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1.
PLoS One ; 19(4): e0301663, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38603701

RESUMO

The multikinase inhibitor sorafenib is the standard first-line treatment for advanced hepatocellular carcinoma (HCC), but many patients become sorafenib-resistant (SR). This study investigated the efficacy of another kinase inhibitor, regorafenib (Rego), as a second-line treatment. We produced SR HCC cells, wherein the PI3K-Akt, TNF, cAMP, and TGF-beta signaling pathways were affected. Acute Rego treatment of these cells reversed the expression of genes involved in TGF-beta signaling but further increased the expression of genes involved in PI3K-Akt signaling. Additionally, Rego reversed the expression of genes involved in nucleosome assembly and epigenetic gene expression. Weighted gene co-expression network analysis (WGCNA) revealed four differentially expressed long non-coding RNA (DElncRNA) modules that were associated with the effectiveness of Rego on SR cells. Eleven putative DElncRNAs with distinct expression patterns were identified. We associated each module with DEmRNAs of the same pattern, thus obtaining DElncRNA/DEmRNA co-expression modules. We discuss the potential significance of each module. These findings provide insights and resources for further investigation into the potential mechanisms underlying the response of SR HCC cells to Rego.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Compostos de Fenilureia , Piridinas , RNA Longo não Codificante , Humanos , Sorafenibe/farmacologia , Carcinoma Hepatocelular/tratamento farmacológico , Carcinoma Hepatocelular/genética , Carcinoma Hepatocelular/patologia , RNA Longo não Codificante/genética , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Fosfatidilinositol 3-Quinases , RNA Mensageiro/metabolismo , Fator de Crescimento Transformador beta
2.
BMC Nurs ; 23(1): 94, 2024 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-38311777

RESUMO

BACKGROUND: Physical restraint (PR) is used to ensure the safety of care recipients. However, this causes an ethical dilemma between the autonomy and dignity of the recipients and the provision of effective treatment by health workers. This study aimed to analyze legal and ethical situations related to the use of PR using written judgments. METHODS: This study uses a qualitative retrospective design. Qualitative content analysis was performed on South Korean written judgments. A total of 38 cases from 2015 to 2021 were categorized. The types of court decisions and ethical dilemma situations were examined according to the four principles of bioethics, and the courts' judgments were compared. RESULTS: Written judgments related to PR were classified into three types according to the appropriateness of PR use, the presence or absence of duty of care, and legal negligence. Ethical dilemmas were categorized into three situations depending on whether the four principles of bioethics were followed. The courts' decisions regarding the ethical dilemmas differed depending on the situational factors before and after the use of PR and the conflicting conditions of the ethical principles. CONCLUSIONS: Health workers should consider legal and ethical requirements when determining whether to use PR to provide the care recipient with the necessary treatment.

3.
BMC Bioinformatics ; 25(1): 56, 2024 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-38308205

RESUMO

BACKGROUND: Genome-wide association studies have successfully identified genetic variants associated with human disease. Various statistical approaches based on penalized and machine learning methods have recently been proposed for disease prediction. In this study, we evaluated the performance of several such methods for predicting asthma using the Korean Chip (KORV1.1) from the Korean Genome and Epidemiology Study (KoGES). RESULTS: First, single-nucleotide polymorphisms were selected via single-variant tests using logistic regression with the adjustment of several epidemiological factors. Next, we evaluated the following methods for disease prediction: ridge, least absolute shrinkage and selection operator, elastic net, smoothly clipped absolute deviation, support vector machine, random forest, boosting, bagging, naïve Bayes, and k-nearest neighbor. Finally, we compared their predictive performance based on the area under the curve of the receiver operating characteristic curves, precision, recall, F1-score, Cohen's Kappa, balanced accuracy, error rate, Matthews correlation coefficient, and area under the precision-recall curve. Additionally, three oversampling algorithms are used to deal with imbalance problems. CONCLUSIONS: Our results show that penalized methods exhibit better predictive performance for asthma than that achieved via machine learning methods. On the other hand, in the oversampling study, randomforest and boosting methods overall showed better prediction performance than penalized methods.


