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1.
Sensors (Basel) ; 22(16)2022 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-36015953

RESUMO

The diagnosis of small vessel disease is attracting interest; however, it remains difficult to visualize the microvasculature using 3 Tesla (T) magnetic resonance imaging (MRI). Therefore, this study aimed to visualize the microvascular structure and measure a slow flow on 3T MRI. We developed a microcirculation system using piezoelectric pumps connected to small tubes (0.4, 0.5, 0.8, and 1.0 mm) and evaluated various MR sequences and imaging parameters to identify the most appropriate acquisition parameters. We found that the system could image small structures with a diameter of 0.5 mm or more when using a 1 m-long tube (maximal signal intensity of 241 in 1 mm, 199 in 0.8 mm, and 133 in 0.5 mm). We also found that the highest signal-to-noise ratio (SNR) appeared on 2-dimensional time-of-flight low-resolution imaging and that the flow velocity (10.03 cm/s) was similar to the actual velocity (11.01 cm/s in a flowmeter) when velocity encoding of 30 cm/s was used in a 0.8 mm-diameter tube. In conclusion, this study demonstrates that a microcirculation system can be used to image small vessels. Therefore, our results could serve as a basis for research on vessels' anatomical structure and pathophysiological function in small vessel disease.


Assuntos
Imageamento por Ressonância Magnética , Ultrassom , Imageamento por Ressonância Magnética/métodos , Microcirculação , Microvasos/diagnóstico por imagem , Imagens de Fantasmas , Razão Sinal-Ruído
2.
Sensors (Basel) ; 22(6)2022 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-35336474

RESUMO

This study aimed to develop a magnetic resonance imaging (MRI)-compatible flow delivery system and individualized models of circle of Willis (CoW), which include 50% and 100% blockage in internal carotid artery (ICA50 and ICA100), and 100% blockage in vertebral artery (VA100). Images were obtained using 3D time-of-flight and phase-contrast magnetic resonance angiography (MRA) sequences, and changes in velocity and flow direction at CoW models were analyzed. For the ICA50 and VA100 models, the flow was similar to that of the normal model. For the ICA 50 model, it was found that 50% blockage did not affect cerebral blood flow. For the VA100 model, decreased flow in the posterior cerebral artery and a change to the flow direction in the posterior communicating artery were found. For the ICA100 model, particularly, decreased flow in the ipsilateral middle and anterior cerebral arteries and a change to the flow direction in the ipsilateral anterior cerebral artery of the CoW were found. These results demonstrated that the flow system with various CoW disease models tailored to individual characteristics could be used to predict stroke onset more quickly. For the ICA50 and VA100 models, the possibility of cerebral infarction was significantly lower. On the other hand, for the ICA100 model, there was a high possibility of decreased flow, which could lead to cerebral infarction.


Assuntos
Estenose das Carótidas , Artéria Carótida Interna/diagnóstico por imagem , Circulação Cerebrovascular , Círculo Arterial do Cérebro/diagnóstico por imagem , Círculo Arterial do Cérebro/patologia , Humanos , Imageamento por Ressonância Magnética
3.
Sensors (Basel) ; 21(19)2021 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-34640671

RESUMO

In this study, we proposed a novel pulse wave velocity (PWV) technique to determine cerebrovascular stiffness using a 3-tesla magnetic resonance imaging (MRI) to overcome the various shortcomings of existing PWV techniques for cerebral-artery PWV, such as long scan times and complicated procedures. The technique was developed by combining a simultaneous multi-slice (SMS) excitation pulse sequence with keyhole acquisition and reconstruction (SMS-K). The SMS-K technique for cerebral-artery PWV was evaluated using phantom and human experiments. In the results, common and internal carotid arteries (CCA and ICA) were acquired simultaneously in an image with a high temporal resolution-of 48 ms for one measurement. Vascular signals at 500 time points acquired within 30 s could generate pulse waveforms of CCA and ICA with 26 heartbeats, allowing for the detection of PWV changes over time. The results demonstrated that the SMS-K technique could provide more PWV information with a simple procedure within a short period of time. The procedural convenience and advantages of PWV measurements will make it more appropriate for clinical applications.


