Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 19 de 19
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Opt Express ; 31(20): 33132-33140, 2023 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-37859100

RESUMO

The efficiency of energy coupled to plasma during femtosecond (fs) laser filamentation plays a decisive role in a variety of filament applications such as remote fabrication and spectroscopy. However, the energy deposition characterization in the fs laser filament formed by a telescope, which provides an efficient way to extend the filament distance, has not yet been revealed. In the present study, we show that when the distance between the two lenses in a telescope changes, i.e., the effective focal length changes, there exists an optimal plateau energy deposition region in which the energy deposited into the filament per unit length called the average lineic energy deposition (ALED) remains at high levels, exhibiting a remarkable difference from the monotonic change in a single-lens focusing system. As a proof of principle, we examined the influence of the energy deposition on the ignition of a lean methane/air mixture, and found that the use of the telescope can efficiently extend the ignition distance when compared with a single-lens focusing system under the same incident laser energy condition. Our results may help understand the energy deposition behaviors in a variety of telescopic filaments and provide more options to manipulating laser ignition at a desired distance.

2.
J Sci Food Agric ; 103(14): 6861-6870, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37288717

RESUMO

BACKGROUND: Alternaria can infest pears to produce metabolites, which can contaminate pears and their processed products. Pear paste, one of the most important pear-based products, is popular among Chinese consumers especially for its cough relieving and phlegm removal properties. Although people are concerned about the risk of Alternaria toxins in many agro-foods and their products, little is known about the toxins in pear paste. RESULTS: A method was developed for the determination of tenuazonic acid, alternariol, alternariol menomethyl ether, altenuene and tentoxin in pear paste by ultra-performance liquid chromatography tandem mass spectrometry with saturated sodium sulphate dissolution and acidified acetonitrile extraction. The mean recoveries of the five toxins were 75.3-113.8% with relative standard deviations of 2.8-12.2% at spiked levels of 1.0-100 µg kg-1 . Alternaria toxins were detected in 53 out of 76 samples, with a detection rate of 71.4%. Tenuazonic acid (67.1%), alternariol (35.5%), tentoxin (23.7%) and alternariol monomethyl ether (7.9%) were detected in all samples at concentrations of < limit of quantification (LOQ)-105.0 µg kg-1 , < LOQ-32.1 µg kg-1 , < LOQ-74.2 µg kg-1 and < LOQ-15.1 µg kg-1 , respectively. Altenuene was never found in pear paste samples. Tenuazonic acid, alternariol, tentoxin and alternariol menomethyl ether should be focused on due to their toxicity and detection rates. CONCLUSION: To the best of our knowledge, this is the first report on the detection method and residue levels of Alternaria toxins in pear paste. The proposed method and research data can provide technical support for the Chinese government to continuously monitor and control Alternaria toxins in pear paste, especially tenuazonic acid. It can also provide a useful reference for related researchers. © 2023 Society of Chemical Industry.


Assuntos
Micotoxinas , Pyrus , Humanos , Cromatografia Líquida , Espectrometria de Massas em Tandem/métodos , Ácido Tenuazônico/análise , Micotoxinas/metabolismo , Pyrus/metabolismo , Cromatografia Líquida de Alta Pressão/métodos , Alternaria/metabolismo , Solubilidade , Lactonas/análise , Extração Líquido-Líquido , Éteres/análise , Éteres/metabolismo , Contaminação de Alimentos/análise
3.
J Foot Ankle Surg ; 62(3): 437-443, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36404256

