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.

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.

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.

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.

Reactions of Maruca Resistant Transgenic Cowpea to Cowpea Aphid-Borne Mosaic Virus

Cowpea (Vigna unguiculata L. [Walp.]) in one of the main grain legumes contributing to food security and poverty alleviation in Sub-Saharan Africa. To control the highly damaging legume pod borer Maruca vitrata F., transgenic cowpea lines expressing the insecticidal Cry1Ab Bt protein were developed. In this study, we evaluated the impact of Cry1Ab transgene expression on the susceptibility of four cowpea lines (named IT97K-T, IT98K-T, Gourgou-T and Nafi-T) and their respective non-transgenic near isogenic lines (IT97K, IT98K, Gourgou and Nafi) to Cowpea aphid-borne mosaic virus (CABMV) in greenhouse conditions. In a preliminary quality control test by enzyme-linked immunosorbent assay, the presence of Cry1Ab protein in transgenic seed lots ranged from 59% to 72%, with no significant differences among the lines (χ2 = 3.26;p = 0.35). Upon virus inoculation, all cowpea lines exhibited mosaic symptoms with similar severity between 7- and 11-day post-inoculation. No significant differences were observed in symptom severity. Significant differences were found between cowpea lines for time of symptom onset, virus accumulation in plants and days to 50% flowering. However, while comparing pairs of transgenic lines and corresponding non-transgenic lines, virus accumulation showed not significant differences whatever the pair. Time of symptom onset and days to 50% flowering did not also differ significantly between pairs of cowpea lines except Nafi/Nafi-T in which transgenic Nafi-T showed earlier symptoms (7.4 ± 0.7 vs. 8.9 ± 0.8 days post-inoculation) and shorter flowering time (37.3 ± 0.6 vs. 42 ± 1.7 days after sowing). Overall, these findings improve our understanding of the effects of Cry1Ab gene mediated genetic modification on cowpea infection by Cowpea aphid-borne mosaic virus, with potential implications for environmental safety assessment.

Degradation of FAK-targeting by proteolytic targeting chimera technology to inhibit the metastasis of hepatocellular carcinoma

Liver cancer is a prevalent malignant cancer,ranking third in terms of mortality rate.Metastasis and recurrence primarily contribute to the high mortality rate of liver cancer.Hepatocellular carcinoma(HCC)has low expression of focal adhesion kinase(FAK),which increases the risk of metastasis and recurrence.Nevertheless,the efficacy of FAK phosphorylation inhibitors is currently limited.Thus,investigating the mechanisms by which FAK affects HCC metastasis to develop targeted therapies for FAK may present a novel strategy to inhibit HCC metastasis.This study examined the correlation between FAK expression and the prognosis of HCC.Additionally,we explored the impact of FAK degradation on HCC metastasis through wound healing experiments,transwell invasion experiments,and a xenograft tumor model.The expression of proteins related to epithelial-mesenchymal transition(EMT)was measured to elucidate the underlying mechanisms.The results showed that FAK PROTAC can degrade FAK,inhibit the migration and invasion of HCC cells in vitro,and notably decrease the lung metastasis of HCC in vivo.Increased expression of E-cadherin and decreased expression of vimentin indicated that EMT was inhibited.Consequently,degradation of FAK through FAK PROTAC effectively suppressed liver cancer metastasis,holding significant clinical implications for treating liver cancer and developing innovative anti-neoplastic drugs.

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.

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.

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.

MOSAICISM CONFINED TO PLACENTA IN PREGNANCIES WITH ADVERSE OUTCOME

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A case of 46, XY/47, XYY mosaicism

In some clinical features, the failure of the couple to reproduce may be related to the chromosome abnormality of the patient. This report was based on one example about the topic.