Assuntos
Algoritmos , Estudo de Associação Genômica Ampla , Humanos , Teorema de Bayes , Aprendizado de Máquina , República da Coreia/epidemiologia
4.
PLoS One ; 18(9): e0290403, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37733663

RESUMO

The COVID-19 pandemic has sparked a rapid worldwide increase in the utilization of delivery services. This study delves into the experiences of delivery workers as one of the activley developed industries during the COVID-19 pandemic in South Korea and sheds light on the effects of the pandemic on their working conditions. Through in-depth interviews with 10 Korean delivery workers, data analysis employed the hermeneutic phenomenology research method developed by Van Manen. The findings indicate a substantial rise in income levels and a positive societal perception of delivery labor post-COVID-19. The pandemic also attracted many new workers to the industry due to low entry barriers and work flexibility. However, challenges persisted as delivery workers grappled with an uncertain legal status and sometimes jeopardized their safety to boost earnings in shorter time frames. The pivotal role played by delivery workers in enhancing communal quality of life and connectivity during the pandemic cannot be overlooked. As we step into a post-COVID-19 era, comprehensive efforts are needed to enhance the working environment for delivery workers globally. Notably, clarifying the relationship between delivery workers and companies within the novel digital labor landscape is essential, alongside establishing institutional frameworks to safeguard workers' basic rights, including health and safety provisions.


Assuntos
COVID-19 , Condições de Trabalho , Humanos , COVID-19/epidemiologia , Pandemias , Qualidade de Vida
5.
Int J Mol Sci ; 24(15)2023 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-37569643

RESUMO

Asthma is a complex heterogeneous disease caused by gene-environment interactions. Although numerous genome-wide association studies have been conducted, these interactions have not been systemically investigated. We sought to identify genetic factors associated with the asthma phenotype in 66,857 subjects from the Health Examination Study, Cardiovascular Disease Association Study, and Korea Association Resource Study cohorts. We investigated asthma-associated gene-environment (smoking status) interactions at the level of single nucleotide polymorphisms, genes, and gene sets. We identified two potentially novel (SETDB1 and ZNF8) and five previously reported (DM4C, DOCK8, MMP20, MYL7, and ADCY9) genes associated with increased asthma risk. Numerous gene ontology processes, including regulation of T cell differentiation in the thymus (GO:0033081), were significantly enriched for asthma risk. Functional annotation analysis confirmed the causal relationship between five genes (two potentially novel and three previously reported genes) and asthma through genome-wide functional prediction scores (combined annotation-dependent depletion, deleterious annotation of genetic variants using neural networks, and RegulomeDB). Our findings elucidate the genetic architecture of asthma and improve the understanding of its biological mechanisms. However, further studies are necessary for developing preventive treatments based on environmental factors and understanding the immune system mechanisms that contribute to the etiology of asthma.


Assuntos
Asma , Predisposição Genética para Doença , Humanos , Estudo de Associação Genômica Ampla , Asma/genética , Interação Gene-Ambiente , Fumar , Polimorfismo de Nucleotídeo Único , Fatores de Troca do Nucleotídeo Guanina/genética , Fatores de Transcrição Kruppel-Like/genética
6.
J Nurs Scholarsh ; 55(6): 1204-1214, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37291734