Assuntos
Sistema Cardiovascular , Análise de Onda de Pulso , Encéfalo/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética
4.
Int J Legal Med ; 134(3): 963-975, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31418076

RESUMO

DNA quantification is an essential step for successful multiplex short tandem repeat (STR) polymerase chain reactions (PCR), which are used for confirming identities using human genomic DNA. The new DNA quantification kit, named the National Forensic Service Quantification (NFSQ) kit, simultaneously provides total human DNA concentration, human male DNA concentration, and a DNA degradation index (DI) using multiplex TaqMan fluorescent probes. The NFSQ was validated according to developmental validation guidelines from the SWGDAM and MIQE. NFSQ detected up to 0.00128 ng/µL and could detect male DNA up to a 1:8000 ratio of male to female DNA. In PCR inhibitor tests, NFSQ could measure DNA at a concentration of 200 ng/µL of humic acid and 600 µM of hematin. The NFSQ kit showed a DI value trend similar to other qPCR kits. In the reproducibility study, the coefficient of variation of the NFSQ kit was within 10%. The quantitative results of the casework samples obtained using the NFSQ kit were consistent with the STR interpretation results. The NFSQ kit can be useful in the human identification process, as it has detection capabilities similar to those of other comparable quantification kits.


Assuntos
Impressões Digitais de DNA/instrumentação , Análise de Sequência de DNA/métodos , Animais , Feminino , Corantes Fluorescentes , Marcadores Genéticos , Humanos , Masculino , Repetições de Microssatélites , Desnaturação de Ácido Nucleico , Reação em Cadeia da Polimerase em Tempo Real , Reprodutibilidade dos Testes , República da Coreia , Sensibilidade e Especificidade , Especificidade da Espécie
5.
Int J Legal Med ; 134(4): 1551, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32219527

RESUMO

The above article was published with two author names being incorrect. The published paper states "'Hyeun Kyu Yoon and Ki min Seong", whereas it should be "'Hyun Kyu Yoon and Ki Min Seong".

6.
Ergonomics ; 63(11): 1359-1370, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32552557

RESUMO

While working is more comfortable in a supine position and healthier in a standing, most people work in a sitting. However, it is unclear whether there are differences in brain activity efficiency in different postures. Here, we, therefore, compared changes in brain activity across three different postures to determine the optimal posture for performing working memory tasks. Their effect on brain activity was examined using EEG signals together with the information of accuracy and reaction times during 2-back task in 24 subjects. Substantial differences in brain waves were observed at sitting and standing positions compared to the supine, especially in delta waves and frontal lobe, where is known to improve the modulation of brain activity efficiently. Brain efficiency was higher during standing and sitting than in a supine. These findings show that postural changes may affect the efficiency of brain activity during working memory tasks. Practitioner summary: Differences in brain efficiency between different postures during working memory tasks have not been explored. This study suggests that efficiency in several brain areas is higher during sitting and standing than in a supine position. This finding has important implications regarding workplace environments. Furthermore, this result would be useful to improve accomplishment and reduce negative effects of work posture. Abbreviations: EEG: electroencephalogram; PSQI: Pittsburgh sleep quality index; KSS: Karolinska sleepiness scale; FFT: fast fourier transform; ROI: region of interest; ANS: autonomic nervous system; Fp: prefrontal; AF: anterior frontal; frontal; Fz: midline frontal; temporal; central; Cz: midline central; P: parietal; Pz: midline parietal; O: occipital; Oz: midline occipital.