RESUMO

Comminuted fractures of the calcaneus are relatively common and generally require surgical treatment. The quality of fracture reduction is crucial. The extended lateral approach (ELA) can better expose the fracture end and facilitate the reduction of the fracture, while it has a higher risk of postoperative skin complications. In this study, the ELA was adopted, and the calcaneal comminuted fractures were treated with circular external fixator assisted reduction to achieve the purpose of good reduction of the fracture and fewer skin complications. During 64 months, a total of 61 cases of unilateral calcaneal fractures were treated by the same surgeon and followed up for 19.28 ± 5.28 months. During the operation, a circular external fixator was employed to fix the midfoot and the distal end of the tibia, and the calcaneal tubercle; then, the calcaneal tubercle was distracted to restore the 3-dimensional structure of the calcaneus. The ELA was utilized to reduce the articular surface fracture. The fracture was fixated with a locking plate. Postoperative radiographs were regularly reviewed. Meanwhile, Böhler's angle and Gissane's angle were measured. Visual analogue scale and American Orthopedic Foot and Ankle Society Score assessments were performed at the final follow-up. All fractures healed. The mean preoperative Böhler's angle was 9.3 ± 10.1 degrees; the mean Gissane's angle was 110.5 ± 14.7 degrees; the immediate postoperative mean Böhler's angle was 31.3 ± 5.5 degrees; mean Gissane's angle was 110.9 ± 5.9 degrees. Local superficial necrosis of surgical incision occurred in 2 cases, which healed well after dressing changes. Skin necrosis appeared in 1 case, where debridement and local flap transfer were performed. At the final follow-up, the mean visual analogue scale score was 1.48 ± 1.30, and the mean American Orthopedic Foot and Ankle Society Score was 90.16 ± 7.19. The ELA combined with a circular external fixator to assist in the reduction of calcaneal fractures achieved good reduction quality and effectively reduced postoperative complications.


Assuntos
Calcâneo , Traumatismos do Pé , Fraturas Ósseas , Fraturas Cominutivas , Fraturas Intra-Articulares , Humanos , Calcâneo/cirurgia , Fraturas Cominutivas/diagnóstico por imagem , Fraturas Cominutivas/cirurgia , Fixação Interna de Fraturas/métodos , Resultado do Tratamento , Fraturas Ósseas/cirurgia , Fraturas Intra-Articulares/diagnóstico por imagem , Fraturas Intra-Articulares/cirurgia , Fixadores Externos , Traumatismos do Pé/cirurgia , Estudos Retrospectivos
4.
Sensors (Basel) ; 22(22)2022 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-36433371

RESUMO

Femtosecond filament-induced breakdown spectroscopy (FIBS) is an efficient approach in remote and in situ detection of a variety of trace elements, but it was recently discovered that the FIBS of water is strongly dependent on the large-bandgap semiconductor property of water, making the FIBS signals sensitive to laser ionization mechanisms. Here, we show that the sensitivity of the FIBS technique in monitoring metal elements in water can be efficiently improved by using chirped femtosecond laser pulses, but an asymmetric enhancement of the FIBS intensity is observed for the negatively and positively chirped pulses. We attribute the asymmetric enhancement to their different ionization rates of water, in which the energy of the photons participating in the ionization process in the front part of the negatively chirped pulse is higher than that in the positively chirped pulse. By optimizing the pulse chirp, we show that the limit of detection of the FIBS technique for metal elements in water, e.g., aluminum, can reach to the sub-ppm level, which is about one order of magnitude better than that by the transform-limited pulse. We further examine the FIBS spectra of several representative water samples including commercial mineral water, tap water, and lake water taken from two different environmental zones, i.e., a national park and a downtown business district (Changchun, China), from which remarkably different concentrations of Ca, Na, and K elements of these samples are obtained. Our results provide a possibility of using FIBS for direct and fast metal elemental analysis of water in different field environments.


Assuntos
Oligoelementos , Água , Lasers , Análise Espectral , Semicondutores
5.
Opt Express ; 30(15): 26182-26191, 2022 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-36236813

RESUMO

Soot nanoparticles result from incomplete combustion of fossil fuels, and have been exhibited, when released into the atmosphere, to be detrimental to air quality and human health. However, because of the inert and non-luminescent properties, probing the dynamics of soot in situ is still a challenge. Here we report a strong near-infrared laser pump and multi-color Rayleigh scattering probe approach to reveal soot dynamics in situ in a n-pentanol/air laminar diffusion flame at femtosecond time resolution. A size-dependent dynamical process of the pump-laser-induced soot swelling at femtosecond time scale and subsequent shrinking back to its original size at picosecond time scale is observed, in which both the swelling rise time and the shrinking decay time increase monotonically as the initial sizes of soot nanoparticles become larger. By characterizing the evolution time and intensity of the multi-color scattered probe light, the spatial distributions of different sizes of soot particles from the inception to the burnout regions of the flame are mapped, which provide useful information on exploring the formation and growth mechanisms of soot particles in flames.