RESUMO

INTRODUCTION: The literature cites many factors that influence a nurse's decision when choosing their workplace. However, it is unclear which attributes matter the most to newly graduated nurses. The study aimed to identify the relative importance of workplace preference attributes among newly graduated nurses. DESIGN: A cross-sectional study. METHODS: We conducted an online survey and data were collected in June 2022. A total of 1111 newly graduated nurses in South Korea participated. The study employed best-worst scaling to quantify the relative importance of nine workplace preferences and also included questions about participants' willingness to pay for each workplace preferences. The relationships between the relative importance of the workplace attribute and the willingness to pay were determined using a quadrant analysis. RESULTS: The order according to the relative importance of workplace preferences is as follows: salary, working conditions, organizational climate, welfare program, hospital location, hospital level, hospital reputation, professional development, and the chance of promotion. The most important factor, salary, was 16.67 times more important than the least important factor, the chance of promotion, in terms of choosing workplace. In addition, working conditions and organizational climate were recognized as high economic value indicators. CONCLUSION: Newly graduated nurses nominated better salaries, working conditions, and organizational climate as having a more important role in choosing their workplace. CLINICAL RELEVANCE: The findings of this study have important implications for institutions and administrators in recruiting and retaining newly graduated nurses.


Assuntos
Enfermeiras e Enfermeiros , Local de Trabalho , Humanos , Estudos Transversais , Inquéritos e Questionários , Hospitais
7.
Artigo em Inglês | MEDLINE | ID: mdl-35918141

RESUMO

PURPOSE: The purpose of this study was to evaluate the impact of synchronous online education on the patient safety competency (knowledge, attitudes, and skills) of nursing students in Korea and to explore what they thought about this educational method. METHODS: A single-group pre-and post-test design and summative content analysis were implemented. On November 14th, 2020, 110 nursing students completed synchronous online patient safety education. Patient safety competency was measured before and after the intervention using the revised Patient Safety Competency Self-Evaluation tool. The descriptive statistics, paired t-test, and Wilcoxon signed-rank test were used to analyze the data. Students also expressed their opinions about this education based on open-ended questions. RESULTS: All the patient safety competency scores significantly increased after intervention. A summative content analysis of the open-ended questions yielded 5 categories: educational materials, education level, education time, interaction, and educational media. CONCLUSION: This study found that synchronous online patient safety education improves nursing students' knowledge on, attitudes towards, and skills in patient safety. Nursing students also expressed a variety of positive aspects of the online education method. To improve the efficacy of synchronous online patient safety education, there is a need for further empirical studies on the appropriate class duration and difficulty of the content. It is essential to find a way to combine online education with various learning activities.


Assuntos
Educação a Distância , Bacharelado em Enfermagem , Estudantes de Enfermagem , Atitude , Bacharelado em Enfermagem/métodos , Humanos , Segurança do Paciente , República da Coreia
8.
Nurse Educ Today ; 111: 105310, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35276536

RESUMO

OBJECTIVES: To identify evidence on the types of educational interventions that have been developed to encourage participation in health policy for nurses and on the effectiveness of these interventions. DESIGN: A systematic literature review. DATA SOURCES: Six electronic databases (PubMed, EMBASE, Cochrane, CINAHL, Web of Science, and SCOPUS) were searched. REVIEW METHODS: All qualitative and quantitative studies on educational interventions developed to encourage participation in health policy for nurses were included in this study. Two researchers independently reviewed each article for inclusion and assessed the eligibility of the studies. The effects of educational interventions were analyzed through a thematic synthesis for the qualitative studies and data tabulation for the quantitative studies. A comprehensive framework of educational strategies to encourage participation in health policy was developed based on three stages of citizen participation in policy-making. RESULTS: Seven articles were selected for the review: four quantitative studies and three qualitative studies. In all studies that confirmed the educational effect through quantitative design, statistically significant improvement in students' competency on policy participation was observed. In the qualitative study, it was possible to mainly confirm the students' positive feelings toward policy participation education, and three themes were derived: expanding the perspective of policy, understanding the actual feature of policymakers, and improving the possibility of policy participation. The education strategies were synthesized into six types, which were divided into three stages according to the level of citizen participation in policy-making: Listener, Observer, Twitterian, Analyst and Speaker, Interviewer, and Contributor. CONCLUSION: Education on health policy increases the competency and interest of nurses concerning policy participation. We propose systematic policy education according to the policy participation stage. To realize this, nursing educators should secure faculty with relevant expertise and develop a verified curriculum.