Assuntos
Encéfalo/fisiologia , Memória de Curto Prazo/fisiologia , Postura/fisiologia , Adulto , Eletroencefalografia , Feminino , Humanos , Masculino , Saúde Ocupacional , Inquéritos e Questionários , Análise e Desempenho de Tarefas , Local de Trabalho , Adulto Jovem
7.
Int J Legal Med ; 133(6): 1711-1719, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31388795

RESUMO

Inference of ancestry from biological evidence can provide investigative information, especially for unknown DNA donors. Although tools for predicting ancestry have been developing, ancestry research focusing on populations relevant for South Korea is not common and markers are seldom chosen specifically to differentiate Koreans from other East Asian and South East Asian populations. Here, we report ancestry informative markers (AIMs) for distinguishing six East/South East Asian regional populations: China, Japan, Indonesia, Philippines, South Korea and Thailand. Individual genotypes from these six populations were available in PanSNPdb: The HUGO Pan-Asian SNP Database. To select AIMs, we calculated four population divergence metrics for each SNP: Nei's FST, Rosenberg's Informativeness (In), the average absolute allele frequency difference between populations (δFmean) and the maximum allele frequency difference between populations (δFmax). Based on these values, we selected 100 single nucleotide polymorphisms (SNPs) for distinguishing the six populations, 13 of which exhibited large allele frequency differences between Koreans and non-Koreans. To assess the performance of the AIMs, we performed principal coordinates analysis (PCoA) on the individuals from all six populations and inferred ancestral population clusters using the STRUCTURE program. In conclusion, we found that the selected AIMs can be applied to distinguish the six East/South East Asian groups and we suggest the markers in this study will be helpful to establish ancestry panels for Korea and neighbouring populations.


Assuntos
Povo Asiático/genética , Marcadores Genéticos , Genética Populacional , Polimorfismo de Nucleotídeo Único , Ásia , Impressões Digitais de DNA , Bases de Dados Genéticas , Frequência do Gene , Genótipo , Humanos , Análise de Componente Principal
8.
Int J Legal Med ; 131(5): 1247-1249, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28401303

RESUMO

We genotyped and calculated the forensic parameters of 10 non-CODIS loci and 2 CODIS loci of 990 Korean individuals using the InvestigatorⓇ HDplex kit. No significant deviations from Hardy-Weinberg equilibrium (after Bonferroni correction for multiple testing) or genetic linkage disequilibrium were observed. The calculated matching probability and power of discrimination ranged from 0.0080 to 0.2014, and 0.7986 to 0.9920, respectively. We conclude that the markers of the kit are highly informative corroborative tools for forensic DNA analysis.


Assuntos
Povo Asiático/genética , Impressões Digitais de DNA/instrumentação , Genética Populacional , Repetições de Microssatélites , Reação em Cadeia da Polimerase/instrumentação , Frequência do Gene , Genótipo , Humanos , República da Coreia
9.
Bioprocess Biosyst Eng ; 38(5): 929-37, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25547288

RESUMO

Lignocellulose contains a large amount of cellulose but is recalcitrant to enzymatic hydrolysis, which yields sugars for fuels or chemicals. Various pretreatment methods are used to improve the enzymatic digestibility of cellulose in lignocellulose. Depending on the lignocellulose types and pretreatment methods, biomass compositions and physical properties significantly vary. Therefore, customized enzyme mixtures have to be employed for the efficient hydrolysis of pretreated lignocellulose. Here, using three recombinant model enzymes consisting of endoglucanase, cellobiohydrolase, and xylanase with a fixed amount of ß-glucosidase, the optimal formulation of enzyme mixtures was designed for two differently pretreated rice straws (acid-pretreated or alkali-pretreated rice straw) by the mixture design methodology. As a result, different optimal compositions for the enzyme mixtures were employed depending on the type of pretreatment of rice straw. These results suggest that customized enzyme mixtures for pretreated lignocellulosic biomass are necessary to obtain increased sugar yields and should be considered in the industrial utilization of lignocellulose.


