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1.
Nano Lett ; 21(21): 9233-9239, 2021 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-34709835

RESUMO

Understanding quantum tunneling principles over two-dimensional (2D) van der Waals (vdW) ferromagnets at the atomic level is essential and complementary to the fundamental study of low-dimensional strong correlated systems and is critical for the development of magnetic tunneling devices. Here, we demonstrate a local electric-field controlled negative differential conductance (NDC) in 2D vdW ferromagnet Fe3GeTe2 (FGT) by using scanning tunneling microscopy (STM). The STM reveals that NDC shows an atomic position dependence and can be precisely modulated by altering the tunneling junction. The band shift together with electric-field-driven 3d-orbital occupancy modulates the sensitive magnetic anisotropic energy (MAE) in 2D FGT and consequently leads to electric-field-tunable NDC, which is also verified by theoretical simulation. This work realizes the electric-field-driven NDC in 2D ferromagnet FGT, which paves a way to design and develop applications based on 2D vdW magnets.

2.
Nano Lett ; 21(14): 6117-6123, 2021 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-34279960

RESUMO

Heavy Fermion (HF) states emerge in correlated quantum materials due to the intriguing interplay between localized magnetic moments and itinerant electrons but rarely appear in 3d-electron systems due to high itinerancy of d-electrons. Here, an anomalous enhancement of Kondo screening is observed at the Kondo hole of local Fe vacancies in Fe3GeTe2 which is a recently discovered 3d-HF system featuring Kondo lattice and two-dimensional itinerant ferromagnetism. An itinerant Kondo-Ising model is established to reproduce the experimental results and provides insight into the competition between Ising ferromagnetism and Kondo screening. Our work explains the microscopic origin of the d-electron HF states in Fe3GeTe2 and inspires future studies of the enriched quantum many-body effects with Kondo holes.

3.
Nano Lett ; 20(4): 2537-2543, 2020 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-32182079

RESUMO

Two-dimensional (2D) materials with a Lieb lattice host exotic electronic band structures. Such a system does not exist in nature, and it is also difficult to obtain in the laboratory due to its structural instability. Here, we experimentally realized a 2D system composed of a tin overlayer on an aluminum substrate by molecular beam epitaxy. The specific arrangement of Sn atoms on the Al(100) surface, which benefits from favorable interface interactions, forms a stabilized buckled Lieb lattice. Theoretical calculations indicate a partially broken nodal line loop and a topologically nontrivial insulating state with a spin-orbital coupling effect in the band structure of this Lieb lattice. The electronic structure of this system is experimentally characterized by angle-resolved photoemission spectroscopy, in which the hybridized states between topmost Al atoms and Sn atoms are revealed. Our work provides an appealing method for constructing 2D quantum materials based on the Lieb lattice.

4.
Phys Chem Chem Phys ; 18(24): 16202-7, 2016 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-27251068

RESUMO

The transport of fluids at functional interfaces, driven by the external stimuli, is well established. The lossless transport of oil-based fluids under water remains a challenge, however, due to their high stickiness towards the surface. Here, a superhydrophilic and underwater superoleophobic tri-phase water/oil/solid nanoarray surface has been designed and prepared. The unique tri-phase surface exhibits underwater superoleophobic properties with an extremely low stickiness towards oil-based fluids. The magnetic-field-driven manipulation and transport of oil-based magnetic fluids are demonstrated under water, which opens up a new pathway to design flexible and smart devices for the control and transfer of liquid droplets by using tri-phase systems.

5.
Phys Chem Chem Phys ; 16(10): 4544-50, 2014 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-24457982

RESUMO

Mn-doped ZnO-ZnS complex nanocrystals were fabricated through coating of dodecanethiol on Mn-doped ZnO nanocrystals. The relationship between the component of white light emission and the coordination environments of Mn-dopants were experimentally investigated. It was shown that Mn ions mainly formed Mn(3+)O6 octahedra in as prepared Mn-doped ZnO, while the Mn(3+) ions on the surface of ZnO transferred into Mn(2+) ions at the interface between ZnO and ZnS after dodecanethiol coating. The Mn(2+)S4 tetrahedron density and the orange emission intensity increased upon enhancing the dodecanethiol content. These results provide an alternative way to optimize the white emission spectrum from nanocrystals of Mn-doped ZnS-ZnO complex structures through modulation of the coordination environment of Mn ions.

