Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants （CNVs） in products ...Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants （CNVs） in products of conception （POC） and the underlying gene- dosage-sensitive mechanisms causing spontaneous abortions remain largely unknown. In this study, array comparative genornic hybridiza- tion （aCGH） analysis was performed as a salvage procedure for 128 POC culture failure （POC-CF） samples and as a supplemental procedure for 106 POC normal karyotype （POC-NK） samples. Chromosomal abnormalities were detected in 10% of POC-CF and pathogenic CNVs were detected in 3.9% of POC-CF and 5.7% of POC-NK samples. Compiled results from this study and relevant case series through a literature review demonstrated an abnormality detection rate （ADR） of 35% for chromosomal abnormalities in POC-CF samples, 3.7% for pathogenic CNVs in POC-CF samples, and 4.6% for pathogenic CNVs in POC-NK samples. Ingenuity Pathway Analysis （IPA） was performed on the genes from pathogenic CNVs found in POC samples. The denoted primary gene networks suggested that apoptosis and cell proliferation pathways are involved in miscarriage. In summary, a similar spectrum of cytogenomic abnormalities was observed in POC culture success and POC-CF samples. A threshold effect correlating the number of dosage-sensitive genes in a chromosome with the observed frequency of autosomai trisomy is proposed. A rationalized approach using firstly fluorescence in situ hybridization （FISH） testing with probes of chromosomes X/Y/ 18, 13/21, and 15/16/22 for common aneuploidies and polyploidies and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF samples.展开更多
The first decade since the completion of the Human Genome Project has been marked with rapid development of genomic technologies and their immediate clinical applications. Genomic analysis using oligonucleotide array ...The first decade since the completion of the Human Genome Project has been marked with rapid development of genomic technologies and their immediate clinical applications. Genomic analysis using oligonucleotide array comparative genomic hybridization （aCGH） or single nucleotide polymorphism （SNP） chips has been applied to pediatric patients with developmental and intellectual disabilities （DD/ ID）, multiple congenital anomalies （MCA） and autistic spectrum disorders （ASD）. Evaluation of analytical and clinical validities of aCGH showed 〉 99% sensitivity and specificity and increased analytical resolution by higher density probe coverage. Reviews of case series, multi-center comparison and large patient-control studies demonstrated a diagnostic yield of 12%--20%; approximately 60% of these abnormalities were recurrent genomic disorders. This pediatric experience has been extended toward prenatal diagnosis. A series of reports indicated approximately 10% of pregnancies with ultrasound-detected structural anomalies and normal cytogenetic findings had genomic abnormalities, and 30% of these abnormalities were syndromic genomic disorders. Evidence-based practice guidelines and standards for implementing genomic analysis and web-delivered knowledge resources for interpreting genomic findings have been established. The progress from this technology-driven and evidence-based genomic analysis provides not only opportunities to dissect disease-causing mechanisms and develop rational therapeutic interventions but also important lessons for integrating genomic sequencing into pediatric and prenatal genetic evaluation.展开更多
Polaritons are quasi-particles that combine light with matter,enabling precise control of light at deep subwavelength scales.The excitation and propagation of polaritons are closely linked to the structural symmetries...Polaritons are quasi-particles that combine light with matter,enabling precise control of light at deep subwavelength scales.The excitation and propagation of polaritons are closely linked to the structural symmetries of the host materials,resulting in symmetrical polariton propagation in high-symmetry materials.However,in low-symmetry crystals,symmetry-broken polaritons exist,exhibiting enhanced directionality of polariton propagation for nanoscale light manipulation and steering.Here,we theoretically propose and experimentally demonstrate the existence of symmetry-broken polaritons,with hyperbolic dispersion,in a high-symmetry crystal.We show that an optical disk-antenna positioned on the crystal surface can act as an in-plane polarized excitation source,enabling dynamic tailoring of the asymmetry of hyperbolic polariton propagation in the high-symmetry crystal over a broad frequency range.Additionally,we provide an intuitive analysis model that predicts the condition under which the asymmetric polaritonic behavior is maximized,which is corroborated by our simulations and experiments.Our results demonstrate that the directionality of polariton propagation can be conveniently configured,independent of the structure symmetry of crystals,providing a tuning knob for the polaritonic response and in-plane anisotropy in nanophotonic applications.展开更多
