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1.
J Acoust Soc Am ; 151(3): 1593, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35364950

RESUMO

This study is aimed at the quantitative investigation of wave propagation through the skull bone and its dependence on different coupling methods of the bone conduction hearing aid (BCHA). Experiments were conducted on five Thiel embalmed whole head cadaver specimens. An electromagnetic actuator from a commercial BCHA was mounted on a 5-Newton steel headband, at the mastoid, on a percutaneously implanted screw (Baha® Connect), and transcutaneously with a Baha® Attract (Cochlear Limited, Sydney, Australia), at the clinical bone anchored hearing aid (BAHA) location. Surface motion was quantified by sequentially measuring ∼200 points on the skull surface via a three-dimensional laser Doppler vibrometer (3D LDV) system. The experimental procedure was repeated virtually, using a modified LiUHead finite element model (FEM). Both experiential and FEM methods showed an onset of deformations; first near the stimulation area, at 250-500 Hz, which then extended to the inferior ipsilateral skull surface, at 0.5-2 kHz, and spread across the whole skull above 3-4 kHz. Overall, stiffer coupling (Connect versus Headband), applied at a location with lower mechanical stiffness (the BAHA location versus mastoid), led to a faster transition and lower transition frequency to local deformations and wave motion. This behaviour was more evident at the BAHA location, as the mastoid was more agnostic to coupling condition.


Assuntos
Condução Óssea , Auxiliares de Audição , Condução Óssea/fisiologia , Cabeça , Crânio/fisiologia , Vibração
2.
ORL J Otorhinolaryngol Relat Spec ; 83(3): 172-180, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33626533

RESUMO

HYPOTHESIS: The endolymphatic hydrops (EH) does not affect hearing loss significantly at low frequencies, whereas the hydrops affects the diplacusis. BACKGROUND: There have been many arguments whether the EH cause the Meniere disease. Despite a lot of experimental studies to investigate the Meniere disease, there have been little modeling studies, which are helpful to understand the mechanism. METHODS: A 3D finite element model of the human cochlea and the middle ear was used for investigation of the relationship between EH and hearing loss at low frequencies and diplacusis (2 specific symptoms of Meniere disease). While the cochlear geometry was simplified as a tapered box shape, the middle ear was based on the real geometry obtained from µCT images. EH is implemented by prestress on the basilar membrane surface in the simulation. RESULTS: The EH did not cause significant hearing loss at low frequencies in both air- and bone-conducted hearing. Rather, this disorder caused a shift in best frequency (BF) position to the base at low frequencies below about 250 Hz. The BF shift can explain the diplacusis because a low-frequency sound can be perceived as a slightly higher frequency so that Meniere patients can perceive 2 different frequency sounds corresponding to a given single-frequency sound. CONCLUSION: The EH cannot be a sufficient condition for Meniere disease, whereas the hydrops can cause the diplacusis.


Assuntos
Hidropisia Endolinfática , Doença de Meniere , Acústica , Hidropisia Endolinfática/diagnóstico , Hidropisia Endolinfática/diagnóstico por imagem , Audição , Testes Auditivos , Humanos , Imageamento por Ressonância Magnética , Doença de Meniere/complicações , Doença de Meniere/diagnóstico
3.
Int J Mol Sci ; 22(11)2021 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-34200157