Assuntos
Celulase/química , Lignina/química , Oryza , Biomassa , Carboidratos/química , Celobiose/química , Celulose/química , Celulose 1,4-beta-Celobiosidase/química , Endo-1,4-beta-Xilanases/química , Enzimas/química , Concentração de Íons de Hidrogênio , Hidrólise , Microbiologia Industrial , Caules de Planta , Proteínas Recombinantes/química , Análise de Regressão , Temperatura , beta-Glucosidase/química
10.
J Cell Physiol ; 229(5): 561-71, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24114688

RESUMO

Constitutive androstane receptor (CAR) was originally identified as xenobiotic sensor that regulates the expression of cytochrome P450 genes. However, recent studies suggest that this nuclear receptor is also involved in the regulation of energy metabolism including glucose and lipid homeostasis. This study investigated the role of CAR in the regulation of bone mass in vivo using CAR(-/-) mice. Endogenous mRNA expression of CAR was observed in both primary osteoblasts and osteoclast precursors. CAR(-/-) mice have exhibited significant increase in whole body bone mineral density (BMD) by 9.5% (P < 0.01) and 5.5% (P < 0.05) at 10 and 15 weeks of age, respectively, compared with WT mice in males. Microcomputed tomography analysis of proximal tibia demonstrated a significant increase in trabecular bone volume (62.7%), trabecular number (54.1%) in male CAR(-/-) mice compared with WT mice. However, primary culture of calvarial cells exhibited no significant changes in osteogenic differentiation potential between CAR(-/-) and WT. In addition, the number of tartrate-resistant acid-phosphatase positive osteoclasts in the femur and serum level of CTx was not different between CAR(-/-) and WT mice. The higher BMD and microstructural parameters were not observed in female mice. Interestingly, serum level of testosterone in male CAR(-/-) mice was 2.5-fold higher compared with WT mice and the mRNA expressions of Cyp2b9 and 2b10 in the liver, which regulate testosterone metabolism, were significantly down-regulated in male CAR(-/-) mice. Furthermore, the difference in BMD between CAR(-/-) and WT mice disappeared at 8 weeks after performing orchiectomy. CAR(-/-) mice also exhibited significant increase in serum 1,25(OH)2 D3 levels but Cyp 27B1 which converts 25(OH)D3 to 1,25(OH)2 D3 was significantly down-regulated compared to WT mice. These results suggest that in vivo deletion of CAR resulted in higher bone mass, which appears to be a result from reduced metabolism of testosterone due to down-regulation of Cyp2b.


Assuntos
Densidade Óssea/fisiologia , Receptores Citoplasmáticos e Nucleares/metabolismo , Fosfatase Alcalina/metabolismo , Animais , Hidrocarboneto de Aril Hidroxilases/genética , Hidrocarboneto de Aril Hidroxilases/metabolismo , Densidade Óssea/genética , Células Cultivadas , Receptor Constitutivo de Androstano , Di-Hidroxicolecalciferóis/metabolismo , Feminino , Regulação da Expressão Gênica/fisiologia , Macrófagos/fisiologia , Masculino , Camundongos , Camundongos Knockout , Orquiectomia , Receptores Citoplasmáticos e Nucleares/genética , Testosterona/metabolismo
11.
PLoS One ; 19(7): e0306966, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38990907

RESUMO

The most common risk factor of computer workers is poor head and neck posture. Therefore, upright seated posture has been recommended repeatedly. However, maintaining an upright seated posture is challenging during computer work and induces various complaints, such as fatigue and discomfort, which can interfere working performance. Therefore, it is necessary to maintain an upright posture without complaints or intentional efforts during long-term computer work. Alignment devices are an appropriate maneuver to support postural control for maintaining head-neck orientation and reduce head weight. This study aimed to demonstrate the effects of workstations combined with alignment device on head-neck alignment, muscle properties, comfort and working memory ability in computer workers. Computer workers (n = 37) participated in a total of three sessions (upright computer (CPT_U), upright support computer (CPT_US), traction computer (CPT_T) workstations). The craniovertebral angle, muscles tone and stiffness, visual analog discomfort scale score, 2-back working memory performance, and electroencephalogram signals were measured. All three workstations had a substantial effect on maintaining head-neck alignment (p< 0.001), but only CPT_US showed significant improvement on psychological comfort (p = 0.04) and working memory performance (p = 0.024), which is consistent with an increase in delta power. CPT_U showed the increased beta 2 activity, discomfort, and false rates compared to CPT_US. CPT_T showed increased alpha and beta 2 activity and decreased delta activity, which are not conductive to working memory performance. In conclusion, CPT_US can effectively induce efficient neural oscillations without causing any discomfort by increasing delta and decreasing beta 2 activity for working memory tasks.