Enhanced light-matter interactions are the basis of surface-enhanced infrared absorption(SEIRA)spectroscopy,and conventionally rely on plasmonic materials and their capability to focus light to nanoscale spot sizes.Ph...Enhanced light-matter interactions are the basis of surface-enhanced infrared absorption(SEIRA)spectroscopy,and conventionally rely on plasmonic materials and their capability to focus light to nanoscale spot sizes.Phonon polariton nanoresonators made of polar crystals could represent an interesting alternative,since they exhibit large quality factors,which go far beyond those of their plasmonic counterparts.The recent emergence of van der Waals crystals enables the fabrication of highquality nanophotonic resonators based on phonon polaritons,as reported for the prototypical infrared-phononic material hexagonal boron nitride(h-BN).In this work we use,for the first time,phonon-polariton-resonant h-BN ribbons for SEIRA spectroscopy of small amounts of organic molecules in Fourier transform infrared spectroscopy.Strikingly,the interaction between phonon polaritons and molecular vibrations reaches experimentally the onset of the strong coupling regime,while numerical simulations predict that vibrational strong coupling can be fully achieved.Phonon polariton nanoresonators thus could become a viable platform for sensing,local control of chemical reactivity and infrared quantum cavity optics experiments.展开更多
Polaritons in two-dimensional(2D)materials continues to garner significant attention due to their favorable ability of field-confinement and intriguing potential for low-loss and ultrafast optical and photonic devices...Polaritons in two-dimensional(2D)materials continues to garner significant attention due to their favorable ability of field-confinement and intriguing potential for low-loss and ultrafast optical and photonic devices.The recent experimental observation of in-plane anisotropic dispersion in natural van der Waals materials has revealed much richer physics as compared to isotropic plasmonic materials,which provides new insight to manipulate the polaritons and manufacture flat optical devices with unprecedented controls.Herein,we give an overview of the recent progress in in-plane anisotropic polaritons launched and visualized in the near-field range in 2D layered van der Waals materials.Furthermore,future prospects in this promising but emerging field are featured on the basis of its peculiar applications.This review article will stimulate the scientific community to explore other hyperbolic materials and structures in order to develop optical technologies with novel functionalities and further improve the understanding of the exotic photonic phenomena.展开更多
基金partially supported by Guangdong Innovative and Entrepreneurial Research Team Program (No. 201301S0105240297)by 111 Project
文摘Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants （CNVs） in products of conception （POC） and the underlying gene- dosage-sensitive mechanisms causing spontaneous abortions remain largely unknown. In this study, array comparative genornic hybridiza- tion （aCGH） analysis was performed as a salvage procedure for 128 POC culture failure （POC-CF） samples and as a supplemental procedure for 106 POC normal karyotype （POC-NK） samples. Chromosomal abnormalities were detected in 10% of POC-CF and pathogenic CNVs were detected in 3.9% of POC-CF and 5.7% of POC-NK samples. Compiled results from this study and relevant case series through a literature review demonstrated an abnormality detection rate （ADR） of 35% for chromosomal abnormalities in POC-CF samples, 3.7% for pathogenic CNVs in POC-CF samples, and 4.6% for pathogenic CNVs in POC-NK samples. Ingenuity Pathway Analysis （IPA） was performed on the genes from pathogenic CNVs found in POC samples. The denoted primary gene networks suggested that apoptosis and cell proliferation pathways are involved in miscarriage. In summary, a similar spectrum of cytogenomic abnormalities was observed in POC culture success and POC-CF samples. A threshold effect correlating the number of dosage-sensitive genes in a chromosome with the observed frequency of autosomai trisomy is proposed. A rationalized approach using firstly fluorescence in situ hybridization （FISH） testing with probes of chromosomes X/Y/ 18, 13/21, and 15/16/22 for common aneuploidies and polyploidies and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF samples.
基金supported in part by fellowship award from the China Scholarship Council to Yuan Wei
文摘The first decade since the completion of the Human Genome Project has been marked with rapid development of genomic technologies and their immediate clinical applications. Genomic analysis using oligonucleotide array comparative genomic hybridization （aCGH） or single nucleotide polymorphism （SNP） chips has been applied to pediatric patients with developmental and intellectual disabilities （DD/ ID）, multiple congenital anomalies （MCA） and autistic spectrum disorders （ASD）. Evaluation of analytical and clinical validities of aCGH showed 〉 99% sensitivity and specificity and increased analytical resolution by higher density probe coverage. Reviews of case series, multi-center comparison and large patient-control studies demonstrated a diagnostic yield of 12%--20%; approximately 60% of these abnormalities were recurrent genomic disorders. This pediatric experience has been extended toward prenatal diagnosis. A series of reports indicated approximately 10% of pregnancies with ultrasound-detected structural anomalies and normal cytogenetic findings had genomic abnormalities, and 30% of these abnormalities were syndromic genomic disorders. Evidence-based practice guidelines and standards for implementing genomic analysis and web-delivered knowledge resources for interpreting genomic findings have been established. The progress from this technology-driven and evidence-based genomic analysis provides not only opportunities to dissect disease-causing mechanisms and develop rational therapeutic interventions but also important lessons for integrating genomic sequencing into pediatric and prenatal genetic evaluation.
