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1.
BMC Vet Res ; 20(1): 147, 2024 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-38643185

RESUMEN

BACKGROUND: Gamithromycin is an effective therapy for bovine and swine respiratory diseases but not utilized for rabbits. Given its potent activity against respiratory pathogens, we sought to determine the pharmacokinetic profiles, antimicrobial activity and target pharmacokinetic/pharmacodynamic (PK/PD) exposures associated with therapeutic effect of gamithromycin against Pasteurella multocida in rabbits. RESULTS: Gamithromycin showed favorable PK properties in rabbits, including high subcutaneous bioavailability (86.7 ± 10.7%) and low plasma protein binding (18.5-31.9%). PK analysis identified a mean plasma peak concentration (Cmax) of 1.64 ± 0.86 mg/L and terminal half-life (T1/2) of 31.5 ± 5.74 h after subcutaneous injection. For P. multocida, short post-antibiotic effects (PAE) (1.1-5.3 h) and post-antibiotic sub-inhibitory concentration effects (PA-SME) (6.6-9.1 h) were observed after exposure to gamithromycin at 1 to 4× minimal inhibitory concentration (MIC). Gamithromycin demonstrated concentration-dependent bactericidal activity and the PK/PD index area under the concentration-time curve over 24 h (AUC24h)/MIC correlated well with efficacy (R2 > 0.99). The plasma AUC24h/MIC ratios of gamithromycin associated with the bacteriostatic, bactericidal and bacterial eradication against P. multocida were 15.4, 24.9 and 27.8 h in rabbits, respectively. CONCLUSIONS: Subcutaneous administration of 6 mg/kg gamithromycin reached therapeutic concentrations in rabbit plasma against P. multocida. The PK/PD ratios determined herein in combination with ex vivo activity and favorable rabbit PK indicate that gamithromycin may be used for the treatment of rabbit pasteurellosis.


Asunto(s)
Enfermedades de los Bovinos , Lagomorpha , Infecciones por Pasteurella , Pasteurella multocida , Enfermedades de los Porcinos , Conejos , Animales , Bovinos , Porcinos , Antibacterianos/uso terapéutico , Antibacterianos/farmacocinética , Infecciones por Pasteurella/tratamiento farmacológico , Infecciones por Pasteurella/veterinaria , Infecciones por Pasteurella/microbiología , Macrólidos/uso terapéutico , Macrólidos/farmacocinética , Pruebas de Sensibilidad Microbiana/veterinaria , Enfermedades de los Bovinos/tratamiento farmacológico , Enfermedades de los Porcinos/tratamiento farmacológico
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(5): 519-525, 2024 May 10.
Artículo en Zh | MEDLINE | ID: mdl-38684294

RESUMEN

OBJECTIVE: To carry out cytogenetic and molecular genetic analysis for two infertile patients carrying rare small supernumerary marker chromosomes (sSMC). METHODS: Two infertile patients who received reproductive and genetic counseling at CITIC Xiangya Reproductive and Genetic Hospital on October 31, 2018 and May 10, 2021, respectively were selected as the study subjects. The origin of sSMCs was determined by conventional G banding, fluorescence in situ hybridization (FISH) and copy number variation sequencing (CNV-seq). Microdissection combined with high-throughput whole genome sequencing (MicroSeq) was carried out to determine the fragment size and genomic information of their sSMCs. RESULTS: For patient 1, G-banded karyotyping and FISH revealed that he has a karyotype of mos47,XY,del(16)(p10p12),+mar[65]/46,XY,del(16)(p10p12)[6]/48,XY,del(16)(p10p12),+2mar[3].ish mar(Tel 16p-,Tel 16q-,CEP 16-,WCP 16+). CNV analysis has yielded a result of arr[GRCh37]16p12.1p11.2(24999364_33597595)×1[0.25]. MicroSeq revealed that his sSMC has contained the region of chromosome 16 between 24979733 and 34023115 (GRCh37). For patient 2, karyotyping and reverse FISH revealed that she has a karyotype of mos 47,XX,+mar[37]/46,XX[23].rev ish CEN5, and CNV analysis has yielded a result of seq[GRCh37]dup(5)(p12q11.2)chr5:g(45120001_56000000)dup[0.8]. MicroSeq results revealed that her sSMC has contained the region of chromosome 5 between 45132364 and 55967870(GRCh37). After genetic counseling, both couples had opted in vitro fertilization (IVF) treatment and preimplantation genetic testing (PGT). CONCLUSION: For individuals harboring sSMCs, it is vital to delineate the origin and structural characteristics of the sSMCs for their genetic counseling and reproductive guidance. Preimplantation genetic testing after microdissection combined with high-throughput whole genome sequencing (MicroSeq-PGT) can provide an alternative treatment for carrier couples with a high genetic risk.