RESUMO

The purpose of this study was to investigate whether polymorphisms in five microRNAs (miRNAs), miR-604A>G, miR-608C>G, 631I/D, miR-938G>A, and miR-1302-3C>T, are associated with the risk of idiopathic recurrent pregnancy loss (RPL). Blood samples were collected from 388 patients with idiopathic RPL (at least two consecutive spontaneous abortions) and 227 control participants. We found the miR-604 AG and AG + GG genotypes of miR-604, the miR-938 GA and GA + AA genotypes of miR-938, and the miR-1302-3CT and CT + TT genotypes of miR-1302-3 are less frequent than the wild-type (WT) genotypes, miR-604AA, miR-938GG, and miR-1302-3CC, respectively, in RPL patients. Using allele-combination multifactor dimensionality reduction (MDR) analysis, we found that eight haplotypes conferred by the miR-604/miR-608/miR-631/miR-938/miR-1302-3 allele combination, A-C-I-G-T, A-C-I-A-C, G-C-I-G-C, G-C-I-G-T, G-G-I-G-C, G-G-I-G-T, G-G-I-A-C, G-G-D-G-C, three from the miR-604/miR-631/miR-938/miR-1302-3 allele combination, A-I-G-T, G-I-G-C, G-I-A-T, one from the miR-604/miR-631/miR-1302-3 allele combination, G-I-C, and two from the miR-604/miR-1302-3 allele combination, G-C and G-T, were less frequent in RPL patients, suggesting protective effects (all p < 0.05). We also identified the miR-604A>G and miR-938G>A polymorphisms within the seed sequence of the mature miRNAs and aligned the seed sequences with the 3'UTR of putative target genes, methylenetetrahydrofolate reductase (MTHFR) and gonadotropin-releasing hormone receptor (GnRHR), respectively. We further found that the binding affinities between miR-604/miR-938 and the 3'UTR of their respective target genes (MTHFR, GnRHR) were significantly different for the common (miR-604A, miR-938G) and variant alleles (miR-604G, miR-938A). These results reveal a significant association between the miR-604A>G and miR-938G>A polymorphisms and idiopathic RPL and suggest that miRNAs can affect RPL in Korean women.


Assuntos
Aborto Habitual/patologia , Predisposição Genética para Doença , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único , Regiões 3' não Traduzidas , Aborto Habitual/etiologia , Adulto , Estudos de Casos e Controles , Implantação do Embrião , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Gravidez
4.
J Acoust Soc Am ; 140(3): 1635, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27914383

RESUMO

A whole head finite element model for simulation of bone conducted (BC) sound transmission was developed. The geometry and structures were identified from cryosectional images of a female human head and eight different components were included in the model: cerebrospinal fluid, brain, three layers of bone, soft tissue, eye, and cartilage. The skull bone was modeled as a sandwich structure with an inner and outer layer of cortical bone and soft spongy bone (diploë) in between. The behavior of the finite element model was validated against experimental data of mechanical point impedance, vibration of the cochlear promontories, and transcranial BC sound transmission. The experimental data were obtained in both cadaver heads and live humans. The simulations showed multiple low-frequency resonances where the first was caused by rotation of the head and the second was close in frequency to average resonances obtained in cadaver heads. At higher frequencies, the simulation results of the impedance were within one standard deviation of the average experimental data. The acceleration response at the cochlear promontory was overall lower for the simulations compared with experiments but the overall tendencies were similar. Even if the current model cannot predict results in a specific individual, it can be used for understanding the characteristic of BC sound transmission in general.


Assuntos
Cabeça , Condução Óssea , Simulação por Computador , Feminino , Análise de Elementos Finitos , Humanos , Crânio , Som , Vibração
5.
Biophys J ; 107(1): 233-41, 2014 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-24988357

RESUMO

For the most part, the coiled shape of the cochlea has been shown to have only minor importance for air-conducted hearing. It is hypothesized, however, that this coiled shape may play a more significant role for the bone-conducted (BC) route of hearing, through inertial forces exerted by the middle ear and cochlear fluid, and that this can be tested by comparing the results of applying BC stimuli in a variety of different directions. A three-dimensional finite element model of a human middle ear coupled to the inner ear was formulated. BC excitations were simulated by applying rigid-body vibrations normal to the surface of the basilar membrane (BM) at 0.8 (d(1)), 5.8 (d(2)), 15.6 (d(3)), and 33.1 (d(4)) mm from the base of the cochlea, such that relative motions of the fluid within the cochlea produced excitations of the BM. The vibrational direction normal to the BM surface at the base of the cochlea (d(1)) produced the highest BM velocity response across all tested frequencies-higher than an excitation direction normal to the BM surface at the nonbasal locations (d(2)-d(4)), even when the stimulus frequency matched the best frequency for each location. The basal part of the human cochlea features a well-developed hook region, colocated with the cochlear vestibule, that features the largest difference in fluid volume between the scala vestibuli (SV) and scala tympani (ST) found in the cochlea. The proximity of the hook region to the oval and round windows, combined with it having the biggest fluid-volume difference between the SV and ST, is thought to result in a maximization of the pressure difference between the SV and ST for BC stimuli normal to the BM in this region, and consequently a maximization of the resulting BM velocity.


