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2.
Ann Lab Med ; 42(2): 141-149, 2022 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-34635607

RESUMO

Standardization of cell-free DNA (cfDNA) testing processes is necessary to obtain clinically reliable results. The pre-analytical phase of cfDNA testing greatly influences the results because of the low proportion and stability of circulating tumor DNA (ctDNA). In this review, we provide evidence-based clinical practice guidelines for pre-analytical phase procedures of plasma epidermal growth factor receptor gene (EGFR) variant testing. Specific recommendations for pre-analytical procedures were proposed based on evidence from the literature and our experimental data. Standardization of pre-analytical procedures can improve the analytical performance of cfDNA testing.


Assuntos
Ácidos Nucleicos Livres , DNA Tumoral Circulante , Receptores ErbB/genética , Humanos
3.
Ann Lab Med ; 42(2): 274-277, 2022 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-34635619

RESUMO

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disease caused by abnormal CAG repeat expansion in the ataxin 1 gene (ATXN1). The presence of CAT interruption(s) is important for diagnosing SCA1 in patients with 39-44 repeat alleles, as only uninterrupted alleles are considered abnormal. Determining the CAT interruption status might also be important for patients with >44 repeats, as the length of the longest uninterrupted CAG repeat stretch has been correlated with age at SCA1 onset. We detected CAT interruption(s) in the archived samples of Korean SCA1 patients using a traditional restriction enzyme method and validated the usefulness of a fluorescence-based tethering PCR procedure. Among the 2,312 alleles analyzed from 1,156 patients, we found 17 expanded alleles with ≥39 repeats, 71% of which harbored 39-44 repeats. Restriction enzyme method of six samples (four with 39-44 repeats and two with >44 repeats) revealed that none of the expanded alleles had CAT interruption(s). Tethering PCR showed the characteristic electropherogram pattern expected without CAT interruption(s). Along with the enzyme restriction method, tethering PCR can be applied to determine the number of allele repeats and provide information on CAT interruption(s) in clinical laboratories.


Assuntos
Ataxina-1 , Ataxias Espinocerebelares , Degenerações Espinocerebelares , Alelos , Ataxina-1/genética , Humanos , Reação em Cadeia da Polimerase , República da Coreia , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Degenerações Espinocerebelares/genética
4.
Cancer Res Treat ; 2021 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-34645131

RESUMO

Purpose: Double heterozygosity (DH) for BRCA1 and BRCA2 variant is very rare with only a few cases reported, and most those in Caucasians. In this article, we present seven unrelated cases of DH for BRCA1/2 identified from a single institution in Korea, and describe the characteristics and phenotype of DH individuals compared to those with a single BRCA variant. Materials and Methods: This study included 27,678 patients diagnosed with breast cancer and surgically treated at Samsung Medical Center (SMC) between January 2008 and June 2020. In total, 4,215 high-risk breast cancer patients were tested for the BRCA1/2 genes, and electronic medical records from 456 cases with pathogenic/likely pathogenic variants (PVs/LPVs) were reviewed. Results: A younger mean age at diagnosis was associated with DH than a single variant of BRCA1/2. More triple-negative breast cancer (TNBC) and higher nuclear and histologic grade cancer occurred with DH than BRCA2 variant. All 7 cases of DH were unrelated, and their mutation combinations were different. There were no Ashkenazi founder variants detected. Conclusion: We suggest that patients with DH for BRCA1/2 variants develop breast cancer at a younger age, but the histopathologic features are similar to those of BRCA1.

5.
Cancer Sci ; 2021 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-34657357

RESUMO

This study was performed to investigate the prevalence, clinical characteristics and treatment response according to BRCA1 and BRCA2 (BRCA) mutations in Korean patients with epithelial ovarian cancer (EOC). Two-hundred ninety-eight Korean women diagnosed with high-grade serous and/or endometrioid EOC from 2010 to 2015 were tested for germline and 86 specimens for somatic BRCA mutations, regardless of the family history. Clinical characteristics including survival outcomes were compared in patients with and without BRCA mutations (NCT02963688). A total of 43 different germline BRCA mutations were identified in 78 patients among 298 patients (26.2%). Somatic BRCA mutations were identified in 11 (12.8%) patients among patients without germline BRCA mutations. Haplotype analysis demonstrated no founder mutations in our Korean patient cohort. Insignificant differences in age at diagnosis, primary site, and residual disease after surgery were observed between patients with and without BRCA mutations. In multivariate analysis for OS, the presence of BRCA mutation was significantly associated with OS (p=0.049) in addition to platinum sensitivity (p<0.001) indicating it is independent prognostic factor for survival regardless of platinum sensitivity to first-line chemotherapy. In addition, higher response rate to subsequent chemotherapy after recurrence was observed in EOC patients with BRCA mutations resulting in better OS. In current study, the prevalence of BRCA mutations in Korean patients with EOC was higher than previously reported in other ethnic groups. We demonstrated characteristics and treatment response in Korean EOC patients with BRCA mutations. These findings may provide valuable information to be considered in future clinical trials including Asian patients.