6.
Diagn Interv Radiol ; 2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38654561

RESUMO

PURPOSE: Spontaneous intracerebral hemorrhage (ICH) is the most severe form of stroke. The timely assessment of early hematoma enlargement and its proper treatment are of great significance in curbing the deterioration and improving the prognosis of patients with ICH. This study aimed to develop an automated hybrid approach to predict hematoma expansion in ICH. METHODS: The transfer learning method was applied to build a hybrid model based on a convolutional neural network (CNN) to predict the expansion of hematoma. The model integrated (1) a CNN for automated hematoma segmentation and (2) a CNN-based classifier for hematoma expansion prediction that incorporated both 2-dimensional images and the radiomics features of the 3-dimensional hematoma shape. RESULTS: The radiomics feature module had the highest area under the receiver operating characteristic curve (AUC) of 0.58, a precision of 0, a recall of 0, and an average precision (AP) of 0.26. The ResNet50 and Inception_v3 modules had AUCs of 0.79 and 0.93, a precision of 0.56 and 0.86, a recall of 0.42 and 0.75, and an AP of 0.51 and 0.85, respectively. Radiomic with Inception_v3 and Radiomic with ResNet50 had AUCs of 0.95 and 0.81, a precision of 0.90 and 0.57, a recall of 0.79 and 0.17, and an AP of 0.87 and 0.69, respectively. CONCLUSION: A model using deep learning and radiomics was successfully developed. This model can reliably predict the hematoma expansion of ICH with a fully automated process based on non-contrast computed tomography imaging. Furthermore, the radiomics fusion with the Inception_v3 model had the highest accuracy.

7.
Artigo em Inglês | MEDLINE | ID: mdl-39010677

RESUMO

This study aimed to establish a population pharmacokinetic (PopPK) model using data from 2 clinical trials of zimberelimab, evaluate the pharmacokinetics (PKs) of zimberelimab, explore the feasibility of 360 mg once every 3 weeks (Q3W) and 480 mg once every 4 weeks (Q4W) as alternative dosage regimens, and analyze the exposure-response relationship of the efficacy and safety of zimberelimab for advanced tumors. The PKs of zimberelimab were described using the 2-compartment model with time-dependent nonlinear elimination. The prediction-corrected visual predictive check was used to evaluate the model's predictive value on blood drug concentrations. In total, 2165 PK observations from 321 participants were included. The PopPK model demonstrated a high level of concordance between the observed data and the predicted values, indicative of a robust fit to the PK data of zimberelimab. The PK variables were similar for the 240 mg once every 2 weeks, 360 mg Q3W, and 480 mg Q4W regimens. No covariates significantly affecting the PK variables in the final model were found. The exposure variables of zimberelimab have no obvious correlations with efficacy and safety, and 360 mg Q3W and 480 mg Q4W are worthy of further study. This study establishes a PopPK model and analyzes the exposure-response relationship of zimberelimab, which helps to explore the potential for alternative dosing regimens and offers a foundation for optimizing therapeutic strategies for advanced cancer patients through simulation-based methods.

8.
ACS Appl Mater Interfaces ; 16(3): 4181-4188, 2024 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-38194269

RESUMO

Precise control of charge carrier type and density of two-dimensional (2D) ambipolar semiconductors is the prerequisite for their applications in next-generation integrated circuits and electronic devices. Here, by fabricating a heterointerface between a 2D ambipolar semiconductor (hydrogenated germanene, GeH) and a ferroelectric substrate (PbMg1/3Nb2/3O3-PbTiO3, PMN-PT), fine-tuning of charge carrier type and density of GeH is achieved. Due to ambipolar properties, proper band gap, and high carrier mobility of GeH, by applying the opposite local bias (±8 V), a lateral polarization in GeH is constructed with a change of work function by 0.6 eV. Besides, the built-in polarization in GeH nanoflake could promote the separation of photoexcited electron-hole pairs, which lead to 4 times enhancement of the photoconductivity after poling by 200 V. In addition, a gradient regulation of the work function of GeH from 4.94 to 5.21 eV by adjusting the local substrate polarization is demonstrated, which could be used for data storage at the micrometer size by forming p-n homojunctions. This work of constructing such heterointerfaces provides a pathway for applying 2D ambipolar semiconductors in nonvolatile memory devices, photoelectronic devices, and next-generation integrated circuit.