An image mosaic technique with non-overlapping regions based on microscopic vision in precision assembly

Microscopic vision has been widely applied in precision assembly.To achieve sufficiently high resolution in measurements for precision assembly when the sizes of the parts involved exceed the field of view of the vision system,an image mosaic technique must be used.In this paper,a method for constructing an image mosaic with non-overlapping areas with enhanced efficiency is proposed.First,an image mosaic model for the part is created using a geometric model of the measurement system installed on a X-Y-Z precision stages with high repeatability,and a path for image acquisition is established.Second,images are captured along the same path for a specified calibration plate,and an entire image is formed based on the given model.The measurement results obtained from the specified calibration plate are utilized to identify mosaic errors and apply compensation for the part requiring measurement.Experimental results show that the maximum error is less than 4μm for a camera with pixel equivalent 2.46μm,thereby demonstrating the accuracy of the proposed method.This image mosaic technique with non-overlapping regions can simplify image acquisition and reduce the workload involved in constructing an image mosaic.

General mapping of one-dimensional non-Hermitian mosaic models to non-mosaic counterparts:Mobility edges and Lyapunov exponents

We establish a general mapping from one-dimensional non-Hermitian mosaic models to their non-mosaic counterparts.This mapping can give rise to mobility edges and even Lyapunov exponents in the mosaic models if critical points of localization or Lyapunov exponents of localized states in the corresponding non-mosaic models have already been analytically solved.To demonstrate the validity of this mapping,we apply it to two non-Hermitian localization models:an Aubry-Andre-like model with nonreciprocal hopping and complex quasiperiodic potentials,and the Ganeshan-Pixley-Das Sarma model with nonreciprocal hopping.We successfully obtain the mobility edges and Lyapunov exponents in their mosaic models.This general mapping may catalyze further studies on mobility edges,Lyapunov exponents,and other significant quantities pertaining to localization in non-Hermitian mosaic models.

GmTOC1b negatively regulates resistance to Soybean mosaic virus

Soybean(Glycine max)is a major oil and feed crop worldwide.Soybean mosaic virus(SMV)is a globally occurring disease that severely reduces the yield and quality of soybean.Here,we characterized the role of the clock gene TIMING OF CAB EXPRESSION 1b(GmTOC1b)in the resistance of soybean to SMV.Homozygous Gmtoc1b mutants exhibited increased tolerance to SMV strain SC3 due to the activation of programmed cell death triggered by a hypersensitive response.Transcriptome deep sequencing and RT-qPCR analysis suggested that GmTOC1b likely regulates the expression of target genes involved in the salicylic acid(SA)signaling pathway.GmTOC1b binds to the promoter of GmWRKY40,which encodes a protein that activates the expression of SA-mediated defense-related genes.Moreover,we revealed that the GmTOC1bH1 haplotype,which confers increased tolerance to SMV,was artificially selected in improved cultivars from the Northern and Huang-Huai regions of China.Our results therefore identify a previously unknown SMV resistance component that could be deployed in the molecular breeding of soybean to enhance SMV resistance.

The Clinical Outcomes of Mosaic Embryo Transfer in Preimplantation Genetic Testing Cycles

Purpose: We aimed to analyze the pregnancy outcomes and perinatal follow-up of mosaic embryo transfer in the preimplantation genetic testing (PGT) cycles. Method: We retrospectively selected 27 mosaic embryo transfer cycles as the study group and 97 euploid embryo transfer cycles as the control group after propensity score matching, which were performed in the reproductive medicine center of the Sixth Affiliated Hospital, Sun Yat-sen University, from March 2019 to September 2023. The biopsy cells from blastocyst were undertaken next generation sequencing (NGS). Results: No significant difference in pregnancy outcomes compared between the two groups. According to the size of aneuploid, fragment the level of mosaicism or blastocyst morphological gradings, there were no significant difference in mosaic embryo transfers. Conclusion: Mosaic embryo detected in the PGT cycle can lead to clinical pregnancy and live birth of healthy offspring, which can be considerate suitable for transfer.