6.
Sensors (Basel) ; 21(17)2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34502605

RESUMO

Recently, as the demand for technological advancement in the field of autonomous driving and smart video surveillance is gradually increasing, considerable progress in multi-object tracking using deep neural networks has been achieved, and its application field is also expanding. However, various problems have not been fully addressed owing to the inherent limitations in video cameras, such as the tracking of objects in an occluded environment. Therefore, in this study, we propose a density-based object tracking technique redesigned based on DBSCAN, which has high robustness against noise and is excellent for nonlinear clustering. Moreover, it improves the noise vulnerability inherent to multi-object tracking, reduces the difficulty of trajectory separation, and facilitates real-time processing through simple structural expansion. Through performance test evaluation, it was confirmed that by using the proposed technique, several performance indices were improved compared to the existing tracking technique. In particular, when added as a post processor to the existing tracker, the tracking performance owing to noise suppression was considerably improved by more than 10%. Thus, the proposed method can be applied in industrial environments, such as real pedestrian analysis and surveillance security systems.

7.
J Virol Methods ; 298: 114304, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34592335

RESUMO

The potential co-circulation of SARS-CoV-2, influenza, and respiratory syncytial virus (RSV) could pose an unprecedented challenge to healthcare systems worldwide. Here, we compared the performance of the PowerChek SARS-CoV-2, Influenza A&B, RSV Multiplex Real-time PCR Kit (PowerChek) for simultaneous detection of SARS-CoV-2, influenza A and B, and respiratory syncytial virus with that of BioFire Respiratory Panel 2.1 (RP2.1) using 175 nasopharyngeal swab (NPS) specimens. Positive percent agreement and negative percent agreement of the PowerChek assay compared to RP2.1 were as follows: 100 % (40/40) and 100 % (135/135) for SARS-CoV-2; 100 % (39/39) and 100 % (136/136) for influenza A; 100 % (35/35) and 100 % (140/140) for influenza B; and 93.1 % (27/29) and 100 % (146/146) for RSV, respectively. The limit of detection (LOD) was accessed using RNA standards for each virus, and the LOD values of the PowerChek assay for SARS-CoV-2, influenza A and B, and RSV were 0.36, 1.24, 0.09, and 0.63 copies/µL, respectively. Our results demonstrate that the PowerChek assay is sensitive and accurate for detection of SARS-CoV-2, influenza A and B, and RSV, suggesting that this assay can be a valuable diagnostic tool when SARS-CoV-2, influenza, and RSV are co-circulating.

8.
Nanomaterials (Basel) ; 11(9)2021 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-34578760

RESUMO

We studied the variation in electrical conductivity of exfoliated RuO2 nanosheets and the modulation in the contact resistance of individual nanosheet devices using charge transfer doping effects based on surface metal nanoparticle decorations. The electrical conductivity in the monolayer and bilayer RuO2 nanosheets gradually increased due to the surface decoration of Cu, and subsequently Ag, nanoparticles. We obtained contact resistances between the nanosheet and electrodes using the four-point and two-point probe techniques. Moreover, the contact resistances decreased during the surface decoration processes. We established that the surface decoration of metal nanoparticles is a suitable method for external contact engineering and the modulation of the internal properties of nanomaterials.