Assuntos
Condução Óssea , Cóclea/fisiologia , Canais Semicirculares/fisiologia , Humanos , Modelos Biológicos
6.
J Stroke Cerebrovasc Dis ; 23(5): 1199-206, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24582793

RESUMO

BACKGROUND: Leukoaraiosis (LA) is associated with structural and functional vascular changes that correlate with motor and gait disturbances, depressive symptoms, urinary disturbances, and dementia. The blood-brain barrier (BBB) plays a key role in development of lacunar stroke, leukoaraiosis, and other feature of cerebral small-vessel disease, and there are numerous studies examining changes in the BBB with normal aging and in dementia and LA. Aquaporin-4 (AQP-4), the primary water channel protein in the central nervous system, is involved in BBB development, function, and integrity, and its dysfunction induces several neurologic diseases. The aim of our study was to evaluate whether genetic variations in AQP-4 gene are associated with the development of LA. METHODS: DNA was amplified and the single-nucleotide polymorphisms in AQP-4 gene were investigated by melting curve analysis using real-time polymerase chain reaction. RESULTS: The frequency of both T allele and CT/TT genotypes of rs2075575 was significantly higher in LA group than in control group (C versus T, P = .0145; CC versus CT/TT, P = .038). However, no significant difference was observed between LA group and control group in rs9951307. Interestingly, the rs9951307 AG + GG genotype may confer a synergistic effect in odds ratio (OR) values when combined with the rs2075575 CT + TT genotypes (OR = 1.65 → 2.51). The C-A haplotype was significantly different between LA group and the control group (P = .005). By stratified analysis, rs2075575 and rs9951307 polymorphisms were statistically significant in the subjects with hypertension and hemoglobin A1c (P < .05), whereas the rs2075575 polymorphism was associated with high serum cholesterol (P < .05) and the rs9951307 polymorphism was associated with low serum homocysteine (P < .05). CONCLUSIONS: Our results indicate that AQP-4 genetic variations and haplotypes might contribute to the risk factors for LA.


Assuntos
Aquaporina 4/genética , Leucoaraiose/genética , Polimorfismo de Nucleotídeo Único , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Colesterol/sangue , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Hemoglobinas Glicadas/análise , Haplótipos , Humanos , Leucoaraiose/sangue , Leucoaraiose/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fenótipo , Reação em Cadeia da Polimerase em Tempo Real , Fatores de Risco
7.
Exp Ther Med ; 28(2): 332, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38979016

RESUMO

The possible genetic variants associated with blepharospasm (BSP) and facial dystonia have been investigated. Although genetic variants associated with BSP have been extensively studied, the contribution of single-nucleotide polymorphisms towards this condition remains poorly understood. In addition, the etiology of BSP remains to be fully elucidated. Therefore, the present study aimed to assess the role of polymorphisms in the torsin 1A (TOR1A), dopamine receptor D (DRD)2 and DRD5 genes in South Korean patients with BSP. Furthermore, the role of genetic variants of these three aforementioned genes was investigated. A prospective case-control study was established, where 56 patients with BSP and 115 healthy controls were recruited at the Department of Ophthalmology of CHA Bundang Medical Center (Seongnam, South Korea) using single nucleotide polymorphisms analysis by real-time PCR. The TOR1A rs1182CC/DRD5 rs6283TC genotype combination was found to be associated with decreased BSP risk [adjusted odds ratio (AOR), 0.288; P=0.013]. DRD5 rs6283 was observed to be associated with the periocular type of BSP in the co-dominant (for the TC genotype; AOR, 0.370; P=0.029) and dominant models (AOR, 0.406; P=0.029). The recessive model of TOR1A rs1801968 (AOR, 0.245; P=0.030), and the recessive (AOR, 0.245; P=0.029) and over-dominant models (AOR, 2.437; P=0.019) of DRD2 rs1800497 were found to be associated with superior responses to botulinum neurotoxin A (BoNT) treatment. By contrast, dominant (AOR, 0.205; P=0.034) and additive (AOR, 0.227; P=0.030) models of DRD5 rs6283 were associated with poor responses to BoNT treatment. To conclude, these results suggested that DRD2 rs1800497 can confer genetic susceptibility to BSP responses to BoNT treatment, whereas the TOR1A rs1182CC/DRD5 rs6283TC genotype combination appeared to contribute to the association with BoNT efficacy in BSP.

