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1.
Adv Mater ; 36(21): e2312880, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38330999

RESUMEN

While layered metal oxides remain the dominant cathode materials for the state-of-the-art lithium-ion batteries, conversion-type cathodes such as sulfur present unique opportunities in developing cheaper, safer, and more energy-dense next-generation battery technologies. There has been remarkable progress in advancing the laboratory scale lithium-sulfur (Li-S) coin cells to a high level of performance. However, the relevant strategies cannot be readily translated to practical cell formats such as pouch cells and even battery pack. Here these key technical challenges are addressed by molecular engineering of the Li metal for hydrophobicization, fluorination and thus favorable anode chemistry. The introduced tris(2,4-di-tert-butylphenyl) phosphite (TBP) and tetrabutylammonium fluoride (TBA+F-) as well as cellulose membrane by rolling enables the formation of a functional thin layer that eliminates the vulnerability of Li metal towards the already demanding environment required (1.55% relative humidity) for cell production and gives rise to LiF-rich solid electrolyte interphase (SEI) to suppress dendrite growth. As a result, Li-S pouch cells assembled at a pilot production line survive 400 full charge/discharge cycles with an average Coulombic efficiency of 99.55% and impressive rate performance of 1.5 C. A cell-level energy density of 417 Wh kg-1 and power density of 2766 W kg-1 are also delivered via multilayer Li-S pouch cell. The Li-S battery pack can even power an unmanned aerial vehicle of 3 kg for a fairly long flight time. This work represents a big step forward acceleration in Li-S battery marketization for future energy storage featuring improved safety, sustainability, higher energy density as well as reduced cost.

2.
Adv Mater ; 35(51): e2304762, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37669852

RESUMEN

The safe operation of rechargeable batteries is crucial because of numerous instances of fire and explosion mishaps. However, battery chemistry involving metallic lithium (Li) as the anode is prone to thermal runaway in flammable organic electrolytes under abusive conditions. Herein, an in situ encapsulation strategy is proposed to construct nonflammable quasi-solid electrolytes through the radical polymerization of a hexafluorobutyl acrylate (HFBA) monomer and a pentaerythritol tetraacrylate (PETEA) crosslinker. The quasi-solid system eliminates the inherent flammability of ether electrolytes with zero self-extinguishing time owing to the gas-phase radical capturing ability of HFBA. Additionally, the graphitized carbon layer generated during the decomposition of PETEA at high temperatures obstructs the heat and oxygen required for combustion. When coupled with Au-modified reduced graphene oxide anodic current collectors and lithium sulfide cathodes, the assembled anode-free Li-metal cell based on the quasi-solid electrolyte exhibits no signs of cell expansion or gas generation during cycling, and thermal runaway is eliminated under multiple mechanical, electrical, and thermal abuse scenarios and even rigorous strikes. This nonflammable quasi-solid configuration with gas- and condensed-phase flame-retardant mechanisms can drive a technological leap in anode-free Li-metal pouch cells and secure the practical applications necessary to power this society in a safe manner.

3.
Adv Mater ; 35(51): e2301063, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37285592

RESUMEN

Neuromorphic computing has been attracting ever-increasing attention due to superior energy efficiency, with great promise to promote the next wave of artificial general intelligence in the post-Moore era. Current approaches are, however, broadly designed for stationary and unitary assignments, thus encountering reluctant interconnections, power consumption, and data-intensive computing in that domain. Reconfigurable neuromorphic computing, an on-demand paradigm inspired by the inherent programmability of brain, can maximally reallocate finite resources to perform the proliferation of reproducibly brain-inspired functions, highlighting a disruptive framework for bridging the gap between different primitives. Although relevant research has flourished in diverse materials and devices with novel mechanisms and architectures, a precise overview remains blank and urgently desirable. Herein, the recent strides along this pursuit are systematically reviewed from material, device, and integration perspectives. At the material and device level, one comprehensively conclude the dominant mechanisms for reconfigurability, categorized into ion migration, carrier migration, phase transition, spintronics, and photonics. Integration-level developments for reconfigurable neuromorphic computing are also exhibited. Finally, a perspective on the future challenges for reconfigurable neuromorphic computing is discussed, definitely expanding its horizon for scientific communities.