Assuntos
Currículo , Docentes , Política de Saúde , Humanos , Pesquisa Qualitativa
9.
Int J Health Serv ; 52(1): 89-98, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-32819182

RESUMO

This study aims to address the question: Why did transition countries enact laws related to social health insurance (SHI) at different times, even though they experienced dissolution of the Soviet Union at the same time in the early 1990s? We used Ragin's fuzzy-set qualitative comparative analysis to investigate the configurations of causal conditions that affected the speed of developing SHI-related legislation in 24 post-socialist countries. The potential causal conditions were health status, economic status, level of governance, level of democracy, issue salience, and number of medical professionals. We found 3 pathways that led to the enactment of SHI-related laws and 1 pathway that inhibits enactment. The key factors impacting enactment of SHI-related laws were non-corrupt governments and realization of democracy. In addition, medical professionals' involvement in policymaking could be the factor to enact SHI-related laws. Further research is needed for more in-depth analysis regarding what the laws specifically include, type of health insurance systems that were adopted based on the laws, and if the legislation contributed toward achieving universal health coverage.


Assuntos
Seguro Saúde , Cobertura Universal do Seguro de Saúde , Humanos , Previdência Social , Fatores Socioeconômicos , U.R.S.S.
10.
Artigo em Inglês | MEDLINE | ID: mdl-34444141

RESUMO

Long-term childhood cancer survivors (CCS) may experience physical, social, and emotional struggles posttreatment. Our aim was to explore the experiences of CCS dealing with the late effects of cancer treatment from their own perspectives. This study employed a qualitative descriptive design to explore and describe the experience of dealing with late effects among CCS. Semi-structured interviews were conducted with 15 CCS in Korea. Participants were selected by purposive and snowball sampling and individually interviewed during the period from September to November 2020. Conventional content analysis was used to analyze data and identify themes. Two main themes and seven subthemes emerged. The two main themes were: "Things I encountered while crossing a bridge" and "Living as a survivor". The participants reported both positive and negative experiences with dealing with the late effects of cancer treatment. The main themes indicated that late effects exert significant impacts on the lives of CCS in both positive and negative ways. Healthcare providers and researchers should pay attention to early intervention needs of CCS and their support systems to strengthen their positive experiences in dealing with late effects during their survivorships.


Assuntos
Sobreviventes de Câncer , Neoplasias , Criança , Progressão da Doença , Humanos , Neoplasias/terapia , Pesquisa Qualitativa , Sobreviventes
11.
J Forensic Leg Med ; 80: 102185, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34000660

RESUMO

Colon perforation is the most serious complication of colonoscopy, and tends to be considered as malpractice. The aim of this study was to identify the characteristics and causes of medical accidents by analyzing lawsuit cases on colon perforation during colonoscopy. We collected judgment results that were ruled from 2005 to 2015 using the keyword 'colonoscopy' in the 'Korea's Written Judgment Public Reading System' of the Supreme Court, and extracted the cases of colon perforation. Characteristics of medical accidents and the decisions of courts were analyzed from written judgments. Twenty-two lawsuits were analyzed. Most cases were ruled in favor of the plaintiff (n = 20). The allegations against defendants, as filed by the plaintiffs, were performance error (n = 22), improper monitoring after colonoscopy (n = 7), and a lack of informed consent (n = 8). The median compensation was 9335.47 US dollars; this is about 130 times the cost of a single colonoscopy in Korea. The greater the intestinal damage, the greater the amount of compensation (p = 0.016). The time interval from procedure to diagnosis of perforation was most frequently 24 h later (n = 9). It is important to educate patients completely about the symptoms of colon perforation and to guide them to contact medical institutions immediately when symptoms occur. In addition, doctors should explain sufficiently the possibility of perforation before colonoscopy to the patient, and not the caregiver, and get informed consent.