8.
Acta Neurochir (Wien) ; 155(10): 1937-42, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23732872

RESUMO

BACKGROUND: Abnormalities of bone metabolism may be involved in the pathogenesis of ossification of the posterior longitudinal ligament (OPLL) of the spine. Besides its hemostatic effect, vitamin K epoxide reductase complex subunit 1 (VKORC1) plays a pivotal role in bone mineralization. The aim of this study is to investigate whether single nucleotide polymorphisms (SNPs) of the VKORC1 gene are associated with the occurrence of OPLL in a Korean population. METHOD: A total of 98 patients with OPLL and 200 controls were genotyped for the VKORC1-1639G>A SNP (rs9923231) by polymerase chain reaction and restriction fragment length polymorphism analysis. All the patients (n = 98) in this study underwent surgery (60, posterior-only approach; 36, anterior-only approach; 2, combined anterior and posterior approach) during their admission. We analyzed this association separately according to the gender and OPLL subgroup: OPLL continuous group (continuous type plus mixed type) and OPLL segmental group (segmental and localized type). RESULTS: We found that the genotype VKORC1-1639G>A frequency was significantly associated with the occurrence of the OPLL in the female group (adjusted odds ratio = 5.22, 95 % confidence interval: 1.675 to 16.269, p = 0.004). However, there was no overall association between the OPLL susceptibility and VKORC1-1639G>A polymorphism. A subgroup analysis did not show any significant correlation between VKORC1-1639G>A polymorphism and subgroup of OPLL either. CONCLUSION: Our results suggest that the VKORC1-1639G>A SNP may increase susceptibility to OPLL in women. However, there was only a statistical association in the female group despite a number of stratified analyses. Therefore, the findings should be interpreted with caution, and further genetic study is needed to improve our understanding of the role of VKORC1 polymorphisms in determining the risk of OPLL occurrence.


Assuntos
Predisposição Genética para Doença , Ossificação do Ligamento Longitudinal Posterior/genética , Polimorfismo de Nucleotídeo Único/genética , Vitamina K Epóxido Redutases/genética , Adulto , Idoso , Povo Asiático/genética , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Ossificação do Ligamento Longitudinal Posterior/etiologia , Fatores Sexuais
9.
Hear Res ; 429: 108699, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-36680873

RESUMO

A whole head or temporal bone has been used in experiments to understand the mechanism of bone conduction (BC) hearing. In these experiments, two assumptions are generally accepted: (1) a promontory can be a representative point to show the motion of a specimen in BC hearing, and (2) the promontory velocity is proportional to a cochlear response so that the higher the promontory velocity, the better the BC hearing. To confirm the two assumptions, we investigated the velocities of various points corresponding to different BC input types and directions in the head. In this investigation, we used the three-dimensional finite element model of a human head, including an auditory periphery. Results showed that a single promontory was insufficient to be a representative point to show the motion of a specimen because the specimen could have rotational motion at frequencies below 0.5 kHz and the localized deformation at frequencies above 3 kHz. The promontory velocity had the same pattern as the basilar membrane velocity at low and high frequencies. However, at mid-frequencies between 0.5 and 3 kHz, the promontory did not exhibit the same pattern of velocity as the basilar membrane. Therefore, one's BC hearing ability must be carefully determined on the basis of promontory velocity.