4.
Small ; 19(38): e2301433, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37263991

RESUMEN

Lithium metal batteries are intensively studied due to the potential to bring up breakthroughs in high energy density devices. However, the inevitable growth of dendrites will cause the rapid failure of battery especially under high current density. Herein, the utilization of tetrachloroethylene (C2 Cl4 ) is reported as the electrolyte additive to induce the formation of the LiCl-rich solid electrolyte interphase (SEI). Because of the lower Li ion diffusion barrier of LiCl, such SEI layer can supply sufficient pathway for rapid Li ion transport, alleviate the concentration polarization at the interface and inhibit the growth of Li dendrites. Meanwhile, the C2 Cl4 can be continuously replenished during the cycle to ensure the stability of the SEI layer. With the aid of C2 Cl4 -based electrolyte, the Li metal electrodes can maintain stable for >300 h under high current density of 50 mA cm-2 with areal capacity of 5 mAh cm-2 , broadening the compatibility of lithium metal anode toward practical application scenarios.

5.
Nanomaterials (Basel) ; 12(14)2022 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-35889623

RESUMEN

Hydrated V2O5 with unique physical and chemical characteristics has been widely used in various function devices, including solar cells, catalysts, electrochromic windows, supercapacitors, and batteries. Recently, it has attracted extensive attention because of the enormous potential for the high-performance aqueous zinc ion battery cathode. Although great progress has been made in developing applications of hydrated V2O5, little research focuses on improving current synthesis methods, which have disadvantages of massive energy consumption, tedious reaction time, and/or low efficiency. Herein, an improved synthesis method is developed for hydrated V2O5 nanoflakes according to the phenomenon that the reactions between V2O5 and peroxide can be dramatically accelerated with low-temperature heating. Porous hydrated V2O5 nanoflake gel was obtained from cheap raw materials at 40 °C in 30 min. It shows a high specific capacity, of 346.6 mAh/g, at 0.1 A/g; retains 55.2% of that at 20 A/g; and retains a specific capacity of 221.0 mAh/g after 1800 charging/discharging cycles at 1 A/g as an aqueous zinc ion battery cathode material. This work provides a highly facile and rapid synthesis method for hydrated V2O5, which may favor its applications in energy storage and other functional devices.

6.
Adv Mater ; 34(35): e2204697, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35793515

RESUMEN

Robust neuromorphic computing in the Big Data era calls for long-term stable crossbar-array memory cells; however, the elemental segregation in the switch unit and memory unit that inevitably occurs upon cycling breaks the compositional and structural stability, making the whole memory cell a failure. Searching for a novel material without segregation that can be used for both switch and memory units is the major concern to fabricate robust and reliable nonvolatile cross-array memory cells. Tellurium (Te) is found recently to be the only peculiar material without segregation for switching, but the memory function has not been demonstrated yet. Herein, apparent piezoelectricity is experimentally confirmed with spontaneous polarization behaviors in elementary 2D Te, even in monolayer tellurene (0.4 nm), due to the highly oriented polarization of the molecular structure and the non-centrosymmetric lattice structure. A large memory window of 7000, a low working voltage of 2 V, and high on switching current up to 36.6 µA µm-1 are achieved in the as-fabricated Te-based memory device, revealing the great promise of Te for both switching and memory units in one cell without segregation. The piezoelectric Te with spontaneous polarization provides a platform to build robust, reliable, and high-density logic-in-memory chips in neuromorphic computing.

7.
Mol Cytogenet ; 15(1): 17, 2022 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-35440058

RESUMEN

BACKGROUND: Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual disability, and distinctive craniofacial abnormalities. Congenital heart defects, skeletal abnormalities, urogenital anomalies, and hypotonia are found in some affected individuals. METHODS: We describe a 16-year-old patient presented with most of the hallmark phenotypes of trisomy 11q syndrome as well as exhibiting symptoms of hearing loss, seizures, and abnormal endocrinological and ophthalmological findings. Routine chromosome analysis and subsequent chromosomal microarray analysis (CMA) were performed to detect genetic abnormalities in this patient. RESULTS: We identified an abnormal male karyotype with a derivative chromosome 4 due to an unbalanced translocation between chromosomes 4 and chromosome 11. The CMA results revealed a 56 Mb duplication of chromosome 11q14.1-qter and a 874 Kb terminal deletion of the short arm of chromosome 4. CONCLUSION: A genomic imbalance resulting in partial trisomy 11q was found in a patient with multiple congenital anomalies. We compared the phenotypes of all known "pure" trisomy 11q cases in the literature and find that trisomy 11q23-qter is both recurrent and the most common cytogenetic abnormality found in the reported cases. It is associated with the core features of trisomy 11q syndrome.

