid cells with 20 chromosomes. A certain number of cells of 2 tetraploids and 8 mosaics spread with 32-37 well-scatteredand some clumped chromosomes at metaphase. The percentage of aneuploid cells with chromosomes varying between triploid andtetraploid correlated significantly with that of heteroploid mosaics cells with clumping chromosomes （P〈0.05）. Our findings sug-gested that reversion existed in both tetraploid and triploid oyster and chromosome clumping may underline the chromosome elimi-nation in tetraploid oyster. It seems that the reversing cells, at least some of them, continuously eliminate their chromosomes until themost stable diploid state is established.

Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism:Two case reports

BACKGROUND Turner syndrome(TS)has a variety of different karyotypes,with a wide range of phenotypic features,but the specific karyotype may not always predict the phenotype.TS with Y chromosome mosaicism may have mixed gonadal dysgenesis,and the mosaicism is related to the potential for gonadoblastoma.CASE SUMMARY In this case report,we report two cases of TS with different karyotypes and gonadal dysgenesis.Patient 1 had obvious virilization,and was positive for the SRY gene,but her karyotype in peripheral blood lymphocytes was 45X.Patient 2 had a mosaic karyotype,45X/46X,dic(Y:Y)(p11.3:p11.2),and the proportion of Y-bearing cells was 50%in peripheral blood lymphocytes,but the patient had normal female external genitalia and streaky gonads,with no genital virilism.Different tissues in the same TS individual may exhibit different ratios of mosaicism.The gonadal determination and differentiation of mosaic TS are primarily dependent on the predominant cell line in the gonads.CONCLUSION In TS patients with virilization,it is necessary to test at least two to three tissues to search for cryptic Y material.

MOSAICISM CONFINED TO PLACENTA IN PREGNANCIES WITH ADVERSE OUTCOME

Chorionic villi and fetal tissues from 50 pathological human conceptions at gestational weeks 9-40 were cultured and cytogenetically analyzed to explore the existence of chromosomal mosaicism confined to the extraembryonic tissues and to clarify the relationship between confined placental mosaicism and adverse outcome of pregnancy. Chorionic villi and fetal tissues from 12 second trimester gestations terminated for social reasons served as a control group. In two pathological gestations, true mosaicism was found exclusively in chorionic cells and could not be confirmed in cells derived from the fetal tissues. One of these was severely growth retarded. Concordant results were obtained in all other cases.

Discrepancy between non-invasive prenatal testing result and fetal karyotype caused by rare confined placental mosaicism: A case report

BACKGROUND Confined placental mosaicism(CPM)is one of the major reasons for discrepancies between the results of non-invasive prenatal testing(NIPT)and fetal karyotype analysis.CASE SUMMARY We encountered a primiparous singleton pregnant woman with a rare CPM consisting of 47,XY,+21;47,XXY;and 46,XY,who obtained a false-positive result on NIPT with a high risk for trisomy 21.Copy-number variation sequencing on amniotic fluid cells,fetal tissue,and placental biopsies showed that the fetal karyotype was 47,XXY,while the placenta was a rare mosaic of 47,XY,+21;47,XXY;and 46,XY.CONCLUSION The patient had a rare CPM consisting of 47,XY,+21;47,XXY;and 46,XY,which caused a discrepancy between the result of NIPT and the actual fetal karyotype.It is important to remember that NIPT is a screening test,not a diagnostic test.Any positive result should be confirmed with invasive testing,and routine ultrasound examination is still necessary after a negative result.