Assuntos
Cabeça , Memória de Curto Prazo , Postura , Humanos , Memória de Curto Prazo/fisiologia , Masculino , Adulto , Postura/fisiologia , Cabeça/fisiologia , Computadores , Feminino , Pescoço/fisiologia , Eletroencefalografia , Adulto Jovem
12.
Healthcare (Basel) ; 12(12)2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38921277

RESUMO

Forward head posture (FHP) is a common postural problem experienced by most people. However, its effect on brain activity is still unknown. Accordingly, we aimed to observe changes in brain waves at rest to determine the effect of FHP on the nervous systems. A total of 33 computer users (Male = 17; Female = 16; age = 22.18 ± 1.88) were examined in both FHP and neutral posture. For each session, brain waves were measured for 5 min, and then muscle mechanical properties and cranio-vertebral angle (CVA) were measured. Changes in brain waves between the neutral posture and FHP were prominent in gamma waves. A notable increase was confirmed in the frontal and parietal lobes. That is, eight channels in the frontal lobe and all channels in the parietal lobe showed a significant increase in FHP compared to neutral posture. Additionally, FHP changes were associated with a decrease in CVA (p < 0.001), an increase in levator scapulae tone (Right, p = 0.014; Left, p = 0.001), and an increase in right sternocleidomastoid stiffness (p = 0.002), and a decrease in platysma elasticity (Right, p = 0.039; Left, p = 0.017). The change in CVA was found to have a negative correlation with the gamma activity (P7, p = 0.044; P8, p = 0.004). Therefore, increased gamma wave activity in FHP appears to be related to CVA decrease due to external force that was applied to the nervous system and cervical spine.

13.
Digit Health ; 10: 20552076241282244, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39351310

RESUMO

Objective: This study aimed to determine the effect of postural support workstation on inducing effective brain activity during rest. Methods: Thirty-five healthy digital overusers were recruited as participants. We conducted two interventions of head weight support traction (ST) and conventional traction (CT) strength on all participants in random order. Participants' arousal levels and psychological comfort were assessed. In addition, changes in brain activity caused by traction were confirmed by measuring changes in resting state brain activity using an electroencephalogram (EEG). Results: Under the ST condition, psychological comfort improved while alert levels were maintained. In addition the resting brain activity of EEG was characterized by strong focused attention and relaxed activity, as evidenced by increased alpha waves throughout the brain. By contrast, in the CT condition, no significant improvement in comfort was observed. Furthermore, high-frequency brain activity, such as beta 3 and gamma waves, was observed across the entire brain regions. Conclusion: In this study, the ST workstation was shown to effectively improve resting attention and psychological comfort in individuals who excessively use digital devices by inducing resting state alpha activity without stimulating high-frequency brain waves, while maintaining an upright posture with appropriate traction.