8.
Small ; 17(44): e2104367, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34561953

RESUMEN

Lithium-sulfur battery promises great potential to promote the reform of energy storage field. Modified functional interlayer on separator has been recognized as efficient method to promote battery performances, mainly focusing on the entrapment and catalytic effect toward lithium polysulfide, while the mass transfer property across the interlayers has not been carefully considered. Herein, a dense layer composed of ion-inserted metal-organic frameworks is used to facilitate mass transfer across the layer and ensure high polysulfides entrapment efficiency. In situ Raman study reveals that the dense functional layer blocks the transfer of Li ions, while the ion-inserted layer can accelerate the ion-transfer kinetics and avoid the ion depletion caused polarization. As a result, a specific capacity of 742 mAh g-1 is obtained at 2 C, with the decay rate of 0.089% per cycle at 1 C over 600 cycles, demonstrating great potential for the application in advanced Li-S batteries.

9.
Front Genet ; 12: 697009, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34447409

RESUMEN

BACKGROUND: Submicroscopic segmental imbalances detected by array-comparative genomic hybridization (array-CGH) were discovered to be common in chronic myeloid leukemia (CML) patients with t(9;22) as the sole chromosomal anomaly. To confirm the findings of the previous study and expand the investigation, additional CML patients with t(9;22) as the sole chromosomal anomaly were recruited and copy number variants (CNVs) were searched for. METHODS: Karyotyping tests were performed on 106 CML patients during January 2010-September 2019 in our Genetics Laboratory. Eighty-four (79.2%) patients had the Philadelphia (Ph) chromosome as the sole chromosomal anomaly. Only 49(58.3%) of these 84 patients had sufficient marrow or leukemia blood materials to additionally be included in the array-CGH analysis. Fluorescence in situ hybridization (FISH) was carried out to confirm the genes covered by the deleted or duplicated regions of the CNVs. RESULTS: 11(22.4%) out of the 49 patients were found to have one to three somatic segmental somatic segmental (CNVs), including fourteen deletions and three duplications. The common region associated with deletions was on 9q33.3-34.12. Identified in five (45.5%) of the 11 positive patients with segmental CNVs, the deletions ranged from 106 kb to 4.1 Mb in size. Two (18.2%) cases had a deletion in the ABL1-BCR fusion gene on der (9), while three (27.3%) cases had a deletion in the ASS1 gene. The remaining CNVs were randomly distributed on different autosomes. CONCLUSION: Subtle genomic CNVs are relatively common in CML patients without cytogenetically visible additional chromosomal aberrations (ACAs). Long-term studies investigating the potential impact on patient prognosis and treatment outcome is underway.

10.
Analyst ; 146(16): 5008-5032, 2021 Aug 21.
Artículo en Inglés | MEDLINE | ID: mdl-34296232

RESUMEN

Surface-enhanced Raman scattering (SERS) has become one of the most sensitive analytical techniques for identifying the chemical components, molecular structures, molecular conformations, and the interactions between molecules. However, great challenges still need to be addressed until it can be widely accepted by the absolute quantification of analytes. Recently, many efforts have been devoted to addressing these issues via various electromagnetic (EM), chemical (CM), and EM-CM hybrid coupling enhancement strategies. In comparison with uncoupled SERS devices, they offer key advantages in terms of sensitivity, reproducibility, uniformity, stability, controllability and reliability. This review provides an in-depth analysis of coupled SERS devices, including coupling enhancement mechanisms, materials and approaches. Finally, we also discuss the remaining bottlenecks and possible strategies for the development of coupling-enhanced SERS devices in the future.


Asunto(s)
Espectrometría Raman , Reproducibilidad de los Resultados
11.
Dis Markers ; 2021: 9932837, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34194582

RESUMEN

Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. Dmins are rare in hematologic malignancies and are generally associated with a poor prognosis. Some case reports identified MYC or MLL gene amplification performing as dmin in myeloid neoplasms. FLT3 (FMS-related tyrosine kinase 3) acts as an oncogene in myeloid neoplasms which is associated with several signal transduction pathways. Genomic amplification of FLT3 has not been reported in hematological disease. The current study attempts to demonstrate the existence of double minute chromosomes via FLT3 gene amplification in a patient diagnosed with chronic myelomonocytic leukemia (CMML). Routine G-banded karyotype, array-based comparative genomic hybridization, and fluorescence in situ hybridization analyses were used to characterize the cytogenetic abnormality in the patient's bone marrow. FLT3 amplification as dmins in a patient with CMML was revealed. This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. The study also proposed another possible mechanism of FLT3 genes in leukemogenesis.