Pigmentary mosaicism and specific forms of phylloid hypoand hypermelanosis

Pigmentary mosaicism is proposed to encompass all pigment anomalies caused by chromosomal mosaicism. The concept includes, not only pigment anomalies following the lines of Blaschko, but also pigmentary disorders with phylloid, checkerboard and patchy pigmentation without midline separation. The representative disorders are hypomelanosis of Ito(pigmentary mosaicism of hypopigmented or Ito type), linear and whorled nevoid hypermelanosis(pigmentary mosaicism of hyperpigmented type), pigmentary mosaicism of hypopigmented and hyperpigmented type, and phylloid hypo- and hypermelanosis. Pigmentary mosaicism is nowadays recognized as a pigmentary disorder caused by somatic chromosomal abnormalities disrupting or accelerating the function of pigmentary genes. Affected individuals with pigmentary mosaicism commonly have multiple congenital abnormalities, developmental delays and/or mental retardation. However, the complication is not a syndrome because functional loss or acquisition due to various chromosomal abnormalities induces pigment abnormalities and specific complications. Cytogenetic abnormalities, including polyploidy, aneuploidy, deletions, insertions and translocations, are associated with almost any chromosome and tissue-limited mosaicism for chromosome abnormalities. Cytogenetic find-ings in cases with the phylloid pattern demonstrate the obvious causal relationship between phylloid hypomelanosis and mosaic trisomy 13. The pattern of cutaneous mosaicism depends on the trajectory of migration and proliferation during embryogenesis. The chromosomal regions of hot breakpoints in pigmentary mosaicism may contain pigmentation-associated genes. The accumulation of relationships between cases and chromosomal analyses may provide the opportunity to identify and understand the pigmentation-associated genes because more than 800 phenotypic alleles are known in the mice models of pigmentary anomalies and not all color loci have been identified. Here, we summarize the clinical features of pigmentary mosaicism and specific forms of phylloid hypo- and hypermelanosis.

Genomic Mosaicism of the Brain:Origin,Impact,and Utility

Genomic mosaicism describes the phenomenon where some but not all cells within a tissue harbor unique genetic mutations.Traditionally,research focused on the impact of genomic mosaicism on clinical phenotype—motivated by its involvement in cancers and overgrowth syndromes.More recently,we increasingly shifted towards the plethora of neutral mosaic variants that can act as recorders of cellular lineage and environmental exposures.Here,we summarize the current state of the field of genomic mosaicism research with a special emphasis on our current understanding of this phenomenon in brain development and homeostasis.Although the field of genomic mosaicism has a rich history,technological advances in the last decade have changed our approaches and greatly improved our knowledge.We will provide current definitions and an overview of contemporary detection approaches for genomic mosaicism.Finally,we will discuss the impact and utility of genomic mosaicism.

主流媒体短视频传播中的国家形象建构研究——以中国网短视频节目《中国三分钟(China Mosaic)》为例

以中国网账号发布在境外社交媒体平台Facebook上的节目《中国三分钟(China Mosaic)》为例,使用Python工具软件抓取得到评论数据样本,能很好地分析海外受众对主题类型的关注偏向和态度取向。从整体上看,海外受众对我国国家形象呈现出积极认可的态度,主要表现为:高度肯定我国的经济实力和科教发展成果,赞许我大国外交所起到的作用和经济建设成就,向往中华优秀传统文化等。但由于意识形态、东西方认知的差异,在海外受众的评论中也存在一些杂音,需要我们理性对待、主动消弭。在对外传播中,要用海外受众乐于接受的话语表达方式、共通的符号,从大处着眼、小处入手讲述中国故事,掌握议题设置的主动权,传播好中国声音。

煤矿井下无人驾驶轨道电机车障碍物识别

针对现有煤矿井下无人驾驶轨道电机车因巷道环境恶劣导致障碍物识别精度低的问题,提出用于无人驾驶电机车障碍物精准实时检测的PDM-YOLO模型.基于YOLOv5,将模型C3模块中的传统卷积替换为部分卷积,构建C3_P特征提取模块,有效减少模型的浮点运算量(FLOPs)与计算延迟.采用改进后的解耦头,对传统YOLOv5的预测头进行解耦,提高模型的收敛速度及对障碍物的识别精度.优化Mosaic数据增强方法,丰富训练图像的特征信息,提高模型的普适性和鲁棒性.实验结果表明,PDM-YOLO模型在自制数据集上的平均检测精度(mAP)达到96.3%,平均检测速度达到109.2帧/s,PDM-YOLO模型在PASCAL VOC公共数据集上的检测精度高于现有主流的YOLO系列模型.