14.
Healthcare (Basel) ; 12(19)2024 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-39408088

RESUMO

OBJECTIVES: An excessive and abrupt increase in cerebral blood flow may cause blood vessel damage, leading to stroke. Therefore, appropriate methods to immediately regulate blood flow velocity are important. Through an analysis of 31 healthy adults, we therefore investigated whether stimulating the common carotid artery (CCA) using transcutaneous electrical nerve stimulation (TENS) could modulate blood flow velocity in the CCA. METHODS: Three stimulation intensities (below-threshold, threshold, and above-threshold) were applied in a random order. Blood velocity changes were examined by the measurement of peak systolic velocity (PSV) with Doppler ultrasound before, during, and after TENS stimulation. To evaluate arterial stiffness, pulse wave velocity (PWV) was calculated using CCA diameter, and blood pressure was measured before and after stimulation. RESULTS: PSV changes in the below-threshold level were significant (p = 0.028). The PSV after below-threshold stimulation was significantly decreased by 2.23% compared to that before stimulation (p = 0.031). PWV showed no significant differences; however, a nonsignificant increase was observed immediately after stimulation only in the above-threshold condition. Above-threshold stimulation can increase vascular tone by activating the sympathetic nerve, possibly triggering vasoconstriction. CONCLUSIONS: A decrease in blood flow velocity may not be expected upon the above-threshold stimulation. In contrast, the below-threshold stimulation immediately reduces blood flow velocity, without significantly affecting hemodynamic function, such as arterial flexibility. Therefore, this short-term and low electrical stimulation technique can help to lower vascular resistance and prevent vascular damage from rapid blood flow velocity.

15.
PLoS One ; 19(9): e0308866, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39331633

RESUMO

The Valsalva maneuver (VM), commonly used to assess cardiovascular and autonomic nervous system functions, can induce changes in hemodynamic function that may affect cerebral vascular functionality, such as arterial elasticity. This study aimed to investigate the effects of low-pressure VM on cerebral arterial stiffness and cerebral vascular dynamics. Thirty-one healthy young participants (average age 21.58±1.72 years) were recruited for this study. These participants were instructed to maintain an expiratory pressure of 30-35 mmHg for 15 seconds. We measured the vasoconstriction and vasodilation diameters (VCD and VDD) of the common carotid artery (CCA), as well as systolic and diastolic blood pressures (SBP and DBP), before and after VM (PRE_VM and POST_VM). Additionally, we assessed mean arterial pressure (MAP), pulse pressure (PP), pulse wave velocity (PWV), and arterial stiffness. Our findings revealed significant increases in both the VCD and VDD of the CCA (2.15%, p = 0.039 and 4.55%, p<0.001, respectively), MAP (1.67%, p = 0.049), and DBP (1.10%, p = 0.029) following low-pressure VM. SBP showed an increasing trend, but this was not statistically significant (p = 0.108). Interestingly, we observed significant decreases in arterial stiffness and PWV in POST_VM when comparing with PRE_VM (p<0.001 and p<0.001, respectively). In conclusion, our study demonstrated the effectiveness of low-pressure VM in reducing the PWV and stiffness of the CCA. This suggests that low-pressure VM can be a simple and cost-effective method to reduce cerebrovascular stiffness in a brief interval, without the need for specific environmental conditions.


Assuntos
Pressão Sanguínea , Análise de Onda de Pulso , Manobra de Valsalva , Rigidez Vascular , Humanos , Rigidez Vascular/fisiologia , Análise de Onda de Pulso/métodos , Masculino , Manobra de Valsalva/fisiologia , Adulto Jovem , Feminino , Pressão Sanguínea/fisiologia , Adulto , Artérias Cerebrais/fisiologia , Artéria Carótida Primitiva/fisiologia , Vasodilatação/fisiologia , Vasoconstrição/fisiologia
16.
J Forensic Sci ; 69(5): 1578-1586, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38275209

RESUMO

The DNA intelligence tool, DNA methylation-based age prediction, can help identify disaster victims and suspects in criminal investigations. In this study, we developed a costal cartilage-based age prediction tool that uses massive parallel sequencing (MPS) of age-associated DNA methylation markers. Costal cartilage samples were obtained from 85 deceased Koreans, aged between 26 and 89 years. An MPS library was prepared using two rounds of multiplex polymerase chain reaction of nine genes (TMEM51, MIR29B2CHG, EDARADD, FHL2, TRIM59, ELOVL2, KLF14, ASPA, and PDE4C). The DNA methylation status of 45 CpG sites was determined and used to train an age prediction model via stepwise regression analysis. Nine CpGs in MIR29B2CHG, FHL2, TRIM59, ELOVL2, KLF14, and ASPA were selected for regression model construction. A leave-one-out cross-validation analysis revealed the high performance of the age prediction model, with a mean absolute error (MAE) and root mean square error of 4.97 and 6.43 years, respectively. Additionally, our model showed good performance with a MAE of 6.06 years in the analysis of data of 181 costal cartilage samples collected from Europeans. Our model effectively estimates the age of deceased individuals using costal cartilage samples; therefore, it can be a valuable forensic tool for disaster victim and missing person investigation.