Assuntos
Condução Óssea , Cóclea , Humanos , Condução Óssea/fisiologia , Estimulação Acústica/métodos , Análise de Elementos Finitos , Cóclea/fisiologia , Osso Temporal/fisiologia , Vibração
10.
Front Neurosci ; 17: 1064890, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36866333

RESUMO

Stapedotomy or stapedectomy operations are often performed to treat otosclerosis. During the operation, the space created by bone removal is usually filled with a closing material such as fat or fascia. In this study, the effect of the Young's modulus of the closing material on the hearing level was investigated through the 3D finite element model of a human head including auditory periphery. The Young's moduli of the closing material used to implement stapedotomy and stapedectomy conditions in the model were varied from 1 kPa to 24 MPa. The results showed that the hearing level improved when the closing material was more compliant after stapedotomy. Therefore, when the stapedotomy was performed using fat whose Young's modulus is lowest among the potential closing materials, the hearing level recovered the best among all simulated cases. On the other hand, in stapedectomy, the Young's modulus did not have the linear relationship between the hearing level and the compliance of the closing material. Hence, the Young's modulus causing the best hearing rehabilitation in stapedectomy was found not at the end of the investigated range of Young's modulus but somewhere in the middle of the given range.

11.
Biomedicines ; 11(5)2023 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-37239044

RESUMO

Recurrent implantation failure (RIF) refers to two or more unsuccessful in vitro fertilization embryo transfers in the same individual. Embryonic characteristics, immunological factors, and coagulation factors are known to be the causes of RIF. Genetic factors have also been reported to be involved in the occurrence of RIF, and some single nucleotide polymorphisms (SNPs) may contribute to RIF. We examined SNPs in FSHR, INHA, ESR1, and BMP15, which have been associated with primary ovarian failure. A cohort of 133 RIF patients and 317 healthy controls consisting of all Korean women was included. Genotyping was performed by Taq-Man genotyping assays to determine the frequency of the following polymorphisms: FSHR rs6165, INHA rs11893842 and rs35118453, ESR1 rs9340799 and rs2234693, and BMP15 rs17003221 and rs3810682. The differences in these SNPs were compared between the patient and control groups. Our results demonstrate a decreased prevalence of RIF in subjects with the FSHR rs6165 A>G polymorphism [AA vs. AG adjusted odds ratio (AOR) = 0.432; confidence interval (CI) = 0.206-0.908; p = 0.027, AA+AG vs. GG AOR = 0.434; CI = 0.213-0.885; p = 0.022]. Based on a genotype combination analysis, the GG/AA (FSHR rs6165/ESR1 rs9340799: OR = 0.250; CI = 0.072-0.874; p = 0.030) and GG-CC (FSHR rs6165/BMP15 rs3810682: OR = 0.466; CI = 0.220-0.987; p = 0.046) alleles were also associated with a decreased RIF risk. Additionally, the FSHR rs6165GG and BMP15 rs17003221TT+TC genotype combination was associated with a decreased RIF risk (OR = 0.430; CI = 0.210-0.877; p = 0.020) and increased FSH levels, as assessed by an analysis of variance. The FSHR rs6165 polymorphism and genotype combinations are significantly associated with RIF development in Korean women.

12.
Hear Res ; 421: 108337, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-34470714

RESUMO

A three-dimensional finite-element (FE) model of a human head including the auditory periphery was developed to obtain a better understanding of bone-conducted (BC) hearing. The model was validated by comparison of cochlear and head responses in both air-conducted (AC) and BC hearing with experimental data. Specifically, the FE model provided the cochlear responses such as basilar membrane velocity and intracochlear pressure corresponding to BC stimulations applied to the mastoid or the conventional bone-anchored-hearing-aid (BAHA) positions. This is a strength of the model because it is difficult to obtain the cochlear responses from experiments corresponding to the BC stimulation applied at a specific position on the head surface. In addition, there have been few studies based on an FE model that can calculate the head and cochlear responses simultaneously from a BC stimulation. Moreover, in this study, the intracochlear sound pressure at multi-positions along the BM length was calculated and used to clarify the effect of stimulating force direction on the cochlear and promontory velocities in BC hearing. Also, the relationship between BC and AC stimulation and the basilar membrane velocity in the FE model was used to calculate the stimulation level at hearing thresholds which has been investigated only by psychoacoustical methods.