基于改进YOLOv5m的电动车骑行者头盔与车牌检测方法

电动车上路必须佩戴安全头盔已成为交管部门的强制性规定.为了能自动检测出电动车骑行者的头盔佩戴情况,提出一种基于改进的YOLOv5m模型的头盔与车牌检测方法,在检测出骑行者未佩戴头盔的同时还能检测出电动车车牌.模型使用自建电动车骑行者头盔与车牌检测数据集进行训练,用DIOU损失函数代替GIOU损失函数,DIOU_NMS代替加权NMS,增强模型对密集骑行场景的识别能力.在Backone部位与预测中小目标的Neck部位加入ECA注意力机制,使得模型对中小目标的识别率有所提高;用K-means算法对锚框尺寸重新进行聚类.最后,改进Mosaic数据增强方式.实验结果表明:改进的YOLOv5m电动车骑行者头盔与车牌检测模型的mAP为92.7%,较原YOLOv5m模型提高2.15个百分点,较YOLOv4-tiny、Faster RCNN模型分别提高5.7个百分点与6.9个百分点.改进后的YOLOv5m模型能有效提高对头盔与车牌的识别率.

MOSAiC现场观测期间海冰厚度季节变化模拟误差分析

北极气候研究多学科漂流观测计划(Multidisciplinary drifting Observatory for the Study of Arctic Climate, MOSAiC)于2019年10月至2020年9月开展,期间获得了变量完整的大气、海洋、海冰厚度及积雪厚度观测,为海冰模式的发展提供了新的契机。本研究利用两个完整观测时段(2019年11月1日至2020年5月7日、2020年6月26日至7月27日)的大气和海洋强迫场,驱动一维海冰柱模式ICEPACK,模拟了MOSAiC期间海冰厚度的季节演变,同海冰厚度观测进行了对比,并诊断分析了海冰厚度模拟误差的原因。结果表明,在冬春季节,模式可以再现海冰厚度增长过程,但由于模式在春季高估了积雪向海冰的转化及对海冰物质平衡的贡献,模拟的春季海冰厚度偏厚。在夏季期间,2种热力学方案及3种融池方案的组合都表明模式高估了海冰表层的消融过程,导致模拟结束阶段的海冰厚度偏薄。我们的研究表明,使用变量完整的MOSAiC大气和海洋强迫场可以诊断目前海冰模式中的问题,为海冰模式的改进奠定基础。

Twin pregnancy and partial hydatidiform mole following in vitro fertilization and embryos transfer： a novel case of placental mosaicism

Twin pregnancy with mosaic partial hydatidiform mole （PHM） and survival of two healthy fetuses following in vitro fertilization and embryos transfer （IVF-ET） is a rare situation and is considered a challenge for management. A 32-year-old Chinese woman conceived twin pregnancy following IVF-ET. At 22 weeks＇ gestation, an additional intrauterine echogenic mass with features of PHM were shown by successive ultrasound examinations. At 35 weeks＇ gestation, two live male infants and two placentas were delivered by caesarean section （CS）. Histologic examination of the abnormal placenta confirmed mosaic PHM. Genetic study showed the abnormal placental mosaicism （expressed in molar-69XXY and normal vili-46XY）, co-existing with a hypospadia new-born （46XY） in one amniotic sac. However, the other one was normal. Serial serum β-hCG levels showed a declining trend and serum β-human chorionic gonadotropin （hCG） were undetectable at 6 months after delivery. The case demonstrated that it is possible to prolonged gestation by PHM under close surveillance during the entire pregnancy.

Second pregnancy of trisomy 21 in a mother with mosaicism

In the case of a previous offspring with trisomy 21, recurrence risk for Down syndrome is about 1%. It may be due to chance, but the possibility of germline mosaicism for trisomy 21 in one of the parents has important implications for the recurrence. Here we report a young healthy mother, who has a second pregnancy of trisomy 21.