6.
PeerJ ; 10: e13274, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35462766

RESUMO

Investigating the phosphorus (P) sources, pathways, and final sinks are important to reduce P pollution and improve P management. In this study, substance flow analysis (SFA) was performed for P flow analysis from 1995 to 2016 in different crops of Dongying District, a core region of the alluvial delta at the estuary of the Yellow River. The results showed that P input steadily increased from 1.48 × 104 t in 1995 to 2.16 × 104 t in 2007, and then decreased from 1.90 × 104 t in 2010 to 1.78 × 104 t in 2016. Chemical fertilizers made the highest contribution to P input. The cotton with the highest P load was on the top of P load risk ranks. More importantly, this study applied the Partial Least Squares Path Modeling (PLS-PM) model for P flow analysis and established the numerical relationship between the variables (including fertilizers, straws return-to-field, harvested grains, discarded straw, and P erosion and runoff), P use efficiency (PUE) and P load. The analysis revealed that fertilizer and crop production are the key factors affecting the PUE. Therefore, optimizing the use of P-fertilizer whilst maintaining yields can be an effective strategy to improve the local region PUE.


Assuntos
Agricultura , Fósforo , Agricultura/métodos , Fósforo/análise , Fertilizantes/análise , Produção Agrícola/métodos , China , Produtos Agrícolas/metabolismo
7.
Opt Lett ; 46(14): 3404-3407, 2021 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-34264224

RESUMO

Cavity-free air lasing offers a promising route towards the realization of atmospheric lasers for various applications such as remote sensing and standoff spectroscopy; however, achieving efficient generation and control of air lasing in ambient air is still a challenge. Here we show the experimental realization of a giant lasing enhancement by three to four orders of magnitude in ambient air for the self-seeded N2+ lasing at 428 nm, assigned to the B2Σu+(ν'=0) and X2Σg+(ν''=1) emission, by modulating the spatiotemporal overlap of ultrashort near-infrared control-pump pulses in a filamentary plasma grating; meanwhile, the spontaneous emission from the same transition is only enhanced by three to four times. We find that this enhancement is sensitive to the relative polarization and interference time of the two pulses, and reveal that the formation of the plasma grating induces different population variations in the B2Σu+(ν'=0) and X2Σg+(ν''=1) levels, resulting in an enormous population inversion between the two levels, thereby a higher gain for the giant enhancement of N2+ lasing in ambient air.

8.
Light Sci Appl ; 10(1): 49, 2021 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-33674550

RESUMO

Laser ignition (LI) allows for precise manipulation of ignition timing and location and is promising for green combustion of automobile and rocket engines and aero-turbines under lean-fuel conditions with improved emission efficiency; however, achieving completely effective and reliable ignition is still a challenge. Here, we report the realization of igniting a lean methane/air mixture with a 100% success rate by an ultrashort femtosecond laser, which has long been regarded as an unsuitable fuel ignition source. We demonstrate that the minimum ignition energy can decrease to the sub-mJ level depending on the laser filamentation formation, and reveal that the resultant early OH radical yield significantly increases as the laser energy reaches the ignition threshold, showing a clear boundary for misfire and fire cases. Potential mechanisms for robust ultrashort LI are the filamentation-induced heating effect followed by exothermal chemical reactions, in combination with the line ignition effect along the filament. Our results pave the way toward robust and efficient ignition of lean-fuel engines by ultrashort-pulsed lasers.