Assuntos
Condução Óssea , Audição , Estimulação Acústica/métodos , Limiar Auditivo/fisiologia , Condução Óssea/fisiologia , Análise de Elementos Finitos , Humanos
13.
Biomedicines ; 10(10)2022 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-36289656

RESUMO

This study investigated the genetic association between recurrent pregnancy loss (RPL) and microRNA (miRNA) polymorphisms in miR-10aA>T, miR-30cA>G, miR-181aT>C, and miR-499bA>G in Korean women. Blood samples were collected from 381 RPL patients and 281 control participants, and genotyping of miR-10aA>T, miR-30cA>G, miR-181aT>C, and miR-499bA>G was carried out by TaqMan miRNA RT-Real Time polymerase chain reaction (PCR). Four polymorphisms were identified, including miR-10aA>T, miR-30cA>G, miR-181aT>C, and miR-499bA>G. MiR-10a dominant model (AA vs. AT + TT) and miR-499bGG genotypes were associated with increased RPL risk (adjusted odds ratio [AOR] = 1.520, 95% confidence interval [CI] = 1.038−2.227, p = 0.032; AOR = 2.956, 95% CI = 1.168−7.482, p = 0.022, respectively). Additionally, both miR-499 dominant (AA vs. AG + GG) and recessive (AA + AG vs. GG) models were significantly associated with increased RPL risk (AOR = 1.465, 95% CI = 1.062−2.020, p = 0.020; AOR = 2.677, 95% CI = 1.066−6.725, p = 0.036, respectively). We further propose that miR-10aA>T, miR-30cA>G, and miR-499bA>G polymorphisms effects could contribute to RPL and should be considered during RPL patient evaluation.

14.
Biomedicines ; 10(7)2022 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-35884785

RESUMO

Recurrent pregnancy loss (RPL) is typically defined as two or more consecutive pregnancy losses prior to 20 weeks of gestation. Although the causes of idiopathic RPL are not completely understood, vascular development and glucose concentration were reported to correlate with the pregnancy loss. The TGF-ß signaling pathway which plays a significant role in pregnancy is activated by the interaction between high glucose and SMAD signaling and affects the vascular cells. SMAD5 and RUNX-1 are involved in the TGF-ß signaling pathway and contribute to advanced glycation end products (AGEs) production and vascular development. FN3KRP, a newly described gene, is also associated with vascular diseases and suggested to relate to AGEs. Therefore, in the present study, we investigated associations between RPL risk and genetic polymorphisms of SMAD5, FN3KRP, and RUNX-1 in 388 women with RPL and 280 healthy control women of Korean ethnicity. Participants were genotyped using real-time polymerase chain reaction and restriction fragment length polymorphism assay to determine the frequency of SMAD5 rs10515478 C>G, FN3KRP rs1046875 G>A, and RUNX-1 rs15285 G>A polymorphisms. We found that women with RPL had lower likelihoods of the FN3KRP rs1046875 AA genotype (adjusted odds ratio (AOR), 0.553; p = 0.010) and recessive model (AOR, 0.631; p = 0.017). Furthermore, combination analysis showed that SMAD5 rs10515478 C>G and FN3KRP rs1046875 G>A mutant alleles were together associated with reduced RPL risk. These findings suggest that the FN3KRP rs1046875 G>A polymorphism has a significant role on the prevalence of RPL in Korean women. Considering that it is the first study indicating a significant association between FN3KRP and pregnancy disease, RPL, our results suggest the need for further investigation of the role of FN3KRP in pregnancy loss.

15.
Genes (Basel) ; 13(6)2022 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-35741699

RESUMO

Recurrent pregnancy loss (RPL) is the loss of two or more consecutive pregnancies before 20 weeks of gestational age. Our study investigated whether mucin 4 (MUC4) polymorphisms are associated with RPL. MUC polymorphisms (rs882605 C>A, rs1104760 A>G, rs2688513 A>G, rs2258447 C>T, and rs2291652 A>G) were genotyped in 374 women with RPL and 239 controls of Korean ethnicity using polymerase chain reaction-restriction fragment length polymorphism analysis and the TaqMan probe SNP genotyping assay. Differences in genotype frequencies between cases of RPL and the controls were compared. MUC4 rs882605 C>A and rs1104760 A>G polymorphisms were associated with increased incidence of RPL in three and four or more pregnancy loss patients. The haplotype analyses showed a tendency for the allelic effect including the association of MUC4 rs882605 A and rs1104760 G alleles with increased incidence of RPL. In addition, the MUC4 rs882605 CA/MUC4 rs2258447 CC genotype combination was associated with increased RPL prevalence. The two exonic polymorphisms lead to amino acid changes of protein and may act as pathogenic variants for RPL. In conclusion, the MUC4 rs882605 C>A and MUC4 rs1104760 A>G polymorphisms were associated with the susceptibility of RPL and we considered them as potential biomarkers for RPL.