9.
Adv Sci (Weinh) ; : e2305139, 2023 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-37949811

RESUMO

Photocatalysis and photoelectrocatalysis are promising ways in the utilization of solar energy. To address the low efficiency of photocatalysts and photoelectrodes, in-depth understanding of their catalytic mechanism is in urgent need. Recently, polaron is considered as an influential factor in catalysis, which brings researchers a new approach to modify photocatalysts and photoelectrodes. In this review, brief introduction of polaron is given first, followed by which models and recent experimentally observations of polarons are reviewed. Studies about roles of polarons in photocatalysis and photoelectrocatalysis are listed in order to provide some inspiration in exploring the mechanism and improving the efficiency of photocatalysis and photoelectrocatalysis.

10.
Adv Mater ; 35(41): e2301790, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37497878

RESUMO

Flat bands (FBs) can appear in two-dimensional (2D) geometrically frustrated systems caused by quantum destructive interference (QDI). However, the scarcity of pure 2D frustrated crystal structures in natural materials makes FBs hard to be identified, let alone modulate FBs relating to electronic properties. Here, the experimental evidence of the complete electronic QDI induced FB contributed by the 2D breathing-kagome layers of Nb atoms in Nb3 TeCl7 (NTC) is reported. An identical chemical state and 2D localization characteristics of the Nb breathing-kagome layers are experimentally confirmed, based on which NTC is demonstrated to be a superior concrete candidate for the breathing-kagome tight-binding model. Furthermore, it theoretically establishes the tunable roles of the on-site energy over Nb sites on bandwidth, energy position, and topology of FBs in NTC. This work opens an aveanue to manipulate FB characteristics in these 4d transition-metal-based breathing-kagome materials.

11.
Adv Sci (Weinh) ; : e2303483, 2023 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-37840399

RESUMO

Dispersionless flat bands (FBs) in momentum space, given rise to electron destructive interference in frustrated lattices, offer opportunities to enhance electronic correlations and host exotic many-body phenomena, such as Wigner crystal, fractional quantum hall state, and superconductivity. Despite successes in theory, great challenges remain in experimentally realizing FBs in frustrated lattices due to thermodynamically structural instability. Here, the observation of electronic FB in a potassium distorted colouring triangle (DCT) lattice is reported, which is supported on a blue phosphorene-gold network. It is verified that the interaction between potassium and the underlayer dominates and stabilizes the frustrated structures. Two-dimensional electron gas is modulated by the DCT lattice, and in turn results in a FB dispersion due to destructive quantum interferences. The FB exhibits suppressed bandwidth with high density of states, which is directly observed by scanning tunneling microscopy and confirmed by the first-principles calculation. This work demonstrates that DCT lattice is a promising platform to study FB physics and explore exotic phenomena of correlation and topological matters.

12.
BMC Med Genomics ; 15(1): 220, 2022 10 21.
Artigo em Inglês | MEDLINE | ID: mdl-36280868

RESUMO

BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL; OMIM# 615381) is a rare autosomal dominant disorder, with only a few reported cases worldwide. Herein, we describe the clinical features and underlying molecular etiology of MDPL syndrome in an 8-year-old Chinese patient. METHODS: We performed otological, endocrine, ultrasound, and radiological examinations, as well as genetic testing. Additionally, the literature concerning MDPL was reviewed to do a retrospective analysis of the pathogenesis, genotype-phenotype correlation, and clinical management. RESULTS: The proband was diagnosed with MDPL, presenting with mandibular hypoplasia, a characteristic facial appearance, lipodystrophy, and sensorineural hearing loss (SNHL). Whole-exome sequencing and bioinformatics analysis revealed a de novo missense variant in the POLD1 gene, NM_002691.4:c.3185A>G (NP_002682.2:p.(Gln1062Arg)). The retrospective analysis showed wide variation in the MDPL phenotype, but the most frequent features included mandibular hypoplasia, characteristic facial appearance, lipodystrophy, and SNHL. CONCLUSIONS: This study supplements the mutational spectrum of POLD1. The genetic analysis contributes to the diagnosis of syndromic deafness, and it has a vital role in clinical management and future genetic consultation.