9.
Genes (Basel) ; 12(9)2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34573290

RESUMO

Neurofibromatosis type 1, characterized by neurofibromas and café-au-lait macules, is one of the most common genetic disorders caused by pathogenic NF1 variants. Because of the high proportion of splicing mutations in NF1, identifying variants that alter splicing may be an essential issue for laboratories. Here, we investigated the sensitivity and specificity of SpliceAI, a recently introduced in silico splicing prediction algorithm in conjunction with other in silico tools. We evaluated 285 NF1 variants identified from 653 patients. The effect on variants on splicing alteration was confirmed by complementary DNA sequencing followed by genomic DNA sequencing. For in silico prediction of splicing effects, we used SpliceAI, MaxEntScan (MES), and Splice Site Finder-like (SSF). The sensitivity and specificity of SpliceAI were 94.5% and 94.3%, respectively, with a cut-off value of Δ Score > 0.22. The area under the curve of SpliceAI was 0.975 (p < 0.0001). Combined analysis of MES/SSF showed a sensitivity of 83.6% and specificity of 82.5%. The concordance rate between SpliceAI and MES/SSF was 84.2%. SpliceAI showed better performance for the prediction of splicing alteration for NF1 variants compared with MES/SSF. As a convenient web-based tool, SpliceAI may be helpful in clinical laboratories conducting DNA-based NF1 sequencing.

10.
Nat Commun ; 12(1): 5008, 2021 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-34429436

RESUMO

Capabilities for continuous monitoring of pressures and temperatures at critical skin interfaces can help to guide care strategies that minimize the potential for pressure injuries in hospitalized patients or in individuals confined to the bed. This paper introduces a soft, skin-mountable class of sensor system for this purpose. The design includes a pressure-responsive element based on membrane deflection and a battery-free, wireless mode of operation capable of multi-site measurements at strategic locations across the body. Such devices yield continuous, simultaneous readings of pressure and temperature in a sequential readout scheme from a pair of primary antennas mounted under the bedding and connected to a wireless reader and a multiplexer located at the bedside. Experimental evaluation of the sensor and the complete system includes benchtop measurements and numerical simulations of the key features. Clinical trials involving two hemiplegic patients and a tetraplegic patient demonstrate the feasibility, functionality and long-term stability of this technology in operating hospital settings.


Assuntos
Técnicas Biossensoriais/métodos , Fontes de Energia Elétrica , Pressão , Temperatura , Tecnologia sem Fio , Adulto , Idoso , Idoso de 80 Anos ou mais , Técnicas Biossensoriais/instrumentação , Desenho de Equipamento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica , Pele , Termografia/instrumentação , Termografia/métodos
11.
Nanomaterials (Basel) ; 11(7)2021 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-34361215

RESUMO

In this study, highly porous carbon fiber was prepared for hydrogen storage. Porous carbon fiber (PCF) and activated porous carbon fiber (APCF) were derived by carbonization and chemical activation after selectively removing polyvinyl alcohol from a bi-component fiber composed of polyvinyl alcohol and polyacrylonitrile (PAN). The chemical activation created more pores on the surface of the PCF, and consequently, highly porous APCF was obtained with an improved BET surface area (3058 m2 g-1) and micropore volume (1.18 cm3 g-1) compare to those of the carbon fiber, which was prepared by calcination of monocomponent PAN. APCF was revealed to be very efficient for hydrogen storage, its hydrogen capacity of 5.14 wt% at 77 K and 10 MPa. Such hydrogen storage capacity is much higher than that of activated carbon fibers reported previously. To further enhance hydrogen storage capacity, catalytic Pd nanoparticles were deposited on the surface of the APCF. The Pd-deposited APCF exhibits a high hydrogen storage capacity of 5.45 wt% at 77 K and 10 MPa. The results demonstrate the potential of Pd-deposited APCF for efficient hydrogen storage.

12.
Case Rep Nephrol Dial ; 11(2): 210-213, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34414213

RESUMO

Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic. Her fiancé was a known Gitelman syndrome patient who was previously diagnosed with 2 pathogenic variants in SLC12A3. In advance of marriage and future family planning, she wanted to perform genetic testing of SLC12A3. A silent exonic variant c.1050G>A was found, and multiple splice site in silico algorithms predicted this variant to have potential alteration of splicing. This variant was classified as "variant of uncertain significance," and RNA splicing analysis was additionally performed. RNA splicing analysis showed aberrant splicing of exon 7-8 skipping. The result points out the potential pathogenicity of this variant, which should be considered a candidate of variant reclassification in the future. We highly recommend the performance of additional RNA splicing analysis, especially for silent variants predicted to have potential alteration of splicing.