Assuntos
Aborto Habitual , Mucina-4 , Aborto Habitual/genética , Estudos de Casos e Controles , Feminino , Humanos , Mucina-4/genética , Polimorfismo de Nucleotídeo Único/genética , Gravidez , República da Coreia
16.
J Pers Med ; 12(5)2022 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-35629182

RESUMO

Coronary artery disease (CAD), a leading cause of death worldwide, has a complex etiology comprising both traditional risk factors (type 2 diabetes, dyslipidemia, arterial hypertension, and cigarette smoking) and genetic factors. Vascular endothelial growth factor (VEGF) notably contributes to angiogenesis and endothelial homeostasis. However, little is known about the relationship between CAD and VEGF polymorphisms in Koreans. The aim of this study is to investigate the associations of 2 VEGF promoter region polymorphisms (−1154G>A [rs1570360], −1498T>C [rs833061]) and 4 VEGF 3'-UTR polymorphisms (+936C>T [rs3025039], +1451C>T [rs3025040], +1612G>A [rs10434], and +1725G>A [rs3025053]) with CAD susceptibility in Koreans. We studied 885 subjects: 463 CAD patients and 422 controls. Genotyping was conducted with polymerase chain reaction-restriction fragment length polymorphism analysis and TaqMan allelic discrimination assays, and the genotype frequencies were calculated. We then performed haplotype and genotype combination analyses and measured the associations between VEGF polymorphisms and clinical variables in both the CAD patients and control subjects. We detected statistically significant associations between CAD and certain VEGF allele combinations. In the haplotypes of 5 single-nucleotide polymorphisms, the VEGF allele combination −1154A/+936T was associated with a decreased prevalence of CAD (A-T-T-G-G of VEGF −1154G>A/−1498T>C/+936C>T/+1612G>A/+1725G>A, AOR = 0.077, p = 0.021). In contrast, the VEGF allele combinations −1498T/+1725A and −1498T/+1612A/+1725A were associated with an increased prevalence of CAD (G-T-C-C-A of VEGF −1154G>A/−1498T>C/+936C>T/+1451C>T/+1725G>A, AOR = 1.602, p = 0.047; T-C-C-A-A of VEGF −1498T>C/+936C>T/+1451C>T/+1612G>A/+1725G>A, AOR = 1.582, p = 0.045). Gene−environment combinatorial analysis showed that the combination of the VEGF +1725AA genotype and several clinical factors (e.g., body mass index, hemoglobin A1c, and low-density lipoprotein cholesterol) increased the risk of CAD. Therefore, we suggest that VEGF polymorphisms and clinical factors may impact CAD prevalence.

17.
Eur Neurol ; 65(5): 250-6, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21464570

RESUMO

BACKGROUND/AIMS: It is generally assumed that silent brain infarction (SBI) and symptomatic lacunar infarction (sLAC) share common vascular risk factors and their pathogeneses are known to be similar. However, few studies have conducted a risk factor profile analysis of the two diseases in a single study design. METHODS: This study included 64 subjects with SBI lesions, 140 patients with sLAC, and 342 controls by retrospective investigation of brain MRI. Topographic findings and vascular risk factor profiles were compared. RESULTS AND CONCLUSION: Compared to the controls, the SBI group was found to be associated with hypertension (p = 0.002) and elevated plasma total homocysteine level (p = 0.02). The sLAC group was found to be associated with hypertension (p = 0.001), diabetes (p = 0.004), smoking (p = 0.002), ischemic heart disease (p = 0.01) and hyperlipidemia (p = 0.04). In the present study, risk factor profiles of the SBI and sLAC were not exactly the same, indicating a different pathogenesis between the two diseases.