Assuntos
Cartilagem Costal , Metilação de DNA , Vítimas de Desastres , Humanos , Pessoa de Meia-Idade , Idoso , Adulto , Masculino , Feminino , Idoso de 80 Anos ou mais , Ilhas de CpG/genética , Sequenciamento de Nucleotídeos em Larga Escala , Análise de Regressão , Epigênese Genética , Marcadores Genéticos , Genética Forense/métodos , Reação em Cadeia da Polimerase Multiplex , Determinação da Idade pelo Esqueleto/métodos
17.
Leg Med (Tokyo) ; 69: 102447, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38640874

RESUMO

This study aimed to estimate A-STR mutation rates in 2,317 Korean parent-child trios by examining 20 Combined DNA Index System (CODIS) core loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, CSF1PO, FGA, TH01, TPOX, vWA, D1S1656, D2S441, D2S1338, D10S1248, D12S391, D19S433, and D22S1045) and three non-CODIS loci (Penta E, Penta D, and SE33). Locus-specific mutation rate estimates varied from 0.00 to 8.63 × 10-3 per generation, with an average mutation rate of 1.62 × 10-3 (95 % CI, 1.39-1.88 × 10-3). We also combined data from previous studies to obtain comprehensive genetic values for the Korean population, and the average mutation rate was 1.59 × 10-3 (95 % CI, 1.38-1.82 × 10-3). Single-step mutations (95.69 %) and double-step mutations (3.35 %) were observed in the mutation pattern analysis, and cases expected to have multi-step mutations (0.96 %) were also observed. Large-sized alleles exhibited more loss mutations than gain mutations, and paternal mutations (62.68 %) were more frequently observed than maternal mutations (19.62 %). The calculated values and features of the 23 A-STRs explored in this study are expected to play a crucial role in establishing criteria for forensic genetic interpretation.


Assuntos
Repetições de Microssatélites , Paternidade , Feminino , Humanos , Masculino , Análise Mutacional de DNA/métodos , Frequência do Gene , Genética Populacional/métodos , Taxa de Mutação , República da Coreia , População do Leste Asiático/genética
18.
Forensic Sci Int Genet ; 65: 102875, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37084624

RESUMO

Y-chromosomal short tandem repeats (Y-STRs) have been widely used in forensic genetics, and accurate knowledge of mutation rates at Y-STR loci is essential in kinship analysis. The main aim of this study was to estimate Y-STR mutation rates in Korean males. To obtain locus-specific mutations and haplotypes at 23 Y-STRs, we analyzed samples from 620 Korean father-son pairs. In addition, we also analyzed 476 unrelated individuals using the PowerPlex® Y23 System, with the aim of augmenting the available data for the Korean population. The PowerPlex® Y23 system facilitates analysis of the 23 Y-STR loci (DYS576, DYS570, DYS458, DYS635, DYS389 II, DYS549, DYS385, DYS481, DYS439, DYS456, DYS389 I, DYS19, DYS393, DYS391, DYS533, DYS437, DYS390, Y GATA H4, DYS448, DYS438, DYS392, and DYS643). Locus-specific mutation rate estimates varied from 0.00 to 8.06 × 10-3 per generation, with an average mutation rate of 2.17 × 10-3 (95% CI, 1.5-3.1 × 10-3). To obtain comprehensive genetic values for the Korean population, we combined data obtained in this study with previously reported values, thereby enabling us to estimate the locus-specific mutation rates regarding 22,711 allele transmissions. By combining these data, we obtained an overall average mutation rate of 2.91 × 10-3 (95% CI, 2.3-3.7 × 10-3). In addition, among the 476 unrelated Korean males, we detected 467 different haplotypes, with an overall haplotype diversity value of 0.9999. By extracting haplotypes of Y-STRs described in previous literature on 23 Y-STR reported in Korea, we obtained gene diversities for 1133 Korean individuals. We believe that the values and characteristics of the 23 Y-STRs analyzed in this study will contribute to establishing criteria for forensic genetic interpretation, including kinship analysis.