Asunto(s)
Hibridación Fluorescente in Situ , Cariotipificación , Humanos , Masculino , Femenino , Adulto , Aberraciones Cromosómicas , Pruebas Genéticas/métodos , Técnicas Reproductivas Asistidas , Variaciones en el Número de Copia de ADN , Infertilidad/genética , Marcadores Genéticos , Bandeo Cromosómico , Asesoramiento Genético
3.
Hum Reprod ; 38(7): 1399-1411, 2023 07 05.
Artículo en Inglés | MEDLINE | ID: mdl-37192818

RESUMEN

STUDY QUESTION: Can whole-exome sequencing (WES) reveal new genetic factors responsible for male infertility characterized by oligozoospermia? SUMMARY ANSWER: We identified biallelic missense variants in the Potassium Channel Tetramerization Domain Containing 19 gene (KCTD19) and confirmed it to be a novel pathogenic gene for male infertility. WHAT IS KNOWN ALREADY: KCTD19 is a key transcriptional regulator that plays an indispensable role in male fertility by regulating meiotic progression. Kctd19 gene-disrupted male mice exhibit infertility due to meiotic arrest. STUDY DESIGN, SIZE, DURATION: We recruited a cohort of 536 individuals with idiopathic oligozoospermia from 2014 to 2022 and focused on five infertile males from three unrelated families. Semen analysis data and ICSI outcomes were collected. WES and homozygosity mapping were performed to identify potential pathogenic variants. The pathogenicity of the identified variants was investigated in silico and in vitro. PARTICIPANTS/MATERIALS, SETTING, METHODS: Male patients diagnosed with primary infertility were recruited from the Reproductive and Genetic Hospital of CITIC-Xiangya. Genomic DNA extracted from affected individuals was used for WES and Sanger sequencing. Sperm phenotype, sperm nuclear maturity, chromosome aneuploidy, and sperm ultrastructure were assessed using hematoxylin and eosin staining and toluidine blue staining, FISH and transmission electron microscopy. The functional effects of the identified variants in HEK293T cells were investigated via western blotting and immunofluorescence. MAIN RESULTS AND THE ROLE OF CHANCE: We identified three homozygous missense variants (NM_001100915, c.G628A:p.E210K, c.C893T:p.P298L, and c.G2309A:p.G770D) in KCTD19 in five infertile males from three unrelated families. Abnormal morphology of the sperm heads with immature nuclei and/or nuclear aneuploidy were frequently observed in individuals with biallelic KCTD19 variants, and ICSI was unable to rescue these deficiencies. These variants reduced the abundance of KCTD19 due to increased ubiquitination and impaired its nuclear colocalization with its functional partner, zinc finger protein 541 (ZFP541), in HEK293T cells. LIMITATIONS, REASONS FOR CAUTION: The exact pathogenic mechanism remains unclear, and warrants further studies using knock-in mice that mimic the missense mutations found in individuals with biallelic KCTD19 variants. WIDER IMPLICATIONS OF THE FINDINGS: Our study is the first to report a likely causal relationship between KCTD19 deficiency and male infertility, confirming the critical role of KCTD19 in human reproduction. Additionally, this study provided evidence for the poor ICSI clinical outcomes in individuals with biallelic KCTD19 variants, which may guide clinical treatment strategies. STUDY FUNDING/COMPETING INTEREST(S): This work was supported by the National Key Research and Developmental Program of China (2022YFC2702604 to Y.-Q.T.), the National Natural Science Foundation of China (81971447 and 82171608 to Y.-Q.T., 82101961 to C.T.), a key grant from the Prevention and Treatment of Birth Defects from Hunan Province (2019SK1012 to Y.-Q.T.), a Hunan Provincial Grant for Innovative Province Construction (2019SK4012), and the China Postdoctoral Science Foundation (2022M721124 to W.W.). The authors declare no conflicts of interest. TRIAL REGISTRATION NUMBER: N/A.