9.
J Foot Ankle Surg ; 60(1): 42-46, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33218864

RESUMO

The purpose of this retrospective study was to report on percutaneous reduction and fixation for the treatment of fractures of metatarsal shaft. Between March 2015 and October 2017, 29 patients (37 fractures of metatarsal shaft) were treated using a cemented Kirschner wire (K-wire) frame. The accuracy of reduction of the fragments was assessed as anatomic (0 to 8 points), good (9 to 11 points), fair (12 to 15 points), or poor (>15 points). The Maryland foot score was used to assess pain and functional outcomes. All fractures were reduced using percutaneous techniques. Anatomic reduction was achieved in 31 metatarsal fractures (84%), and good reduction was achieved in 6 (16%). The average bone healing time was 7 weeks (range, 4 to 16). Pin tract infection was noted in 2 metatarsal bones, which healed with pin site care. The mean cost of the cemented K-wire frame was US$335 (range, $283 to $385) per patient. Based on the Maryland foot score, there were 26 excellent results (90%) and 3 good results (10%). The cemented K-wire frame is a useful external fixator and can be an alternative for treating fractures of metatarsal shaft, especially when open surgeries are a major concern owing to severely damaged soft-tissue envelope. The system is cheap and easy to apply and provides rigid fixation, resulting in good function of the foot.


Assuntos
Fraturas Ósseas , Ossos do Metatarso , Fios Ortopédicos , Fixadores Externos , Fixação Interna de Fraturas , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/cirurgia , Humanos , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
10.
Opt Express ; 28(16): 23274-23283, 2020 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-32752326

RESUMO

We experimentally demonstrate an asymmetric enhancement of the N2+ lasing at 391 nm for the transition between the B2Σu+ (v = 0) and X2Σg+ (v" = 0) states in an intense laser field with the ellipticity, ε, modulated by a 7-order quarter-wave plate (7-QWP). It is found that when the 7-QWP is rotated from α = 0 to 90°, where α is the angle between the polarization direction of the input laser and the slow axis of the 7-QWP, the intensity of the 391-nm lasing is optimized at ε ∼ 0.3 with α∼ 10°-20° and 70°-80° respectively, but the optimization intensity at α∼ 10°-20° is about 4 times smaller than that at α∼ 70°-80°. We interpret the asymmetric enhancement based on a post-ionization coupling model, in which the birefringence of the 7-QWP induces an opposite change in the relative amplitudes of the ordinary (Eo) and extraordinary (Ee) electric components under the two conditions, so that the same temporal separation of Eo and Ee leads to a remarkably different coupling strength for the population transfer from the X2Σg+ (v "=0) to A2Πu (v '=2) states.

11.
Glob Chall ; 3(1): 1800070, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31565357

RESUMO

Water is the major natural resource that enables life on our planet. Rapid detection of water pollution that occurs due to both human activity and natural cataclysms is imperative for environmental protection. Analytical chemistry-based techniques are generally not suitable for rapid monitoring because they involve collection of water samples and analysis in a laboratory. Laser-based approaches such as laser-induced breakdown spectroscopy (LIBS) may offer a powerful alternative, yet conventional LIBS relies on the use of tightly focused laser beams, requiring a stable air-water interface in a controlled environment. Reported here is a proof-of-principle, quantitative, simultaneous measurement of several representative heavy-metal contaminants in water, at ppm-level concentrations, using ultraintense femtosecond laser pulses propagating in air in the filamentation regime. This approach is straightforwardly extendable to kilometer-scale standoff distances, under adverse atmospheric conditions and is insensitive to the movements of the water surface due to the topography and water waves.

12.
Artigo em Inglês | MEDLINE | ID: mdl-31428054

RESUMO

Context: The DUOX/DUOXA systems play a key role in H2O2 generation in thyroid cells, which is required for iodine organification and thyroid hormone synthesis. DUOX2/DUOXA2 defects can cause congenital hypothyroidism (CH), but it is unknown whether DUOX1/DUOXA1 mutations can also cause CH. Objective: We aimed to identify DUOX1/DUOXA1 mutations and explore their role in the development of CH by investigating their functional impacts on H2O2 generation. Patients and Methods: Forty-three children with CH with goiter were enrolled, in whom all exons and flanking intronic regions of DUOX1/DUOXA1 were directly sequenced. We characterized the functional effects of identified mutations on the expression of DUOX1 and DUOXA1 and H2O2 generation. Results: We identified a heterozygous DUOX1 missense mutation (G > A base substitution at nucleotide 3920 in exon 31) that changed a highly conserved arginine to glutamine at residual 1307 (p.R1307Q) in patient 1. A heterozygous-missense mutation (c.166 C>T; p.R56W) was identified in DUOXA1 in patient 2. Functional studies demonstrated that both p.R1307Q mutant or p.R56W mutant decreased the DUOX1 expression at mRNA and protein levels, with a corresponding impairment in H2O2 generation (P < 0.01). The results also showed that intact DUOXA1 was required for full activity of DUOX1 and H2O2 generation. Conclusions: We have identified two heterozygous missense mutations in DUOX1 and DUOXA1 in two patients that can cause CH through disrupting the coordination of DUOX1 and DUOXA1 in the generation of H2O2. This study for the first time demonstrates that the DUOX1/DUOXA1 system, if genetically defective, can cause CH.