Development of a stable attenuated double-mutant of tobacco mosaic virus for cross-protection

Tobacco(Nicotiana tabacum)and tomato(Solanum lycopersicum)are two major economic crops in China.Tobacco mosaic virus(TMV;genus Tobamovirus)is the most prevalent virus infecting both crops.Currently,some widely cultivated tobacco and tomato cultivars are susceptible to TMV and there is no effective strategy to control this virus.Cross-protection can be a safe and environmentally friendly strategy to prevent viral diseases.However,stable attenuated TMV mutants are scarce.In this study,we found that the substitutions in the replicase p126,arginine at position 196(R^(196))with aspartic acid(D),glutamic acid at position 614(E^(614))with glycine(G),serine at position 643(S^(643))with phenylalanine(F),or D at position 730(D^(730))with S,significantly reduced the virulence and replication of TMV.However,only the mutation of S^(643) to F reduced the RNA silencing suppression activity of TMV p126.A double-mutant TMV-E614G-S643F induced no visible symptom and was genetically stable through six successive passages in tobacco plants.Furthermore,our results showed that TMV-E614G-S643F double-mutant could provide effective protection against the wild-type TMV infection in tobacco and tomato plants.This study reports a promising mild mutant for cross-protection to control TMV in tobacco and tomato plants.

A bacterial protein Rhp-PSP inhibits plant viral proliferation through endoribonuclease activity

Plant virus causes massive crop losses globally.However,there is currently no effective measure to control plant viral disease.Previously,we identify an antiviral protein Rhp-PSP,produced by the bacterial Rhodopseudomonas palustris strain JSC-3b.In this study,we discover that the antiviral activity of Rhp-PSP relies on its endoribonuclease activity.Converting the arginine(R)residue at position 129 onto alanine(A)abolishs its endoribonuclease activity on coat protein(CP)RNA of tobacco mosaic virus(TMV),consequentially,compromises the antiviral activity of Rhp-PSP.Further investigation demonstrates that,the mutant Rhp-PSP^(R129A)is unable to form the homotrimer as the wild type,indicating the importance of quaternary junction for the endoribonuclease activity.Overexpression of Rhp-PSP in Nicotiana benthamiana significantly enhances the resistance against TMV of seedlings,while expression of Rhp-PSP^(R129A)did not,confirming that endoribonuclease activity is responsible for the antiviral activity of Rhp-PSP.In addition,foliar spray of Rhp-PSP solution on tomato and pepper plants significantly reduces the disease index of viral diseases,indicating that Rhp-PSP shows potential to develop antiviral agent in practice.

CRISPR/CasRx-mediated resistance to Soybean mosaic virus in soybean

Soybean mosaic virus(SMV),an RNA virus,is the most common and destructive pathogenic virus in soybean fields.The newly developed CRISPR/Cas immune system has provided a novel strategy for improving plant resistance to viruses;hence,this study aimed to engineer SMV resistance in soybean using this system.Specifically,multiple sgRNAs were designed to target positive-and/or negative-sense strands of the SMV HC-Pro gene.Subsequently,the corresponding CRISPR/CasRx vectors were constructed and transformed into soybeans.After inoculation with SMV,39.02%,35.77%,and 18.70%of T_(1)plants were confirmed to be highly resistant(HR),resistant(R),and mildly resistant(MR)to SMV,respectively,whereas only 6.50%were identified as susceptible(S).Additionally,qRT-PCR and DAS-ELISA showed that,both at 15 and 30 d post-inoculation(dpi),SMV accumulation significantly decreased or was even undetectable in HR and R plants,followed by MR and S plants.Additionally,the expression level of the CasRx gene varied in almost all T_(1)plants with different resistance level,both at 15 and 30 dpi.Furthermore,when SMV resistance was evaluated in the T_(2)generation,the results were similar to those recorded for the T_(1)generation.These findings provide new insights into the application of the CRISPR/CasRx system for soybean improvement and offer a promising alternative strategy for breeding for resistance to biotic stress that will contribute to the development of SMV-immune soybean germplasm to accelerate progress towards greater soybean crop productivity.