Asunto(s)
Astenozoospermia , Infertilidad Masculina , Proteínas Nucleares , Oligospermia , Animales , Humanos , Masculino , Ratones , Astenozoospermia/genética , Proteínas Cromosómicas no Histona , Células HEK293 , Infertilidad Masculina/genética , Oligospermia/genética , Semen , Factores de Transcripción , Proteínas Nucleares/genética
4.
Opt Lett ; 48(4): 988-991, 2023 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-36790996

RESUMEN

Dynamic range, the ratio of maximum detectable amplitude, and the noise level, are of great importance in characterizing the performance of an interferometric fiber-optic sensor (IFOS). Here we analyze the dependence of dynamic range on carrier frequency and repetition frequency in a time-division-multiplexing (TDM) IFOS array using a heterodyne detection scheme. A novel, to the best of our knowledge, demodulation method with higher carrier frequency and an upgraded algorithm is proposed to improve the dynamic range. In the simulation and experiment, the carrier frequency was increased from 50 kHz to 20 MHz, and the demodulation method was adjusted correspondingly. The maximum detectable phase amplitude is elevated by more than 6 dB as the theoretical expectation, and the demodulated noise floor is proven to be barely influenced, holding at ∼-100 dB ref rad/H z. Experimental results demonstrate that the average dynamic range over 10 Hz to 20 kHz is enhanced by approximately 10.5 dB. The analysis and optimization presented here provide an effective solution to improve the dynamic range of TDM IFOS without any hardware change, which is promising in various applications.

5.
Opt Lett ; 48(17): 4456-4459, 2023 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-37656527

RESUMEN

This study proposes an all-optical phase modulator based on a compact fiber optic interferometer combined with Ti3C2Tx MXene-incorporated PDMS. Due to the high photothermal conversion efficiency of MXene and the high thermo-optic coefficient of PDMS, changes in pump power can be effectively converted into refractive index (RI) variations in the PDMS. Then, by employing a fiber optic interferometer with a high RI response, ultra-sensitive all-optical phase modulation can be realized. The experimental results demonstrate that the resonant wavelength shift of the modulator with MXene-incorporated PDMS is 126 times higher than that of a modulator with single MXene deposition. Also, a maximum wavelength sensitivity of 14.57 nm/mW is achieved (equivalent to a phase sensitivity of 0.33π/mW); this excellent modulation performance is a great improvement on that of a previously reported fiber-based all-optical phase modulator. Furthermore, PDMS is also employed as a packaging layer to strengthen the device structure and restrict the heat in an enclosed space, which improves the heat utilization efficiency. The proposed device shows great potential in optical communication, optical filtering, sensing, and modulation applications.

6.
Int J Clin Pract ; 2023: 6615789, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37153692

RESUMEN

Background: This study aimed to determine the effect of body mass index (BMI) on bone turnover markers in girls with idiopathic central precocious puberty (ICPP) according to weight status at diagnosis. Methods: Two hundred and eleven girls with ICPP were divided according to their weight status at diagnosis into three groups: normal weight, overweight, and obese. The serum levels of total procollagen type 1 N-terminal propeptide (P1NP), N-terminal midfragment of osteocalcin, ß-C-terminal telopeptide of type 1 collagen, and some biochemical indicators were measured. Associations between variables were evaluated by multiple regression analysis. Results: Serum P1NP concentrations were significantly different among groups (p < 0.001). No other significant differences were noted in N-terminal midfragment of osteocalcin and ß-C-terminal telopeptide of type 1 collagen. BMI was associated with estradiol (r = 0.155, p < 0.05) and inversely associated with P1NP (r = -0.251, p < 0.01), luteinizing hormone peak (r = -0.334, p < 0.01), follicle-stimulating hormone peak (r = -0.215, p < 0.01), and luteinizing hormone/follicle-stimulating hormone peak (r = -0.284, p < 0.01). Multiple regression analysis of factors associated with BMI showed that it was correlated with P1NP, follicle-stimulating hormone base, and luteinizing hormone peak in the overweight group and the obese group. Conclusions: Our findings showed that BMI was associated with P1NP, revealing the reduction of bone formation in overweight and obese girls with ICPP. During the diagnosis and treatment of girls with ICPP, attention should be paid to body weight and bone metabolism.