Asunto(s)
Amplificación de Genes , Leucemia Mielomonocítica Crónica/genética , Tirosina Quinasa 3 Similar a fms/genética , Hibridación Genómica Comparativa , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Persona de Mediana Edad , Cromosomas en Anillo
12.
Adv Mater ; 33(18): e2006124, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33768653

RESUMEN

The emergence of superconductivity in 2D materials has attracted much attention and there has been rapid development in recent years because of their fruitful physical properties, such as high transition temperature (Tc ), continuous phase transition, and enhanced parallel critical magnetic field (Bc ). Tremendous efforts have been devoted to exploring different physical parameters to figure out the mechanisms behind the unexpected superconductivity phenomena, including adjusting the thickness of samples, fabricating various heterostructures, tuning the carrier density by electric field and chemical doping, and so on. Here, different types of 2D superconductivity with their unique characteristics are introduced, including the conventional Bardeen-Cooper-Schrieffer superconductivity in ultrathin films, high-Tc superconductivity in Fe-based and Cu-based 2D superconductors, unconventional superconductivity in newly discovered twist-angle bilayer graphene, superconductivity with enhanced Bc , and topological superconductivity. A perspective toward this field is then proposed based on academic knowledge from the recently reported literature. The aim is to provide researchers with a clear and comprehensive understanding about the newly developed 2D superconductivity and promote the development of this field much further.

13.
Adv Mater ; 33(5): e2004469, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33325574

RESUMEN

The emergence of 2D polarized materials, including ferromagnetic, ferrovalley, and ferroelectric materials, has demonstrated unique quantum behaviors at atomic scales. These polarization behaviors are tightly bonded to the new degrees of freedom (DOFs) for next generation information storage and processing, which have been dramatically developed in the past few years. Here, the basic 2D polarized materials system and related devices' application in spintronics, valleytronics, and electronics are reviewed. Specifically, the underlying physical mechanism accompanied with symmetry broken theory and the modulation process through heterostructure engineering are highlighted. These summarized works focusing on the 2D polarization would continue to enrich the cognition of 2D quantum system and promising practical applications.

14.
Brain Imaging Behav ; 15(2): 788-797, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32314196

RESUMEN

Intrinsic functional connectivity (FC) networks, including the default mode network (DMN), central executive network (CEN), and salience network (SN), have been implicated in nicotine addiction. However, litter evidence exists about the abnormalities in the three networks in young adult smokers. Forty-eight young adult smokers and 49 age- and gender-matched non-smokers were recruited in the present study. Resting-state functional magnetic resonance imaging (fMRI) data were analyzed by a combination of independent component analysis (ICA) and dual regression to identify potential differences of FC patterns in the DMN, CEN, and SN. Compared to non-smokers, young adult smokers showed enhanced FC of the left posterior cingulate cortex (LPCC), right medial prefrontal cortex (RMPFC) and right precuneus within the DMN network, of the right dorsolateral prefrontal cortex (DLPFC) within the right CEN, and of the left anterior insula (LAI) within the SN. We also found increased FC between the DMN, CEN and key node of the SN (anterior insula, AI). Correlation analysis showed that the increased FC within the networks was significantly correlated with smoking behaviors (pack-years, smoking duration, FTND, first smoking age, and number of cigarettes per day). Our findings may provide additional evidence for conceptualizing the framework of nicotine addiction as a disease of intercommunicating brain networks.


Asunto(s)
Mapeo Encefálico , Fumadores , Encéfalo/diagnóstico por imagen , Corteza Cerebral , Humanos , Imagen por Resonancia Magnética , Adulto Joven
15.
Medicine (Baltimore) ; 99(43): e22789, 2020 Oct 23.
Artículo en Inglés | MEDLINE | ID: mdl-33120794