13.
Biomolecules ; 11(6)2021 06 05.
Artigo em Inglês | MEDLINE | ID: mdl-34198783

RESUMO

Foot-and-mouth disease virus (FMDV) is a highly contagious disease that affects cloven-hoofed animals. The traditional diagnostic methods for FMDV have several drawbacks such as cross-reactivity, low sensitivity, and low selectivity. To overcome these drawbacks, we present an optical and electrochemical dual-modal approach for the specific detection of FMDV serotypes O and A by utilizing a magnetic nanoparticle labeling technique with resorufin ß-d-glucopyranoside (res-ß-glc) and ß-glucosidase (ß-glc), without the use of typical lateral flow assay or polymerase chain reaction. FMDV serotypes O and A were reacted with pan-FMDV antibodies that recognize all seven FMDV serotypes (O, A, C, Asia 1, SAT 1, SAT 2, and SAT 3). The antigen-antibody complex was then immobilized on magnetic nanoparticles and reacted with ß-glc-conjugated FMDV type O or type A antibodies. Subsequently, the addition of res-ß-glc resulted in the release of fluorescent resorufin and glucose owing to catalytic hydrolysis by ß-glc. The detection limit of fluorescent signals using a fluorescence spectrophotometer was estimated to be log(6.7) and log(5.9) copies/mL for FMDV type O and A, respectively, while that of electrochemical signals using a glucometer was estimated to be log(6.9) and log(6.1) copies/mL for FMDV type O and A, respectively. Compared with a commercially available lateral flow assay diagnostic kit for immunochromatographic detection of FMDV type O and A, this dual-modal detection platform offers approximately four-fold greater sensitivity. This highly sensitive and accurate dual-modal detection method can be used for effective disease diagnosis and treatment, and will find application in the early-stage diagnosis of viral diseases and next-generation diagnostic platforms.


Assuntos
Técnicas Eletroquímicas/métodos , Vírus da Febre Aftosa/química , Vírus da Febre Aftosa/metabolismo , Sorogrupo , Sorotipagem/métodos , Animais , Anticorpos Antivirais/análise , Anticorpos Antivirais/sangue , Vírus da Febre Aftosa/isolamento & purificação , Humanos , Nanopartículas Magnéticas de Óxido de Ferro/análise , Nanopartículas Magnéticas de Óxido de Ferro/química
14.
Diagnostics (Basel) ; 11(6)2021 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-34199654

RESUMO

Liquid biopsies have increasingly shown clinical utility. Although next-generation sequencing has been widely used for the detection of somatic mutations from plasma, performance characteristics vary by platform. Therefore, thorough validation is mandatory for clinical use. This study aimed to evaluate the analytical validity of the Oncomine Pan-Cancer Cell-Free Assay. A massively parallel sequencing for the assay was performed using the Ion S5 XL System with Ion 540 kit. The analytical sensitivity and precision were evaluated using pre-characterized reference materials. The specificity was evaluated using plasma from healthy subjects. A comparison with the Cobas EGFR Mutation Test v2 was performed using reference materials and plasma from lung cancer patients. For SNVs and short indels, the analytical sensitivities at variant allele frequencies (VAFs) of 0.1%, 0.5%, and 1% were 50%, 93.4%, and 100% with 20 ng of input, respectively. The overall precision of the true positive variants was 98% at a VAF of 1% with 20 ng input. The assay showed a similar sensitivity to that of the Cobas EGFR Mutation Test v2 at a VAF of 0.5% with 20 ng of input and 100% concordance on clinical samples. The Pan-Cancer Cell-Free Assay can be applied to detect EGFR mutations in advanced lung cancer patients, although follow-up studies will be needed to evaluate the analytical validity for other types of genes and aberrations using clinical samples.

15.
J Immunol Res ; 2021: 2183427, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34307692

RESUMO

Korean mistletoe has anti-inflammatory and antioxidant functions and may be a useful training supplement. We investigated the effect of Korean mistletoe extract (KME) on inflammatory markers after high-intensity exercise by 20 university male rowers (KME group vs. CON group) consuming 110 mL KME/dose (2 times a day over 8 weeks). Blood samples were collected for measurement of serum cytokine levels at baseline, immediately after exercise, and following 30 minutes of recovery. Interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-α), and C-reactive protein (CRP) were used as markers for inflammation. After supplementation, IL-6 and TNF-α levels were significantly lowered in the KME group than in the CON group at baseline, immediately after exercise, and following 30 minutes of recovery. KME can reduce high-strength exercise-induced increases in the levels of serum inflammatory cytokines in active individuals and improve anti-inflammatory functions.