Assuntos
Surdez , Lipodistrofia , Humanos , China , Surdez/genética , DNA Polimerase III/genética , Fácies , Lipodistrofia/genética , Lipodistrofia/complicações , Lipodistrofia/patologia , Mutação , Linhagem , Fenótipo , Estudos Retrospectivos , Síndrome , Criança
13.
Prev Vet Med ; 198: 105532, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34844124

RESUMO

In the Qinghai-Tibet Plateau of China, the yak is an animal of particular economic interest, which provides protein and income for herders in daily life. Brucellosis is a bacterial disease that can infect humans and animals, including yaks. It can damage the yak reproductive system, causing miscarriage and orchitis. At the same time, brucellosis threatens the health of herders. We performed this meta-analysis using R software to explore the combined prevalence and risk factors of brucellosis in yak in China. Variability was assessed by the I2 statistic and Cochran Q statistic. We identified 52 publications of related research from four databases (Wanfang Data, VIP Chinese Journal Database, China National Knowledge Infrastructure, and of PubMed). The pooled prevalence of yak brucellosis was 8.39 %. Prevalence was highest in Southwestern China (11.1 %). The point estimate of brucellosis in yak from 2012 to 2016 was the highest (11.47 %). The point estimate of age ≤ 12 months (1.44 %) was lower than that of age > 12 months (15.6 %). This study shows that yak brucellosis is serious, and its incidence is higher than before 2012. We recommend carrying out large-scale yak brucellosis investigations in Western China and conducting comprehensive testing planning. The detection of brucellosis in adult animals should be strengthened to reduce the economic loss caused by brucellosis to herders and to improve public health.


Assuntos
Brucelose , Doenças dos Bovinos , Animais , Brucelose/epidemiologia , Brucelose/veterinária , Bovinos , Doenças dos Bovinos/epidemiologia , China/epidemiologia , Incidência , Masculino , Prevalência , Tibet
14.
Front Vet Sci ; 9: 944282, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36246331

RESUMO

Leptospirosis is an acute infectious disease caused by pathogenic bacteria from the genus Leptospira. The disease is widely distributed throughout China, causing harm to human and animal health. Murine may naturally carry a variety of pathogenic Leptospira, thus being important sources of infection by humans and livestock. The aim of this study was to assess and analyse the prevalence of Leptospira and its risk factors in murine. We collected 46 publications published between inception and 2022 through China Knowledge Network (CNKI), VIP Chinese Journal Database, Wanfang Database, PubMed, and ScienceDirect. In these studies, a total of 54,051 murine in 5 regions of China were investigated, and the prevalence of leptospirosis ranged from 1.11 to 35.29%. The prevalence of murine leptospirosis in south China was the highest, at 20.13%, and the lowest in northeast China, at 1.11% (P < 0.05). The prevalence of leptospirosis in male murine was 21.38%, which was significantly higher than that in females (17.07%; P < 0.05). Results according to detection method subgroup showed that the prevalence from serological testing was 15.94%, which was significantly higher than that of etiology and molecular biology methods (P < 0.01). In the sample subgroup, the positive rate of serum samples was 15.30%, which was significantly higher than that of tissue samples, at 7.97%. In addition, the influence of different geographical factors on prevalence was analyzed, indicating that the Yangtze River Basin was a high-incidence area for leptospirosis. The study showed that Leptospira were ubiquitous throughout the country, and factors such as environment, temperature and landform affect the murine distribution and their bacteria carrying rate. We suggest strengthening the continuous monitoring of leptospirosis and taking effective and comprehensive measures such as reducing water contact, vaccinating in high-incidence seasons, and avoiding human contamination caused by water pollution and contact with infected murine.

15.
Am J Transl Res ; 13(7): 7829-7838, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34377260

RESUMO

PURPOSE: The purpose of the study was to analyze the ultrasound findings and imaging features of patients with special types of ectopic pregnancy. METHODS: The ultrasound findings of 40 patients with special types of ectopic pregnancy in our hospital were retrospectively analyzed. RESULTS: Among 40 patients, there were 17 cases of corneal pregnancy, 12 cases of cervical pregnancy, 8 cases of uterine scar pregnancy, and 3 cases of incomplete abortion confirmed by operation and pathology. The accuracy rate of ultrasound findings in the diagnosis of 40 special types of ectopic pregnancy was 77.50%, with a consistency rate of 70.59% for cornual pregnancy, 83.33% for cervical pregnancy, 100.00% for cesarean scar pregnancy and 33.33% for incomplete abortion. There were 9 misdiagnoses in ultrasound diagnosis, including 5 misdiagnoses of angular pregnancy (misdiagnosed as 4 cases of tubal interstitial pregnancy and 1 case of trophoblastic tumor), 2 misdiagnoses of cervical pregnancy (misdiagnosed as incomplete abortion), and 2 misdiagnoses of incomplete abortion (misdiagnosed as isthmus pregnancy). There was no misdiagnosed case of cesarean scar pregnancy. CONCLUSION: Ultrasound findings have some value in the diagnosis of specific types of ectopic pregnancy and can help identify different types of ectopic pregnancy. Transabdominal ultrasound and transvaginal ultrasound should be clinically combined to obtain more information for diagnosis.