Asunto(s)
Pubertad Precoz , Femenino , Humanos , Índice de Masa Corporal , Pubertad Precoz/diagnóstico , Pubertad Precoz/metabolismo , Sobrepeso/complicaciones , Colágeno Tipo I/metabolismo , Osteocalcina , Hormona Luteinizante/metabolismo , Hormona Folículo Estimulante/metabolismo , Obesidad/complicaciones , Remodelación Ósea
7.
Sensors (Basel) ; 23(11)2023 Jun 02.
Artículo en Inglés | MEDLINE | ID: mdl-37300007

RESUMEN

As one of the most well-established biocompatible transition metal nitrides, titanium nitride (TiN) has been widely applied for fiber waveguide coupling device applications. This study proposes a TiN-modified fiber optic interferometer. Benefiting from the unique properties of TiN, including ultrathin nanolayer, high refractive index, and broad-spectrum optical absorption, the refractive index (RI) response of the interferometer is greatly enhanced, which is desired all the time in the field of biosensing. The experimental results show that the deposited TiN nanoparticles (NPs) can enhance the evanescent field excitation and modulate the effective RI difference of the interferometer, which eventually results in the RI response enhancement. Besides, after incorporating the TiN with different concentrations, the resonant wavelength and the RI responses of the interferometer are enhanced to varying degrees. Benefitting from this advantage, the sensing performances, including sensitivity and measurement range, can be flexibly adapted based on different detection requirements. Since RI response can effectively reflect the detection ability of biosensors, the proposed TiN-sensitized fiber optic interferometer can be potentially applied for high-sensitive biosensing applications.


Asunto(s)
Refractometría , Estaño , Refractometría/métodos , Interferometría , Tecnología de Fibra Óptica
8.
Opt Express ; 30(26): 47038-47047, 2022 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-36558641

RESUMEN

In this paper, high spatial-resolution distributed temperature sensing has been realized based on a femtosecond laser written ultra-weak Fabry-Perot Array (FPA). 50 identical Fabry-Perot cavities are fabricated in a 10 mm long optical fiber by femtosecond laser point-by-point written technology, and the corresponding spatial resolution is as high as 200 µm. Besides, by employing the total phase demodulation method, the optical path lengths (OPLs) in the ultra-weak FPA are successively demodulated based on the Rayleigh backscattering signal recorded by an optical frequency domain reflectometry (OFDR), and therefore the absolute temperature values instead of the relative ones can be obtained. When compared with the conventional single mode fiber-based OFDR, the proposed ultra-weak FPA presents both higher spatial resolution and lower temperature sensing uncertainty (0.25 °C) benefiting from the periodically enhanced Rayleigh backscattering. Furthermore, the experiments also confirm that the ultra-weak FPA can be applied for absolute temperature field profile sensing with large temperature gradient, which is particularly suitable for high-resolution temperature measurement of miniature devices.

9.
Opt Lett ; 47(1): 138-141, 2022 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-34951901

RESUMEN

A Ti3CN MXene enabled ultra-sensitive optical fiber sensor is proposed, and a salinity measurement is conducted to evaluate its sensing performance in a low-concentration target molecule detection environment. Owing to the abundance of hydrophilic functional groups (-O, -F, and -OH), large specific surface, and broad-spectrum absorption characteristics of the MXene layers, the sensing performance of the MXene-incorporated sensor is greatly improved and an ultra-high salinity sensitivity of -5.34 nm/‰ is achieved (equivalent to a refractive index sensitivity of -33429 nm/RIU). Such an excellent sensing performance is 137.33% higher than that of the bare fiber sensor and is significantly enhanced over previously reported fiber sensors. Furthermore, the sensing performance of the sensor is improved without damaging the fiber structure, which is a huge advantage when compared with the traditional fiber post-processing techniques. Finally, because the refractive index is commonly used to characterize the detection ability of biosensors, our contribution suggests the integration of MXene as a potential approach to develop high-performance optical fiber biosensors.