13.
Phys Rev Lett ; 122(1): 013202, 2019 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-31012701

RESUMO

We show that the intensity of self-seeded N_{2}^{+} lasing at 391 nm, assigned to the B^{2}Σ_{u}^{+}(v^{'}=0)→X^{2}Σ_{g}^{+}(v^{''}=0) emission, is enhanced by 2 orders of magnitude by modulating in time the polarization of an intense ultrashort near-IR (40 fs, 800 nm) laser pulse with which N_{2} is irradiated. We find that this dramatic enhancement of the 391 nm lasing is sensitive to the temporal variation of the polarization state within the laser pulse while the intensity of the spontaneous fluorescence emission at 391 nm is kept constant when the polarization state varies. We conclude that a postionization multiple-state coupling, through which the population can be transferred from the X^{2}Σ_{g}^{+} state of N_{2}^{+} to the first electronically excited A^{2}Π_{u} state, leads to the depletion of the population in the X^{2}Σ_{g}^{+} state, and consequently, to the population inversion between the X^{2}Σ_{g}^{+} state and the B^{2}Σ_{u}^{+} state.

14.
J Cell Biochem ; 119(11): 9474-9482, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30074255

RESUMO

Thyroid dysgenesis (TD) accounts for most cases of congenital hypothyroidism. Although mutations in thyroid hormone receptor ß (THRB) have been identified in TD, the mutational spectrum of THRB and phenotype-genotype correlations have not been fully elucidated. In this study, we aimed to find mutations of THRB, examine the functions of these mutations, and attempt to elucidate the relationship between THRB and TD. Thus, we screened the exons of THRB in 280 patients with TD and 200 normal subjects in samples collected from China. We performed cell morphology assays, MTT assays, flow cytometric analyses, and a quantitative reverse-transcription polymerase chain reaction in human thyroid follicular epithelial cells (Nthy-ori cell line) to examine the impact of THRB mutations. In two unrelated patients, two novel missense mutations, c.76G>A (p.D26N) and c.107G>A (p.C36Y), were identified in THRB. Functional studies suggested that the C36Y mutant caused changes in morphology, inhibiting cell proliferation and promoting apoptosis in a human thyroid cell line. In addition, we found that messenger RNA expressions of thyroglobulin (TG) and the Na+ /I- symporter (NIS) were decreased in a time-dependent manner in mutant THRB compared with the wild type. To our knowledge, this is the first study to document the prevalence of THRB mutations and the genotype-phenotype spectrum of TD in a Chinese population. We characterized the function of a C36Y mutation, which reduced cell proliferation and increased cell death in thyroid epithelial cells. This study provides further evidence for genetic THRB defects and disease mechanisms in TD.


Assuntos
Análise Mutacional de DNA/métodos , Receptores beta dos Hormônios Tireóideos/genética , Criança , Pré-Escolar , Hipotireoidismo Congênito/genética , Feminino , Humanos , Masculino , Mutação/genética , Simportadores/genética , Simportadores/metabolismo , Tireoglobulina/genética , Tireoglobulina/metabolismo , Disgenesia da Tireoide/genética , Glândula Tireoide/metabolismo , Glândula Tireoide/patologia
15.
Opt Express ; 26(7): 8515-8521, 2018 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-29715817

RESUMO

We demonstrate the generation of filament array with orthogonal polarizations in air by using specifically designed wedge-type birefringent quartz plates. Experimental results show that the number of the generated filaments can be expressed as N = 2n wherenis the number of quartz plates inserted in the laser propagation path. By manipulating the optic axis of the quartz plates with respect to the polarization direction of the input laser pulse, the generated filaments can be separated into two parts with the polarization directions perpendicular with each other. The separation distance between the adjacent filaments is found to be linearly dependent on the focal length of external focusing lens. Our results provide a simple and efficient way to generate regular and reproductive femtosecond filament array in air.