16.
Neural Netw ; 142: 105-118, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33984734

RESUMO

In this paper, we develop a new classification method for manifold-valued data in the framework of probabilistic learning vector quantization. In many classification scenarios, the data can be naturally represented by symmetric positive definite matrices, which are inherently points that live on a curved Riemannian manifold. Due to the non-Euclidean geometry of Riemannian manifolds, traditional Euclidean machine learning algorithms yield poor results on such data. In this paper, we generalize the probabilistic learning vector quantization algorithm for data points living on the manifold of symmetric positive definite matrices equipped with Riemannian natural metric (affine-invariant metric). By exploiting the induced Riemannian distance, we derive the probabilistic learning Riemannian space quantization algorithm, obtaining the learning rule through Riemannian gradient descent. Empirical investigations on synthetic data, image data , and motor imagery electroencephalogram (EEG) data demonstrate the superior performance of the proposed method.


Assuntos
Algoritmos , Aprendizado de Máquina , Eletroencefalografia
17.
Front Genet ; 12: 765433, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34868248

RESUMO

Background: Branchio-oto-renal syndrome (BOR) and branchio-oto syndrome (BOS) are rare autosomal dominant disorders defined by varying combinations of branchial, otic, and renal anomalies. Here, we characterized the clinical features and genetic etiology of BOR/BOS in several Chinese families and then explored the genotypes and phenotypes of BOR/BOS-related genes, as well as the outcomes of auditory rehabilitation in different modalities. Materials and Methods: Probands and all affected family members underwent detailed clinical examinations. Their DNA was subjected to whole-exome sequencing to explore the underlying molecular etiology of BOR/BOS; candidate variants were validated using Sanger sequencing and interpreted in accordance with the American College of Medical Genetics guidelines. In addition, a literature review concerning EYA1 and SIX1 alterations was performed to explore the genotypes and phenotypes of BOR/BOS-related genes. Results: Genetic testing identified the novel deletion (c.1425delC, p(Asp476Thrfs*4); NM_000,503.6), a nonsense variant (c.889C > T, p(Arg297*)), and two splicing variants in the EYA1 gene (c.1050+1G > T and c.1140+1G > A); it also identified one novel missense variant in the SIX1 gene (c.316G > A, p(Val106Met); NM_005,982.4). All cases exhibited a degree of phenotypic variability between or within families. Middle ear surgeries for improving bone-conduction component hearing loss had unsuccessful outcomes; cochlear implantation (CI) contributed to hearing gains. Conclusion: This is the first report of BOR/BOS caused by the SIX1 variant in China. Our findings increase the numbers of known EYA1 and SIX1 variants. They also emphasize the usefulness of genetic testing in the diagnosis and prevention of BOR/BOS while demonstrating that CI for auditory rehabilitation is a feasible option in some BOR/BOS patients.

18.
J Phys Condens Matter ; 34(7)2021 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-34757949

RESUMO

Heterostructures of two-dimensional (2D) layered materials with selective compositions play an important role in creating novel functionalities. Effective interface coupling between 2D ferromagnet and electronic materials would enable the generation of exotic physical phenomena caused by intrinsic symmetry breaking and proximity effect at interfaces. Here, epitaxial growth of bilayer Bi(110) on 2D ferromagnetic Fe3GeTe2(FGT) with large magnetic anisotropy has been reported. Bilayer Bi(110) islands are found to extend along fixed lattice directions of FGT. The six preferred orientations could be divided into two groups of three-fold symmetry axes with the difference approximately to 26°. Moreover, dI/dVmeasurements confirm the existence of interface coupling between bilayer Bi(110) and FGT. A variation of the energy gap at the edges of bilayer Bi(110) is also observed which is modulated by the interface coupling strengths associated with its buckled atomic structure. This system provides a good platform for further study of the exotic electronic properties of epitaxial Bi(110) on 2D ferromagnetic substrate and promotes potential applications in the field of spin devices.