Asunto(s)
Técnicas Biosensibles , Fibras Ópticas , Refractometría , Salinidad , Titanio
10.
Molecules ; 27(24)2022 Dec 08.
Artículo en Inglés | MEDLINE | ID: mdl-36557836

RESUMEN

Formic acid is a common chemical raw material, the effective detection of which is of importance to food safety and environmental quality. In this work, the lanthanide functionalized dual-emission metal-organic framework (TH25) was prepared as a ratiometric fluorescent sensor for formic acid. This ratiometric sensor has a good detection performance with high selectivity, sensitivity, and reproducibility. Together with a low limit of detection of 2.1 ppm, these characters promise the ability to sense at low levels as well as a practical detection ability. This work provides ideas for the design and synthesis of effective chemical sensors for organic acids.


Asunto(s)
Elementos de la Serie de los Lantanoides , Estructuras Metalorgánicas , Reproducibilidad de los Resultados , Colorantes , Formiatos , Colorantes Fluorescentes
11.
Curr Psychol ; : 1-11, 2022 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-35068907

RESUMEN

This study explored the chain mediating effects of rumination and anxiety in the relationship between online risky behavior and sleep quality among Chinese college students. A sample of 1039 Chinese college students (Mage = 19.49, SD = 1.14, 53.32% males) were investigated with Online Risky Behavior Scale (ORBS), Pittsburgh Sleep Quality Index scale (PSQI), Ruminative Responses Scale (RRS) and Self-rating Anxiety Scale (SAS). The results showed that: (1) There is a significant positive correlation among online risky behavior, sleep quality, rumination and anxiety, and (2) Online risky behavior could not directly affect sleep quality, but it can affect sleep quality through the mediation of rumination and anxiety. The chain mediating effects includes three paths: The mediating role of rumination, the mediating role of anxiety, and the chain mediating role of rumination and anxiety after controlling for gender, grade, major, and network usage time. These findings contribute to a deeper understanding of how online risky behavior affects sleep quality and provide important practical guidance for improving sleep quality.

12.
Opt Express ; 29(9): 13696-13705, 2021 Apr 26.
Artículo en Inglés | MEDLINE | ID: mdl-33985099

RESUMEN

In this study, an optimized localization algorithm is proposed for a dual-Sagnac structure-based fiber optic distributed vibration sensing (DVS) system. Different from the previous localization algorithms, the spectrum peak ratio of the interference signals in the frequency domain is applied for localization calculation, and the localization accuracy is effectively improved for the interference signal with low Signal-Noise-Ratio (SNR). Besides, the proposed optimized algorithm can solve the difficult problem of multi-point vibration localization by employing a continuous low-coherence light source, which largely reduces the system cost. Meanwhile, multi-parameter including the frequency and amplitude of the vibration signal can be retrieved simultaneously except for the vibration position, which is not available for the traditional localization algorithm of the interferometric DVS system. Experimental results verify that the system with the proposed optimized algorithm can realize high-accuracy localization of single-point vibration, multi-point with single-frequency vibration, multi-point with multi-frequency vibration. The corresponding maximum localization errors are only 0.18%, 0.22%, and 0.36% respectively.

13.
Opt Express ; 29(12): 18624-18633, 2021 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-34154115

RESUMEN

Although numerous efforts have been dedicated towards developing fiber sensors with high performances, challenges still remain in achieving high-quality temperature sensors with high sensitivity, large measurement range and high stability. This study proposes a compact fiber optic temperature sensor based on PDMS-coated Mach-Zehnder interferometer (MZI) combined with FBG, and it can realize both high-sensitivity and large-range temperature measurement. The MZI is based on Thin No-Core Fiber (TNCF) with lateral-offset. Owing to the high refractive index sensitivity of MZI and the high thermo-optic coefficient of PDMS, the sensor can achieve a high temperature sensitivity (>10 nm/°C). Besides, by optimizing the TNCF length, the cascaded FBG can be used to locate different temperature intervals in units of approximately 10 °C, and therefore the detectable temperature range is largely extended. The experimental test demonstrates that the average sensitivities of 11.19 nm/°C, 8.53 nm/°C, 7.76 nm/°C, 7.27 nm/°C are achieved at the temperature around 30 °C, 40 °C, 50 °C and 60 °C, and it shows excellent consistency and repeatability during the thermal cycle tests.