16.
Cancers (Basel) ; 13(9)2021 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-34063308

RESUMO

In this study, we performed a comprehensive analysis of BRCA1/2 variants and associated cancer risk in Korean patients considering two aspects: variants of uncertain significance (VUS) and pathogenic or likely pathogenic variants (PLPVs) in BRCA1 and BRCA2. This study included 5433 Korean participants who were tested for BRCA1/2 genes. The BRCA1/2 variants were classified following the standards/guidelines for interpretation of genetic variants and using a multifactorial probability-based approach. In Korea, 15.8% of participants had BRCA1 or BRCA2 PLPVs. To estimate the additional sample numbers needed to resolve unclassified status, we applied a simulation analysis. The simulation study for VUS showed that the smaller the number of samples, the more the posterior probability was affected by the prior probability; in addition, more samples for BRCA2 VUS than those of BRCA1 VUS were required to resolve the unclassified status, and the presence of clinical information associated with their VUS was an important factor. The cumulative lifetime breast cancer risk was 59.1% (95% CI: 44.1-73.6%) for BRCA1 and 58.3% (95% CI: 43.2-73.0%) for BRCA2 carriers. The cumulative lifetime ovarian cancer risk was estimated to be 36.9% (95% CI: 23.4-53.9%) for BRCA1 and 14.9% (95% CI: 7.4-28.5%) for BRCA2 carriers.

17.
Int J Mol Sci ; 22(9)2021 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-34063731

RESUMO

Bone homeostasis plays a major role in supporting and protecting various organs as well as a body structure by maintaining the balance of activities of the osteoblasts and osteoclasts. Unbalanced differentiation and functions of these cells result in various skeletal diseases, such as osteoporosis, osteopetrosis, and Paget's disease. Although various synthetic nanomaterials have been developed for bone imaging and therapy through the chemical conjugation, they are associated with serious drawbacks, including heterogeneity and random orientation, in turn resulting in low efficiency. Here, we report the synthesis of bone-targeting ferritin nanoparticles for bone imaging. Ferritin, which is a globular protein composed of 24 subunits, was employed as a carrier molecule. Bone-targeting peptides that have been reported to specifically bind to osteoblast and hydroxyapatite were genetically fused to the N-terminus of the heavy subunit of human ferritin in such a way that the peptides faced outwards. Ferritin nanoparticles with fused bone-targeting peptides were also conjugated with fluorescent dyes to assess their binding ability using osteoblast imaging and a hydroxyapatite binding assay; the results showed their specific binding with osteoblasts and hydroxyapatite. Using in vivo analysis, a specific fluorescent signal from the lower limb was observed, demonstrating a highly selective affinity of the modified nanoparticles for the bone tissue. These promising results indicate a specific binding ability of the nanoscale targeting system to the bone tissue, which might potentially be used for bone disease therapy in future clinical applications.


Assuntos
Ferritinas/genética , Nanopartículas Metálicas/química , Osteoblastos/efeitos dos fármacos , Peptídeos/genética , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/ultraestrutura , Diferenciação Celular/efeitos dos fármacos , Durapatita/química , Ferritinas/química , Ferritinas/farmacologia , Humanos , Imagem Molecular , Osteoblastos/ultraestrutura , Osteoclastos/efeitos dos fármacos , Peptídeos/química , Peptídeos/farmacologia
18.
J Med Food ; 24(5): 464-478, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34009023