基金the National Natural Science Foundation of China(Grant No.62075070 and 52172162)National Key Research and Development Program of China(Grant No.2021YFA1201500)+5 种基金Hubei Provincial Natural Science Foundation of China(Grant No.2022CFA053)the Innovation Fund of WNLOthe Natural Science Foundation of Guangdong Province(2022A1515012145)Shenzhen Science and Technology Program(JCYJ20220530162403007)Key Research and Development Plan of Hubei Provincethe Fundamental Research Funds for the Central Universities,HUST(Grant No.2022JYCXJJ009).
文摘Polaritons are quasi-particles that combine light with matter,enabling precise control of light at deep subwavelength scales.The excitation and propagation of polaritons are closely linked to the structural symmetries of the host materials,resulting in symmetrical polariton propagation in high-symmetry materials.However,in low-symmetry crystals,symmetry-broken polaritons exist,exhibiting enhanced directionality of polariton propagation for nanoscale light manipulation and steering.Here,we theoretically propose and experimentally demonstrate the existence of symmetry-broken polaritons,with hyperbolic dispersion,in a high-symmetry crystal.We show that an optical disk-antenna positioned on the crystal surface can act as an in-plane polarized excitation source,enabling dynamic tailoring of the asymmetry of hyperbolic polariton propagation in the high-symmetry crystal over a broad frequency range.Additionally,we provide an intuitive analysis model that predicts the condition under which the asymmetric polaritonic behavior is maximized,which is corroborated by our simulations and experiments.Our results demonstrate that the directionality of polariton propagation can be conveniently configured,independent of the structure symmetry of crystals,providing a tuning knob for the polaritonic response and in-plane anisotropy in nanophotonic applications.
基金support from the European Commission under the Graphene Flagship(GrapheneCore1,Grant no.696656)the Marie Sklodowska-Curie individual fellowship(SGPCM-705960)+4 种基金the Spanish Ministry of Economy and Competitiveness(Maria de Maetzu Units of Excellence Programme MDM-2016-0618 and national projects FIS2014-60195-JIN,MAT2014-53432-C5-4-R,MAT2015-65525-R,MAT2015-65159-R,FIS2016-80174-P,MAT2017-88358-C3-3-R)the Basque government(PhD fellowship PRE-2016-1-0150,PRE-2016-2-0025)the Department of Industry of the Basque Government(ELKARTEK project MICRO4FA)the Regional Council of Gipuzkoa(project no.100/16)the ERC starting grant 715496,2DNANOPTICA.
文摘Enhanced light-matter interactions are the basis of surface-enhanced infrared absorption(SEIRA)spectroscopy,and conventionally rely on plasmonic materials and their capability to focus light to nanoscale spot sizes.Phonon polariton nanoresonators made of polar crystals could represent an interesting alternative,since they exhibit large quality factors,which go far beyond those of their plasmonic counterparts.The recent emergence of van der Waals crystals enables the fabrication of highquality nanophotonic resonators based on phonon polaritons,as reported for the prototypical infrared-phononic material hexagonal boron nitride(h-BN).In this work we use,for the first time,phonon-polariton-resonant h-BN ribbons for SEIRA spectroscopy of small amounts of organic molecules in Fourier transform infrared spectroscopy.Strikingly,the interaction between phonon polaritons and molecular vibrations reaches experimentally the onset of the strong coupling regime,while numerical simulations predict that vibrational strong coupling can be fully achieved.Phonon polariton nanoresonators thus could become a viable platform for sensing,local control of chemical reactivity and infrared quantum cavity optics experiments.
基金Australian Research Council,Grant/Award Numbers:IH150100006,CE170100039China Postdoctoral Science Foundation,Grant/Award Number:2017M622758,LHTD20170006+1 种基金support from the China Postdoctoral Science Foundation Grant(No.2017 M622758)Q.Bao acknowledges the support from the Australian Research Council(ARC,IH150100006,FT150100450,and CE170100039).
文摘Polaritons in two-dimensional(2D)materials continues to garner significant attention due to their favorable ability of field-confinement and intriguing potential for low-loss and ultrafast optical and photonic devices.The recent experimental observation of in-plane anisotropic dispersion in natural van der Waals materials has revealed much richer physics as compared to isotropic plasmonic materials,which provides new insight to manipulate the polaritons and manufacture flat optical devices with unprecedented controls.Herein,we give an overview of the recent progress in in-plane anisotropic polaritons launched and visualized in the near-field range in 2D layered van der Waals materials.Furthermore,future prospects in this promising but emerging field are featured on the basis of its peculiar applications.This review article will stimulate the scientific community to explore other hyperbolic materials and structures in order to develop optical technologies with novel functionalities and further improve the understanding of the exotic photonic phenomena.