19.
Medicine (Baltimore) ; 100(13): e25116, 2021 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-33787594

RESUMO

ABSTRACT: It has been reported that some male breast cancer patients may refuse the recommended surgery, but the incidence rate in the United States is not clear. The purpose of this study was to identify the incidence, trends, risk factors, and eventual survival outcomes associated with the rejection of such cancer-directed surgery.We collected data on 5860 patients with male breast cancer (MBC) from the Surveillance, Epidemiology, and End Results database, including 50 patients refusing surgery as recommended. Kaplan-Meier survival analysis and Cox proportional hazard regression were used to identify the effects of refusing surgery on cancer-specific survival (CSS) and overall survival (OS). The association between acceptance or rejection of surgery and mortality were estimated by nested Cox proportional hazards regression models with adjustment for age, race, clinical characteristics, and radiation.Of the 5860 patients identified, 50 (0.9%) refused surgery. Old age (≥65: hazard ratio [HR]: 3.056, 95% confidence interval [CI]: 1.738-5.374, P < .0001), higher AJCC stage (III: HR: 3.283, 95% CI: 2.134-5.050, P < .0001, IV: HR: 14.237, 95% CI: 8.367-24.226, P < .0001), progesterone receptor status (negative: HR: 1.633, 95% CI: 1.007-2.648, P = .047) were considered risk factors. Compared with the surgery group, the refusal group was associated with a poorer prognosis in both OS and CSS (χ2 = 94.81, P < .001, χ2 = 140.4, P < .001). Moreover, significant differences were also observed in OS and CSS among 1:3 matched groups (P = .0002, P < .001).Compared with the patients undergoing surgery, the patients who refused the cancer-directed surgery had poor prognosis in the total survival period, particularly in stage II and III. The survival benefit for undergoing surgery remained even after adjustment, which indicates the importance of surgical treatment before an advanced stage for male breast cancer patients.


Assuntos
Neoplasias da Mama Masculina/mortalidade , Neoplasias da Mama Masculina/cirurgia , Mastectomia/estatística & dados numéricos , Recusa do Paciente ao Tratamento/estatística & dados numéricos , Idoso , Humanos , Incidência , Estimativa de Kaplan-Meier , Masculino , Mastectomia/psicologia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Modelos de Riscos Proporcionais , Fatores de Risco , Estados Unidos/epidemiologia
20.
Biomed Res Int ; 2020: 8843539, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33426078

RESUMO

OBJECTIVE: To analyze the phenotypic features and pathogenic variants of three unrelated families presenting with nonsyndromic auditory neuropathy spectrum disorder (ANSD). METHODS: Three recruited families that were affected by congenital deafness were clinically evaluated, including a detailed family history and audiological and radiological examination. The peripheral blood of all patients and their parents was collected for DNA extraction, and then, the exonic and flanking regions were enriched and sequenced using targeted capture and high-throughput sequencing technology. Bioinformatics analyses and the Sanger sequencing were carried out to screen and validate candidate pathogenic variants. The pathogenicity of candidate variants was evaluated by an approach that was based on the standards and guidelines for interpreting genetic variants as proposed by the American College of Medical Genetics and Genomics (ACMG). RESULTS: Four patients in three families were diagnosed as nonsyndromic ANSD, and all exhibited OTOF gene mutations. Among them, two individuals in family 1 (i.e., fam 1-II-2 and fam 1-II-3) carried homozygous variants c.[2688del];[2688del] (NM_194248.3). Two individuals from family 2 (fam 2-II-1) and family 3 (fam 3-II-4) carried compound heterozygous variants c.[4960G>A];[1469C>G] and c.[2675A>G];[2977_2978del], respectively. CONCLUSIONS: Three unrelated pedigrees with ANSD were caused by pathogenic variants in the OTOF gene. Five mutations were found and included c.2688del, c.2675A>G, c.2977_2978del, c.4960G>A, and c.1469C>G, of which the first two are novel and expanded mutational spectrum of the OTOF gene, thus having important implications for genetic counseling of the family.


Assuntos
Surdez , Perda Auditiva Central , Mutação/genética , Pré-Escolar , Análise Mutacional de DNA , Surdez/genética , Surdez/patologia , Surdez/fisiopatologia , Feminino , Perda Auditiva Central/genética , Perda Auditiva Central/patologia , Perda Auditiva Central/fisiopatologia , Humanos , Masculino , Proteínas de Membrana/genética , Sequenciamento do Exoma
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