Assuntos
Colo/lesões , Colonoscopia/efeitos adversos , Colonoscopia/legislação & jurisprudência , Compensação e Reparação/legislação & jurisprudência , Perfuração Intestinal/etiologia , Imperícia/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Consentimento Livre e Esclarecido/legislação & jurisprudência , Perfuração Intestinal/epidemiologia , Masculino , Imperícia/economia , Pessoa de Meia-Idade , República da Coreia/epidemiologia , Estudos Retrospectivos
12.
Transplantation ; 105(10): 2213-2225, 2021 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-33654003

RESUMO

BACKGROUND: Tacrolimus (TAC) is an immunosuppressant widely prescribed following an allogenic organ transplant. Due to wide interindividual pharmacokinetic (PK) variability, optimizing TAC dosing based on genetic factors is required to minimize nephrotoxicity and acute rejections. METHODS: We enrolled 1133 participants receiving TAC from 4 cohorts, consisting of 3 with kidney transplant recipients and 1 with healthy males from clinical trials. The effects of clinical factors were estimated to appropriately control confounding variables. A genome-wide association study, haplotype analysis, and a gene-based association test were conducted using the Korea Biobank Array or targeted sequencing for 114 pharmacogenes. RESULTS: Genome-wide association study verified that CYP3A5*3 is the only common variant associated with TAC PK variability in Koreans. We detected several CYP3A5 and CYP3A4 rare variants that could potentially affect TAC metabolism. The haplotype structure of CYP3A5 stratified by CYP3A5*3 was a significant factor for CYP3A5 rare variant interpretation. CYP3A4 rare variant carriers among CYP3A5 intermediate metabolizers displayed higher TAC trough levels. Gene-based association tests in the 61 absorption, distribution, metabolism, and excretion genes revealed that CYP1A1 are associated with additional TAC PK variability: CYP1A1 rare variant carriers among CYP3A5 poor metabolizers showed lower TAC trough levels than the noncarrier controls. CONCLUSIONS: Our study demonstrates that rare variant profiling of CYP3A5 and CYP3A4, combined with the haplotype structures of CYP3A locus, provide additive value for personalized TAC dosing. We also identified a novel association between CYP1A1 rare variants and TAC PK variability in the CYP3A5 nonexpressers that needs to be further investigated.


Assuntos
Citocromo P-450 CYP3A/genética , Rejeição de Enxerto/prevenção & controle , Imunossupressores/administração & dosagem , Transplante de Rim , Variantes Farmacogenômicos , Tacrolimo/administração & dosagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Tomada de Decisão Clínica , Estudos Transversais , Citocromo P-450 CYP3A/metabolismo , Feminino , Estudo de Associação Genômica Ampla , Rejeição de Enxerto/imunologia , Sobrevivência de Enxerto/efeitos dos fármacos , Haplótipos , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/farmacocinética , Transplante de Rim/efeitos adversos , Masculino , Pessoa de Meia-Idade , Farmacogenética , Testes Farmacogenômicos , Medicina de Precisão , Valor Preditivo dos Testes , República da Coreia , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Tacrolimo/efeitos adversos , Tacrolimo/farmacocinética , Resultado do Tratamento , Adulto Jovem
13.
Gland Surg ; 9(5): 1286-1297, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33224803