RESUMO

Type 2 diabetes (T2D) is a threaten human health problem, and accompanied by hyperglycemia and disorder of insulin secretion, is a major cause of abnormalities in maintaining blood glucose homeostasis. Also, low-grade inflammation, as well as insulin resistance (IR), is a common feature in patients with T2D. Numerous causes of the outbreak of T2D have been suggested by researchers, who indicate that genetic background and epigenetic predisposition, such as overnutrition and deficient physical activity, hasten the promotion of T2D milieu. Orostachys japonicus A. Berger (O. japonicus) is a herbal and remedial plant whose various activities include hemostatic, antidotal, febrile, and anti-inflammatory. Hence, we designed to evaluate the antidiabetic efficacy of ethanol extracts of O. japonicus (OJE). Six-week-old C57BL/Ksj-db/db (db/db) mice were used. The results showed that mice given various concentrations of OJE (0, 50, 100, and 200 mg/kg per day) for 8 weeks showed significantly reduced hyperglycemia, IR, and liver injury, confirmed by measuring diabetic parameters, serum, and hepatic biochemicals. Furthermore, the treatment of OJE markedly decreased the mRNA levels of proinflammatory cytokines, lipid accumulation, and gluconeogenesis-related genes. Consistently, western blot analysis indicated that mice treated with OJE showed increased levels of phospho-c-Jun N-terminal kinase, phospho-Akt, glucose transporters 2 and 4 (GLUT2 and GLUT4) in T2D mice. Likewise, much the same results were obtained in in vitro experiments. Taken together, OJE had hopeful advantage in sustaining the glucose homeostasis and diminishing IR, and could be a safe alternative remedy for treating T2D.


Assuntos
Crassulaceae , Diabetes Mellitus Tipo 2 , Resistência à Insulina , Animais , Glicemia , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/genética , Etanol , Humanos , Inflamação/tratamento farmacológico , Insulina , Camundongos , Camundongos Endogâmicos C57BL , Extratos Vegetais/farmacologia
19.
Transl Psychiatry ; 11(1): 296, 2021 05 19.
Artigo em Inglês | MEDLINE | ID: mdl-34011927

RESUMO

Alzheimer's disease (AD) is a progressive neurodegenerative disease associated with a complex genetic etiology. Besides the apolipoprotein E ε4 (APOE ε4) allele, a few dozen other genetic loci associated with AD have been identified through genome-wide association studies (GWAS) conducted mainly in individuals of European ancestry. Recently, several GWAS performed in other ethnic groups have shown the importance of replicating studies that identify previously established risk loci and searching for novel risk loci. APOE-stratified GWAS have yielded novel AD risk loci that might be masked by, or be dependent on, APOE alleles. We performed whole-genome sequencing (WGS) on DNA from blood samples of 331 AD patients and 169 elderly controls of Korean ethnicity who were APOE ε4 carriers. Based on WGS data, we designed a customized AD chip (cAD chip) for further analysis on an independent set of 543 AD patients and 894 elderly controls of the same ethnicity, regardless of their APOE ε4 allele status. Combined analysis of WGS and cAD chip data revealed that SNPs rs1890078 (P = 6.64E-07) and rs12594991 (P = 2.03E-07) in SORCS1 and CHD2 genes, respectively, are novel genetic variants among APOE ε4 carriers in the Korean population. In addition, nine possible novel variants that were rare in individuals of European ancestry but common in East Asia were identified. This study demonstrates that APOE-stratified analysis is important for understanding the genetic background of AD in different populations.


Assuntos
Doença de Alzheimer , Doenças Neurodegenerativas , Idoso , Alelos , Doença de Alzheimer/genética , Apolipoproteína E4/genética , Apolipoproteínas E/genética , Estudo de Associação Genômica Ampla , Genótipo , Humanos
20.
Sensors (Basel) ; 21(5)2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33804364

RESUMO

An essential component for the autonomous flight or air-to-ground surveillance of a UAV is an object detection device. It must possess a high detection accuracy and requires real-time data processing to be employed for various tasks such as search and rescue, object tracking and disaster analysis. With the recent advancements in multimodal data-based object detection architectures, autonomous driving technology has significantly improved, and the latest algorithm has achieved an average precision of up to 96%. However, these remarkable advances may be unsuitable for the image processing of UAV aerial data directly onboard for object detection because of the following major problems: (1) Objects in aerial views generally have a smaller size than in an image and they are uneven and sparsely distributed throughout an image; (2) Objects are exposed to various environmental changes, such as occlusion and background interference; and (3) The payload weight of a UAV is limited. Thus, we propose employing a new real-time onboard object detection architecture, an RGB aerial image and a point cloud data (PCD) depth map image network (RGDiNet). A faster region-based convolutional neural network was used as the baseline detection network and an RGD, an integration of the RGB aerial image and the depth map reconstructed by the light detection and ranging PCD, was utilized as an input for computational efficiency. Performance tests and evaluation of the proposed RGDiNet were conducted under various operating conditions using hand-labeled aerial datasets. Consequently, it was shown that the proposed method has a superior performance for the detection of vehicles and pedestrians than conventional vision-based methods.

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