Assuntos
Infarto Encefálico/diagnóstico , Infarto Encefálico/etiologia , Infarto Encefálico/patologia , Encéfalo/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Infarto Encefálico/fisiopatologia , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Prevalência , Estudos Retrospectivos , Medição de Risco/métodos , Fatores de Risco
18.
Sci Rep ; 11(1): 3043, 2021 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-33542269

RESUMO

This study proposes and analyzes a novel methodology that can effectively detect multi-mode combustion instability (CI) in a gas turbine combustor. The experiment is conducted in a model gas turbine combustor, and dynamic pressure (DP) and flame images are examined during the transition from stable to unstable flame, which is driven by changing fuel compositions. As a powerful technique for early detection of CI in multi-mode as well as in single mode, a new filter bank (FB) method based on spectral analysis of DP is proposed. Sequential processing using a triangular filter with Mel-scaling and a Hamming window is applied to increase the accuracy of the FB method, and the instability criterion is determined by calculating the magnitude of FB components. The performance of the FB method is compared with that of two conventional methods that are based on the root-mean-squared DP and temporal kurtosis. From the results, the FB method shows comparable performance in detection speed, sensitivity, and accuracy with other parameters. In addition, the FB components enable the analysis of various frequencies and multi-mode frequencies. Therefore, the FB method can be considered as an additional prognosis tool to determine the multi-mode CI in a monitoring system for gas turbine combustors.

19.
J Pers Med ; 11(5)2021 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-34064346

RESUMO

Coronary artery disease (CAD), one of the most frequent causes of mortality, is the most common type of cardiovascular disease. This condition is characterized by the accumulation of plaques in the coronary artery, leading to blockage of blood flow to the heart. The main symptom of CAD is chest pain caused by blockage of the coronary artery and shortness of breath. HOX transcript antisense RNA gene (HOTAIR) is a long non-coding RNA which is well-known as an oncogene involved in various cancers, such as lung, breast, colorectal, and gastric cancer. We selected six single nucleotide polymorphisms, rs4759314 A>G, rs1899663 G>T, rs920778 T>C, rs7958904 G>C, rs12826786 C>T, and rs874945 C>T, for genotype frequency analysis and assessed the frequency of HOTAIR gene polymorphisms in 442 CAD patients and 418 randomly selected control subjects. To analyze the differences between these two populations, we performed a Student's t-test, adjusted odds ratio (AOR), 95% confidence intervals (CIs), and ANOVA analysis. According to our baseline characteristic analysis, control subjects and CAD patients were significantly different in hypertension and diabetes mellitus. We also found that the rs4759314 A>G, rs1899663 G>T, and rs12826786 C>T genotypes were strongly associated with CAD susceptibility (AA vs. AG+GG: AOR = 0.608, 95% CI = 0.393-0.940, p = 0.025; GG vs. TT: AOR = 2.276, 95% CI = 1.125-4.607, p = 0.022; CC vs. CT+TT: AOR = 1.366, 95% CI = 1.027-1.818, p = 0.032, respectively). Our data also demonstrated that the genotype of HOTAIR polymorphisms, genotype combination, and haplotype analysis affect disease occurrence. Moreover, these polymorphisms are linked to clinical factors that contribute to disease susceptibility. In conclusion, results from our study suggest that HOTAIR polymorphisms may be useful novel biomarkers for diagnosing CAD.

20.
IEEE Trans Cybern ; 51(5): 2761-2772, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-31603809

RESUMO

Current biometrics rely on images obtained from the structural information of physiological characteristics, which is inherently a fatal problem of being vulnerable to spoofing. Here, we studied personal identification using the frequency-domain information based on human body vibration. We developed a bioacoustic frequency spectroscopy system and applied it to the fingers to obtain information on the anatomy, biomechanics, and biomaterial properties of the tissues. As a result, modulated microvibrations propagated through our body could capture a unique spectral trait of a person and the biomechanical transfer characteristics persisted for two months and resulted in 97.16% accuracy of identity authentication in 41 subjects. Ultimately, our method not only eliminates the practical means of creating fake copies of the relevant characteristics but also provides reliable features.


Assuntos
Acústica , Identificação Biométrica/métodos , Análise Espectral/métodos , Algoritmos , Segurança Computacional , Dedos/fisiologia , Humanos , Aprendizado de Máquina , Espectrografia do Som
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