14.
Opt Express ; 29(10): 15434-15442, 2021 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-33985243

RESUMEN

In this paper, we propose a four-wave mixing-based photonic crystal fiber (PCF) microfluid sensor, and two U-shape microslits fabricated by a femtosecond laser are embedded into the sensor for real-time microfluid measurement. Theoretical and experimental results prove that the signal wavelength is sensitive to both the refractive index (RI) and the material dispersion property of the liquid sample filled into the air channels. For different aqueous target samples at low concentrations, the responses of signal wavelength are consistent with each other. The obtained RI sensitivity is approximately 881.36 nm/RIU, and the sensing resolution is around 1.6 × 10-4 RIU. The proposed sensor also shows a better figure of merit (FOM) as high as 313.65 RIU-1 when compared with the fiber SPR sensors. Besides, the signal wavelengths present different responses with the increasing aqueous concentration due to the separated dispersion characteristics of the filled liquid samples, which can be potentially applied for the discrimination of liquid samples with a well-designed wavelength-coded sensor array in the future.

15.
Opt Lett ; 46(24): 6071-6074, 2021 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-34913920

RESUMEN

A single-optic-fiber sensor is proposed to simultaneously detect the refractive index (RI) and temperature (T) at a single wavelength band. This sensor is based on the mixed effects of Mach-Zehnder interference (MZI) and surface plasmon resonance (SPR), where MZI is excited by a tapered-fiber structure, and SPR is stimulated by a 45 nm gold film on the tapered-fiber surface. The detection signal of an SPR spectrum superimposed on interference stripes was obtained. After fast Fourier transform and filter processing, the MZI and SPR signals were separated. Experimental results indicate that our sensor can improve the RI sensitivity to 2021.07 nm/RIU (21-fold greater than that of the original tapered-fiber MZI sensor) and detect T simultaneously. Additionally, this highly integrated sensor simplifies the detection system, with potential applications in portable biochemical sensing.


Asunto(s)
Tecnología de Fibra Óptica , Refractometría , Temperatura
16.
Opt Lett ; 46(7): 1596-1599, 2021 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-33793496

RESUMEN

Common-mode noises (CMNs) are frequent in the fiber optic accelerometer, and their suppression is extremely important, particularly in the ultra-weak signal detection application, e.g., micro-seismic monitoring. This Letter proposes a 3-component (3C) low-reflectivity fiber Bragg gratings accelerometer for CMN self-suppression. When compared with the traditional CMN suppression method, the proposed 3C accelerometer is able to improve the CMN suppression effect by an average value larger than 4.5 dB in three axes, as well as double the effective signal amplitude due to the push-pull structure, which brings an enhanced signal-to-noise ratio. Besides, the proposed 3C accelerometer does not need an additional reference interferometer to achieve such a CMN suppression effect; hence, it largely reduces the volume and cost of the sensing system, which shows huge advantages, particularly in the large-scale quasi-distributed array. The proposed 3C accelerometer provides a promising candidate for the weak vector vibration detection.

17.
J Assist Reprod Genet ; 38(1): 243-250, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33094427

RESUMEN

PURPOSE: To elucidate the genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and provide appropriate strategies of assisted reproductive therapy (ART). MATERIALS AND METHODS: Two similar couples having a child with global developmental delay/intellectual disability symptoms attended the Reproductive and Genetic Hospital of CITIC-Xiangya (Changsha, China) in 2017 and 2019, respectively, in order to determine the cause(s) of the conditions affecting their child and to seek ART to have a healthy baby. Both of the healthy couples were not of consanguineous marriage, denied exposure to toxicants, and had no adverse life history. This study was approved by the Institutional Ethics Committee of the Reproductive & Genetic Hospital of CITIC-Xiangya, and written informed consent was obtained from the parents. Genetic diagnoses were performed by karyotype analysis, breakpoint mapping analysis of chromosomal translocation(s), single-nucleotide polymorphism (SNP) microarray analysis, and whole-exome sequencing (WES) for the two children and different appropriate reproductive strategies were performed in the two families. RESULTS: Karyotype analysis revealed that both patients carried parental reciprocal translocations [46,XY,t(7;16)(p13;q24)pat and 46,XY,t(13;17)(q12.3;p11.2)pat, respectively]. Follow-up breakpoint mapping analysis showed no interruption of associated genes, and SNP microarray analysis identified no significant copy number variations (CNVs) in the two patients. Moreover, WES results revealed that patients 1 and 2 harbored candidate compound heterozygous mutations of MCOLN1 [c.195G>C (p.K65N) and c.1061G>A (p.W354*)] and MCPH1 [c.877A>G (p.S293G) and c.1869_1870delAT (p.C624*)], respectively, that were inherited from their parents and not previously reported. Furthermore, the parents of patient 1 obtained 10 embryos during ART cycle, and an embryo of normal karyotype and non-carrier of observed MCOLN1 mutations according to preimplantation genetic testing for structural rearrangement and monogenic defect was successfully transferred, resulting in the birth of a healthy boy. The parents of patient 2 chose to undergo ART with donor sperm to reduce the risk of recurrence. CONCLUSIONS: Systematic genetic diagnosis of two carriers of inherited chromosomal translocations accompanied by clinical phenotypes revealed their cause of disease, which was critical for genetic counseling and further ART for these families.