Assuntos
Taxa de Mutação , Núcleo Familiar , Masculino , Humanos , Haplótipos , Cromossomos Humanos Y , Repetições de Microssatélites , Pai , República da Coreia , Genética Populacional , Impressões Digitais de DNA
19.
Genes (Basel) ; 14(11)2023 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-38002929

RESUMO

The study of gender markers is essential in forensic genetic analysis. Mutations in the X or Y homologs of the amelogenin gene can be misleading, resulting in serious mistakes in forensic genetic analysis. We recently discovered two male cases of the X homolog of the amelogenin (AMELX) allelic dropout while analyzing short tandem repeat genotypes obtained from crime scene evidence. Subsequently, we evaluated the molecular characteristics of AMELX allelic dropout in this study. We used two previously reported amelogenin primers to verify a half level of amelogenin gene amplification intensity in the two male cases, which we confirmed was caused by AMELX allelic dropout. We then characterized the point mutation using Sanger sequencing and designed mutation-specific primers that could overcome AMELX allelic dropout. Short tandem repeat genotyping analysis confirmed that the AMELX allelic dropout was recovered by the mutation-specific primer designed specifically for this case. The sequencing of the AMELX allele revealed a single-point variant from A→G at base position 7 downstream from the 3' end in the amelogenin forward primer-binding region. This point mutation was identically found in two different male cases, resulting in AMELX allelic dropout. To our knowledge, these mutations and the X homolog amplification failure of amelogenin have not been reported in the Korean population. Our study provides a reliable approach to AMELX allelic dropout due to rare case mutations and could enable the better interpretation of gender markers for forensic samples.


Assuntos
Amelogenina , Mutação Puntual , Humanos , Masculino , Alelos , Amelogenina/genética , Povo Asiático
20.
Aviat Space Environ Med ; 83(9): 896-8, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22946354

RESUMO

BACKGROUND: Plain chest radiographs and pulmonary function tests have been used for pulmonary screening for flight duties of aircrews of the Republic of Korea Air Force. However, the screening accuracy of plain chest radiographs is controversial. Chest CT imaging with low-dose protocol (LDCT) improves detection of intra-thoracic abnormalities compared to plain chest radiographs. The aim of this study was to assess the influence of LDCT on flight duties of aircrews and to investigate their radiologic findings. METHODS: From June 2009 to May 2011, the Aerospace Medical Center screened asymptomatic subjects 40 yr of age or older to evaluate intra-thoracic abnormalities using LDCT. The abnormal findings, including types and frequency, were recorded and the aircrew's flight duties were also recorded. RESULTS: This study included 536 subjects. No abnormal findings were found in 387 (72.2%) subjects. Abnormal findings related to pulmonary nodules were detected in 123 (23.00%) subjects. Air-trapping lesions were found in 33 (6.1%) subjects. One subject had a mediastinal tumor. Changes of flight duty were made in 26 (4.9%) subjects on the basis of LDCT findings. No subject was permanently disqualified for flight duty. CONCLUSIONS: Pulmonary screening with LDCT could detect many intra-thoracic abnormalities. LDCT was especially useful in the detection of bullae and bleb, and the flight duties of all subjects with bullae and bleb were changed.


Assuntos
Pneumopatias/diagnóstico , Programas de Rastreamento , Radiografia Torácica , Tomografia Computadorizada Espiral , Adulto , Medicina Aeroespacial , Humanos , Masculino , Pessoa de Meia-Idade , Doses de Radiação , Estudos Retrospectivos
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