RESUMEN

RATIONALE: The advent of high-resolution genome arrays including array comparative genomic hybridization (aCGH) has enabled the detection of cryptic submicroscopic deletions flanking translocation breakpoints in up to 20% of the apparently "balanced" structural chromosomal rearrangements in hematological disorders. However, reports of submicroscopic deletions flanking the breakpoints of t(3;5)(q25;q35) are rare and the clinical significance of submicroscopic deletions in t(3;5) has not been explicitly identified. PATIENT CONCERNS: We present a 47-year-old man with acute myeloid leukemia. G-banding analysis identified t(3;5)(q25;q35). DIAGNOSIS: Array CGH-based detection initially confirmed only the deletion of chromosome 3. Further characterization using fluorescence in situ hybridization identified a cryptic submicroscopic deletion including 5' MLF1-3' NPM1 flanking the breakpoint on the derivative chromosome 3. INTERVENTIONS: The patient started "7+3" induction chemotherapy with cytosine arabinoside and daunorubicin, and subsequently received 2 cycles of high-dose intermittent acronym of cytosine arabinoside or cytarabine. OUTCOMES: The patient did not undergo complete remission and died from an infection due to neutropenia. LESSONS: Haploinsufficiency of NPM1 or other deleted genes, including SSR3, may be responsible for the phenotype of t(3;5)(q25;q35)-positive myeloid neoplasms with submicroscopic deletions.


Asunto(s)
Leucemia Mieloide Aguda/genética , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Bandeo Cromosómico , Hibridación Genómica Comparativa , Humanos , Hibridación Fluorescente in Situ , Leucemia Mieloide Aguda/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Nucleofosmina
16.
Adv Mater ; 32(46): e2005353, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33043512

RESUMEN

Power consumption is one of the most challenging bottlenecks for complementary metal-oxide-semiconductor integration. Negative-capacitance field-effect transistors (NC-FETs) offer a promising platform to break the thermionic limit defined by the Boltzmann tyranny and architect energy-efficient devices. However, it is a great challenge to achieving ultralow-subthreshold-swing (SS) (10 mV dec-1 ) and small-hysteresis NC-FETs simultaneously at room temperature, which has only been reported using the hafnium zirconium oxide system. Here, based on a ferroelectric LiNbO3 thin film with great spontaneous polarization, an ultralow-SS NC-FET with small hysteresis is designed. The LiNbO3 NC-FET platform exhibits a record-low SS of 4.97 mV dec-1 with great repeatability due to the superior capacitance matching characteristic as evidenced by the negative differential resistance phenomenon. By modulating the structure and operating parameters (such as channel length (Lch ), drain-sourse bias (Vds ), and gate bias (Vg )) of devices, an optimized SS from ≈40 to ≈10 mV dec-1 and hysteresis from ≈900 to ≈60 mV are achieved simultaneously. The results provide a new potential method for future highly integrated electronic and optical integrated energy-efficient devices.

17.
Mol Cytogenet ; 13: 37, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32863883

RESUMEN

BACKGROUND: Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diagnosis and management of AML patients. Compared with recurrent chromosomal translocations in AML, t(8;16)(p11.2;p13.3) can be found in any age group but is very rare and typically associated with poor prognosis. METHODS: Conventional cytogenetic studies were performed among 1,824 AML patients recorded in our oncology database over the last 20 years. Fluorescence in situ hybridization (FISH) was carried out to detect the translocation fusion. Array comparative genome hybridization (aCGH) was carried out to further characterize the duplication of chromosomes. RESULTS: We identified three AML patients with t(8;16)(p11.2;p13.3) by chromosome analysis. Two of the three patients, who harbored an additional 1q duplication, were detected by FISH and aCGH. aCGH characterized a 46.7 Mb and 49.9 Mb gain in chromosome 1 at band q32.1q44 separately in these two patients. One patient achieved complete remission (CR) but relapsed 3 months later. The other patient never experienced CR and died 2 years after diagnosis. CONCLUSION: A 1q duplication was detected in two of three AML patients with t(8;16)(p11.2;p13.3), suggesting that 1q duplication can be a recurrent event in AML patients with t(8;16). In concert with the findings of previous studies on similar patients, our work suggests that 1q duplication may also be an unfavorable prognostic factor of the disease.

18.
Nanotechnology ; 31(49): 495404, 2020 Dec 04.
Artículo en Inglés | MEDLINE | ID: mdl-32975226

RESUMEN

Due to their good conductivity and catalytic performance, Ni-Mo-based catalysts are well-established for highly effective water splitting. However, the know-how required to fabricate distinct interfaces and electronic structures for metal oxides is still a challenge, and the synergistic effect between metal and metal oxides that enhances electrocatalytic activity is still ambiguous. As described here, by controlling the lithium-induced conversion reaction of metal oxides, metal/metal-oxide composites with plentiful interfaces and prominent electrical interconnections were fabricated, which can boost active sites and accelerate mass transfer during electrocatalytic reactions. As a consequence, the superior catalytic activity of ECT-NiMo/NiMoO4 exhibited a low overpotential of 61 mV at a current density of 10 mA cm-2 for the hydrogen evolution reaction and 331 mV at 100 mA cm-2 for the oxygen evolution reaction. When integrated into a two-electrode system, the ECT-NiMo/NiMoO4 revealed a highly stable and efficient performance in overall water splitting. This work provides a promising approach to enhance the metallicity and electron redistribution of catalysts for numerous water-splitting applications and many other possibilities for energy storage devices.