16.
Opt Lett ; 43(3): 615-618, 2018 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-29400854

RESUMO

Coherent radiation in the ultraviolent (UV) range has high potential applicability to the diagnosis of the formation processes of soot in combustion because of the high scattering efficiency in the UV wavelength region, even though the UV light is lost largely by the absorption within the combustion flames. We show that the third harmonic (TH) of a Ti:sapphire 800 nm femtosecond laser is generated in a laser-induced filament in a combustion flame and that the conversion efficiency of the TH varies sensitively by the ellipticity of the driver laser pulse but does not vary so much by the choice of alkanol species introduced as fuel for the combustion flames. We also find that the TH recorded from the side direction of the filament is the Rayleigh scattering of the TH by soot nanoparticles within the flame and that the intensity of the TH varies depending on the fuel species as well as on the position of the laser filament within the flame. Our results show that a remote and in situ measurement of distributions of soot nanoparticles in a combustion flame can be achieved by Rayleigh scattering spectroscopy of the TH generated by a femtosecond-laser-induced filament in the combustion flame.

17.
Opt Lett ; 42(3): 510-513, 2017 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-28146514

RESUMO

We report an approach for remote and rapid fabrication of a broadband low-reflectivity black silicon surface by ablating crystalline silicon with femtosecond laser filaments in air. Porous microstructures on the processed silicon surface are formed, resulting in a significantly enhanced light trapping efficiency in a broadband (UV-IR) spectral range. It is found that the air filament can significantly reduce the average number of adopted pulses in a normalized fabrication area and enables the processing remotely, which opens a way toward remote and rapid micromachining of optoelectronic materials by femtosecond laser filaments.

18.
Opt Express ; 24(4): 3424-31, 2016 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-26907001

RESUMO

We report on measurements of both the critical power for self-focusing of a Ti: Sapphire 800 nm femtosecond laser and the peak intensity clamped inside a single filament in an ethanol-air flame on an alcohol burner array. By observing the shift of focal position of femtosecond laser pulses, we determine the critical power in the flame to be 2.2 ± 0.3 GW, which is 4-5 times smaller than the usually quoted one in air. The clamped laser intensity inside the filament is measured to be roughly half of that in air. Our results provide insights into the understanding of femtosecond laser filamentation in flames for practical application of combustion diagnostics.

19.
Int J Clin Exp Pathol ; 8(9): 11434-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26617871

RESUMO

BACKGROUND: Thyroid dysgenesis (TD) is the most frequent cause of congenital hypothyroidism (CH), but its pathogenesis remains unclear. As a thyroid transcription factor, paired box transcription factor 8 (PAX8) is essential for thyroid organogenesis and development. AIM: To screen PAX8 mutations and characterize the features of these mutations in Chinese TD patients. MATERIALS AND METHODS: Blood samples were collected from 63 TD patients in Shandong Province, China, and genomic DNA was extracted from peripheral blood leukocytes. Exon 3~4 of PAX8 were analyzed by PCR and direct sequencing. RESULTS: Direct sequencing of PAX8 revealed a heterozygous missense mutation (c.155G/C, P.Arg52Pro) in one child with agenesis. Genetic screening of the child's family revealed that the clinically unaffected parents do not carry the mutation, suggesting that the identified sequence change is a de novo mutation. CONCLUSION: We report a heterozygous missense de novo mutation in PAX8 in one out of 63 unrelated Chinese TD patients, showing that the PAX8 mutation rate is very low in TD patients in China. However, de novo mutation and epigenetic mechanisms need to be considered in the future study.


Assuntos
Povo Asiático/genética , Mutação de Sentido Incorreto , Fator de Transcrição PAX8/genética , Disgenesia da Tireoide/genética , Criança , Pré-Escolar , Hipotireoidismo Congênito/genética , Feminino , Humanos , Lactente , Masculino , Linhagem , Reação em Cadeia da Polimerase Via Transcriptase Reversa
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...