Asunto(s)
Anomalías Congénitas/diagnóstico , Discapacidad Intelectual/diagnóstico , Diagnóstico Preimplantación , Translocación Genética/genética , Niño , China/epidemiología , Anomalías Congénitas/genética , Anomalías Congénitas/patología , Variaciones en el Número de Copia de ADN/genética , Femenino , Fertilización In Vitro/tendencias , Asesoramiento Genético/tendencias , Heterocigoto , Humanos , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Cariotipificación , Masculino , Padres , Embarazo , Reproducción/genética , Reproducción/fisiología , Técnicas Reproductivas Asistidas , Secuenciación del Exoma
18.
Sensors (Basel) ; 21(20)2021 Oct 13.
Artículo en Inglés | MEDLINE | ID: mdl-34695997

RESUMEN

This study proposes a multiplexed weak waist-enlarged fiber taper (WWFT) curvature sensor and its rapid fabrication method. Compared with other types of fiber taper, the proposed WWFT has no difference in appearance with the single mode fiber and has ultralow insertion loss. The fabrication of WWFT also does not need the repeated cleaving and splicing process, and thereby could be rapidly embedded into the inline sensing fiber without splicing point, which greatly enhances the sensor solidity. Owing to the ultralow insertion loss (as low as 0.15 dB), the WWFT-based interferometer is further used for multiplexed curvature sensing. The results show that the different curvatures can be individually detected by the multiplexed interferometers. Furthermore, it also shows that diverse responses for the curvature changes exist in two orthogonal directions, and the corresponding sensitivities are determined to be 79.1°/m-1 and -48.0°/m-1 respectively. This feature can be potentially applied for vector curvature sensing.


Asunto(s)
Tecnología de Fibra Óptica , Fibras Ópticas
19.
J Asian Nat Prod Res ; 23(4): 399-406, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32319324

RESUMEN

A new sesquiterpene pyridine alkaloid (1), along with four known compounds (2-5), were isolated from the stems and leaves of Euonymus fortunei. The new structure was determined by extensive spectroscopic analyses (IR, UV, NMR, HRESIMS and ECD). In addition, compound 3 showed a stronger anti-respiratory syncytial virus (RSV) activity with an IC50 value of 1.20 ± 0.10 µM than the positive control ribavirin with an IC50 value of 5.62 ± 0.49 µM.[Formula: see text].


Asunto(s)
Alcaloides , Euonymus , Sesquiterpenos , Estructura Molecular , Hojas de la Planta , Piridinas
20.
Opt Express ; 28(14): 20764-20772, 2020 Jul 06.
Artículo en Inglés | MEDLINE | ID: mdl-32680129

RESUMEN

This study evaluates the interrogation techniques of a hybrid fiber optic sensor based on surface plasmon resonance (SPR) and multimode interference (MMI). The sensor is based on a single mode, fiber-no core, fiber-single mode fiber (SMF-NCF-SMF) structure with a deposited gold film layer. Both SPR and MMI effects are excited in a single sensor structure without enlarging the device size. However, at the same time, the interference fringe patterns are also mixed with the SPR transmission spectra, and the traditional SPR interrogation technique becomes unavailable since the resonant wavelength is hard to be located. In this study, the fast Fourier transform and different filtering algorithms are applied, both SPR signal and interference signal with different orders are separated effectively due to their different spatial frequency distributions, and they are processed individually for refractive index (RI) sensing. The experimental results verify that the overall RI sensitivity of the hybrid sensor is significantly enhanced. This study provides an important supplement to the traditional SPR and MMI functions.

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