“Rigid-elastic chimera” pore skeleton model and overpressure porosity measurement method for shale: A case study of the deep overpressure siliceous shale of Silurian Longmaxi Formation in southern Sichuan Basin, SW China

Based on analysis of pore features and pore skeleton composition of shale,a“rigid elastic chimeric”pore skeleton model of shale gas reservoir was built.Pore deformation mechanisms leading to increase of shale porosity due to the pore skeleton deformation under overpressure were sorted out through analysis of stress on the shale pore and skeleton.After reviewing the difficulties and defects of existent porosity measurement methods,a dynamic deformed porosity measurement method was worked out and used to measure the porosity of overpressure Silurian Longmaxi Formation shale under real formation conditions in southern Sichuan Basin.The results show:(1)The shale reservoir is a mixture of inorganic rock particles and organic matter,which contains inorganic pores supported by rigid skeleton particles and organic pores supported by elastic-plastic particles,and thus has a special“rigid elastic chimeric”pore structure.(2)Under the action of formation overpressure,the inorganic pores have tiny changes that can be assumed that they don’t change in porosity,while the organic pores may have large deformation due to skeleton compression,leading to the increase of radius,connectivity and ultimately porosity of these pores.(3)The“dynamic”deformation porosity measurement method combining high injection pressure helium porosity measurement and kerosene porosity measurement method under ultra-high variable pressure can accurately measure porosity of unconnected micro-pores under normal pressure conditions,and also the porosity increment caused by plastic skeleton compression deformation.(4)The pore deformation mechanism of shale may result in the"abnormal"phenomenon that the shale under formation conditions has higher porosity than that under normal pressure,so the overpressure shale reservoir is not necessarily“ultra-low in porosity”,and can have porosity over 10%.Application of this method in Well L210 in southern Sichuan has confirmed its practicality and reliability.

淮北石台煤矿接触变质煤速热碳化的微组构解译

作为岩浆吞噬煤层的信息记录者和物质承载者,接触变质煤是揭示煤层速热碳化过程和机理的重要研究对象。为此,本研究采集了淮北石台煤矿不同热变质程度的接触变质煤样品,利用镜质组反射率测试、元素分析、工业分析、偏光显微镜(PLM)和扫描电镜(SEM)等实验手段,表征其微组构特征,以期揭示煤层速热碳化的机理和过程。结果显示,从未受影响煤、浅热变质煤到天然焦,样品最大镜质组反射率、灰分产率升高,氢、氮元素以及挥发分含量降低。未受影响煤显微组分以胶质结构体为主,局部发育丝质体;浅热变质煤中裂隙发育、少见脱挥发孔;靠近岩体的块状天然焦中镶嵌结构炭和脱挥发孔发育,孔径多介于20~150μm;岩体内的细脉状天然焦,主要由多孔炭和炭微球组成,富含圆形—椭圆形气孔,孔径多介于1~3μm。分析表明,趋近岩体,接触变质煤热变质程度连续增加:浅热变质煤是煤层受较弱热变质而脆性断裂的结果;天然焦是浅热变质煤热解脱挥发分和中间相化的产物;至岩体附近,天然焦被液化成多孔炭和炭微球,后二者最终被氧化为气态碳氧化物而消失。我们认为,岩浆接触变质煤速热碳化的实质就是固态煤岩被岩浆热解而中间相化、液化和氧化气化的过程。

45,X/47,XYY性发育异常一例并文献复习

45,X/47,XYY性发育异常是一种由于罕见的染色体异常导致的性发育异常疾病。报告1例收治的45,X/47,XYY嵌合型性发育异常患者,该患者主因原发性闭经并出现男性化表现就诊,具有特纳综合征(Turner syndrome,Turner综合征)的表现,腹腔镜探查显示一侧性腺为条索状,另一侧外观睾丸样,病理为卵睾型性腺,手术切除双侧附件并予人工周期治疗,有月经来潮。结合本例及检索到的文献报道的女性表型中因原发性闭经就诊的病例共11例,对该病的临床表现、诊断及治疗方式进行总结。女性表型45,X/47,XYY性发育异常患者临床表现多样,以Turner综合征表现合并男性化表现多见,应尽早发现并切除发育不良的性腺,防止性腺肿瘤的发生和男性化表现出现。术后进行长期激素替代治疗,同时注重患者精神心理的疏导。