RESUMO

BACKGROUND: Thyroid cancer is one of the most common cancers in South Korea, and thyroidectomy is still frequently performed. As new diagnostic methods have led to a significant increase in the early detection of thyroid cancer worldwide, medical disputes related to thyroid surgery are also likely to increase. The purpose of this study was to investigate the causes of medical disputes related to thyroidectomy and to identify ways to prevent unnecessary disputes and malpractice. METHODS: We analyzed 35 judicial decisions involving thyroidectomy in South Korea from January 1998 to July 2019. RESULTS: The most common cause of lawsuits was "performance error during surgery" (n=19), especially "recurrent laryngeal nerve (RLN) injury" (n=7), of which five cases were ruled medical malpractice. For lawsuits involving misdiagnosis (n=14), five regarding fine needle aspiration cytology (FNAC) and frozen section examination were ruled malpractice. The most common malpractice related to informed consent was "lack of explanation about surgery complications" (n=10). CONCLUSIONS: Surgeons should follow guidelines to protect themselves from diagnostic error dispute; performing FNAC more often might also prevent lawsuits. When the courts judge the surgeon's negligence in cases of RLN injuries, whether bilateral or unilateral, it is necessary to consider fully the surgeon's efforts to prevent RLN injuries. Providing information and building trust through sufficient patient-doctor communication is crucial.

14.
Artigo em Inglês | MEDLINE | ID: mdl-33113978

RESUMO

Nurses deal with ethical decisions as they protect patients' rights, but a consensus on effective approaches to nursing ethics education is lacking. The "four topics" method can facilitate decision-making when nurses experience ethical dilemmas in practice. This study aimed to describe nursing students' perspectives on and experiences of a case-centered approach to nursing ethics education using the four topics method. This qualitative study consisted of two phases. First, we delivered case-centered nursing ethics education sessions to nursing students using the four topics method. Then, we conducted two focus group discussions that explored students' perspectives on and experiences of nursing ethics education. Data were analyzed using conventional content analysis. Four themes were identified: the importance of ethics education as perceived by nursing students, problems in current nursing ethics education, the experience of case-centered nursing ethics education using the four topics approach, and suggestions for improving nursing ethics education. The case-centered approach using the four topics method is effective in enhancing nursing students' nursing ethics ability. It is crucial to understand that nursing students would like to set up their own ethical standards and philosophy. Continuous efforts to encourage students' participation and to provide ethical reflection opportunities during clinical practice are needed to better connect theory with clinical practice.


Assuntos
Educação em Enfermagem , Ética em Enfermagem , Estudantes de Enfermagem , Adulto , Feminino , Grupos Focais , Humanos , Masculino , Pesquisa Qualitativa , Adulto Jovem
15.
Int J Mol Sci ; 21(18)2020 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-32937825

RESUMO

Gene-environment interaction (G×E) studies are one of the most important solutions for understanding the "missing heritability" problem in genome-wide association studies (GWAS). Although many statistical methods have been proposed for detecting and identifying G×E, most employ single nucleotide polymorphism (SNP)-level analysis. In this study, we propose a new statistical method, Hierarchical structural CoMponent analysis of gene-based Gene-Environment interactions (HisCoM-G×E). HisCoM-G×E is based on the hierarchical structural relationship among all SNPs within a gene, and can accommodate all possible SNP-level effects into a single latent variable, by imposing a ridge penalty, and thus more efficiently takes into account the latent interaction term of G×E. The performance of the proposed method was evaluated in simulation studies, and we applied the proposed method to investigate gene-alcohol intake interactions affecting systolic blood pressure (SBP), using samples from the Korea Associated REsource (KARE) consortium data.


Assuntos
Interação Gene-Ambiente , Polimorfismo de Nucleotídeo Único/genética , Pressão Sanguínea/genética , Simulação por Computador , Feminino , Estudo de Associação Genômica Ampla/métodos , Humanos , Masculino , República da Coreia
16.
Neurosurgery ; 87(2): 294-302, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31754721