19.
Front Genet ; 11: 577, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32655619

RESUMEN

The subchromosomal region 1q21.1 is one of the hotspots in the human genome for deletions and reciprocal duplications, owing to the existence of hundreds of segmental duplications. Recurrent deletions and duplications in this region are thought to be causative in patients with variable clinical manifestations. Based on the genomic locations, deletions and duplications at the 1q21.1 locus have been associated with distinguishable syndromes: chromosome 1q21.1 deletion syndrome, chromosome 1q21.1 duplication syndrome, and thrombocytopenia-absent radius (TAR) syndrome, which is partially due to deletions at the proximal 1q21.1 region. We report here diverse, recurrent deletions and duplications at the 1q21.1 locus in 36 patients from a cohort of 5,200 individuals. Among the 36 patients, 18 patients carry 1q21.1 deletions, nine individuals have reciprocal duplications at 1q21.1, two patients share an identical short deletion, and the remaining seven possess variable sizes of duplications at the proximal 1q21.1 region. Furthermore, we provide cytogenetic characterization and detailed clinical features for each patient. Notably, duplications at the proximal 1q21.1 region have not been associated with a defined disorder in publications. However, recurrent duplications at the proximal 1q21.1 region among the seven patients strongly suggested that the variants are likely pathogenic. The common phenotypical features of those disorders are also summarized to facilitate clinical diagnoses and genetic counseling.

20.
Oncol Lett ; 20(2): 1201-1212, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32724360

RESUMEN

Laryngeal squamous cell carcinoma (LSCC) is a genetically complex tumor type and one of the leading causes of cancer-associated disability and mortality. Genetic instability, such as chromosomal instability, is associated with the tumorigenesis of LSCC. Copy number variations (CNVs) have been demonstrated to contribute to the genetic diversity of tumor pathogenesis. Comparative genomic hybridization (CGH) has emerged as a high-throughput genomic technology that facilitates the aggregation of high-resolution data of cancer-associated genomic imbalances. In the present study, a total of 38 primary supraglottic LSCC cases were analyzed by high-resolution array-based CGH (aCGH) to improve the understanding of the genetic alterations in LSCC. Additionally, integration with bioinformatic analysis of microarray expression profiling data from the Gene Expression Omnibus (GEO) database provided a fundamental method for the identification of putative target genes. Genomic CNVs were detected in all cases. The size of net genomic imbalances per case ranged between a loss of 682.3 Mb (~24% of the genome) and a gain of 1,958.6 Mb (~69% of the genome). Recurrent gains included 2pter-q22.1, 3q26.1-qter, 5pter-p12, 7p22.3p14.1, 8p12p11.22, 8q24.13q24.3, 11q13.2q13.4, 12pter-p12.2, 18pter-p11.31 and 20p13p12.1, whereas recurrent losses included 3pter-p21.32, 4q28.1-q35.2, 5q13.2-qter, 9pter-p21.3 and monosomy 13. Gains of 3q26.1-qter were associated with tumor stage, poor differentiation and smoking history. Additionally, through integration with bioinformatic analysis of data from the GEO database, putative target oncogenes, including sex-determining region Y-box 2, eukaryotic translation initiation factor 4 gamma 1, fragile X-related gene 1, disheveled segment polarity protein 3, defective n cullin neddylation 1 domain containing 1, insulin like growth factor 2 mRNA binding protein 2 and CCDC26 long non-coding RNA, and tumor suppressor genes, such as CUB and sushi multiple domains 1, cyclin dependent kinase inhibitor 2A, protocadherin 20, serine peptidase inhibitor Kazal type 5 and Nei like DNA glycosylase 3, were identified in supraglottic LSCC. Supraglottic LSCC is a genetically complex tumor type and aCGH was demonstrated to be effective in the determination of molecular profiles with higher resolution. The present results enable the identification of putative target oncogenes and tumor suppressor gene mapping in supraglottic LSCC.

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