Turnip mosaic virus pathogenesis and host resistance mechanisms in Brassica

Turnip mosaic virus(TuMV)is a devastating potyvirus pathogen that infects a wide variety of both cultivated and wild Brassicaceae plants.We urgently need more information and understanding of TuMV pathogenesis and the host responses involved in disease development in cruciferous crops.TuMV displays great versatility in viral pathogenesis,especially in its replication and intercellular movement.Moreover,in the coevolutionary arms races between TuMV and its hosts,the virus has evolved to co-opt host factors to facilitate its infection and counter host defense responses.This review mainly focuses on recent advances in understanding the viral factors that contribute to the TuMV infection cycle and the host resistance mechanism in Brassica.Finally,we propose some future research directions on TuMV pathogenesis and control strategies to design durable TuMV-resistant Brassica crops.

基于改进的Faster RCNN的仪表自动识别方法

在环境复杂的工业场景中,仪表盘存在类别多、相似性高等问题,导致检测的识别效果较差、准确率不高。针对这一问题,提出了一种基于改进的更快速的区域卷积神经网络(Faster RCNN)的仪表自动识别方法。首先,采用残差网络(Resnet)101代替视觉几何群网络(VGG)16,进行了网络结构简化;然后,引入了特征金字塔网络(FPN),并将其改进为递归特征金字塔网络后进行了迭代融合,输出了特征图;接着,引入了注意力机制模块,根据特征的重要程度,完成了对输出通道权值的重新分配,增强了Faster RCNN对目标的运算能力;提出了改进非极大值抑制算法(Softer-NMS),通过降低置信度来确定准确的目标候选框;最后,采用Mosaic数据增强技术对可视对象类(VOC)2007数据集进行了扩充,对改进后的Faster RCNN模型进行了仪表自动识别的实验。研究结果表明:在相同工业环境下,与传统的Faster RCNN算法模型相比,改进后的Faster RCNN模型准确率为93.5%,较原模型提高了3.8%,mAP值为92.6%,较原模型提高了3.7%,可见该方法在实际生产中具有较强的鲁棒性与泛化能力,可满足工业上对智能检测的要求。

Floristic Diversity, Stand Structure and Plant Life Traits in the Forest-Savanna Mosaic at Ndjole (Centre Cameroon)

With the aim of assessing floristic diversity, stand structure and vegetation ecology, the present work was carried out in the savanna mosaic forest of the locality of Ndjole (Centre Cameroon). A total of 30 floristic plots of 40 m × 40 m (1600 m2) were delineated in the different ecosystems (forest, forest-savanna contact zone and the savanna). Within each plot, all individuals with a diameter at breast height ≥ 10 cm at 1.30 m were taken into account. ANOVA was used to compare the means of the diversity indices of the different ecosystems, and the DUNCAN test at 5% significance level (XLSTAT 2016) to separate these means. A total of 85 species belonging to 67 genera and 33 families were recorded. That is, 68 species in semi-caducifolia forest, 45 in forest-savanna contact zone and 18 in savanna. Urticaceae, Combretaceae, Apocynaceae, Myristicaceae and Euphorbiaceae are the most diverse families in the forest. On the other hand, in contact zones, the Euphorbiaceae, Fabaceae, Annonaceae and Moraceae families are the most diversified, while in the savannas, the Combretaceae, Fabaceae and Annonaceae families are the most diversified. Shannon’s diversity index values (1.7 to 2.37 bits) reflect low specific diversity;Piélou’s equitability (0.86 to 0.9) shows good distribution of individuals within species. The diametric structure of woody species shows an inverted “J” shape in all plant communities. This indicates a high regeneration potential characterized by a greater number of small trees than large trees. Mesophanerophytes and megaphanerophytes are dominant in forests and forest-savanna contact zones, and microphanerophytes in the savannas. Endozoochory is the main mode of diaspore dissemination. As regards the distribution of phytogeographical types, it shows the overall dominance of Guineo-Congolese species in all plant communities. Our study provides detailed data on forest-savanna floristic and plant life traits in the mosaic and recommends further studies on the impact of environmental parameter variations on the forest encroachment into savanna.