RESUMO

BACKGROUND: Genetic factors play an important role in the pathogenesis of craniosynostosis (CRS). However, the molecular diagnosis of CRS in clinical practice is limited because of its heterogeneous etiology. OBJECTIVE: To investigate the genomic landscape of CRS in a Korean cohort and also to establish a practical diagnostic workflow by applying targeted panel sequencing. METHODS: We designed a customized panel covering 34 CRS-related genes using in-solution hybrid capture method. We enrolled 110 unrelated Korean patients with CRS, including 40 syndromic and 70 nonsyndromic cases. A diagnostic pipeline was established by combining in-depth clinical reviews and multiple bioinformatics tools for analyzing single-nucleotide variants (SNV)s and copy number variants (CNV)s. RESULTS: The diagnostic yield of the targeted panel was 30.0% (33/110). Twenty-five patients (22.7%) had causal genetic variations resulting from SNVs or indels in 9 target genes (TWIST1, FGFR3, TCF12, ERF, FGFR2, ALPL, EFNB1, FBN1, and SKI, in order of frequency). CNV analysis identified 8 (7.3%) additional patients with chromosomal abnormalities involving 1p32.3p31.3, 7p21.1, 10q26, 15q21.3, 16p11.2, and 17p13.3 regions; these cases mostly presented with syndromic clinical features. CONCLUSION: The present study shows the wide genomic landscape of CRS, revealing various genetic factors for CRS pathogenesis. In addition, the results demonstrate that an efficient diagnostic workup using target panel sequencing provides great clinical utility in the molecular diagnosis of CRS.


Assuntos
Craniossinostoses/diagnóstico , Craniossinostoses/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Mutação
17.
Genes (Basel) ; 10(11)2019 11 14.
Artigo em Inglês | MEDLINE | ID: mdl-31739607

RESUMO

Although there have been several analyses for identifying cancer-associated pathways, based on gene expression data, most of these are based on single pathway analyses, and thus do not consider correlations between pathways. In this paper, we propose a hierarchical structural component model for pathway analysis of gene expression data (HisCoM-PAGE), which accounts for the hierarchical structure of genes and pathways, as well as the correlations among pathways. Specifically, HisCoM-PAGE focuses on the survival phenotype and identifies its associated pathways. Moreover, its application to real biological data analysis of pancreatic cancer data demonstrated that HisCoM-PAGE could successfully identify pathways associated with pancreatic cancer prognosis. Simulation studies comparing the performance of HisCoM-PAGE with other competing methods such as Gene Set Enrichment Analysis (GSEA), Global Test, and Wald-type Test showed HisCoM-PAGE to have the highest power to detect causal pathways in most simulation scenarios.


Assuntos
Carcinoma Ductal Pancreático/genética , Análise de Dados , Regulação Neoplásica da Expressão Gênica , Modelos Genéticos , Neoplasias Pancreáticas/genética , Idoso , Algoritmos , Carcinoma Ductal Pancreático/mortalidade , Simulação por Computador , Bases de Dados Genéticas/estatística & dados numéricos , Conjuntos de Dados como Assunto , Estudos de Viabilidade , Feminino , Redes Reguladoras de Genes , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos/estatística & dados numéricos , Neoplasias Pancreáticas/mortalidade , Prognóstico , RNA-Seq/estatística & dados numéricos , República da Coreia/epidemiologia , Análise de Sobrevida
18.
Oxid Med Cell Longev ; 2019: 9526725, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31612079

RESUMO

The homeostatic challenge may provide unique opportunities for quantitative assessment of the health-promoting effects of nutritional interventions in healthy individuals. Objective. The present study is aimed at characterizing and validating the use of acute aerobic exercise (AAE) on a treadmill at 60% of VO2max for 30 min, in assessing the antioxidative and anti-inflammatory effects of a nutritional intervention. In a controlled, randomized, parallel trial of Korean black raspberry (KBR) (n = 24/group), fasting blood and urine samples collected before and following the AAE load at either baseline or 4-week follow-up were analyzed for biochemical markers, 1H-NMR metabolomics, and transcriptomics. The AAE was characterized using the placebo data only, and either the placebo or the treatment data were used in the validation. The AAE load generated a total of 50 correlations of 44 selected markers, based on Pearson's correlation coefficient analysis of 105 differential markers. Subsequent mapping of selected markers onto the KEGG pathway dataset showed 127 pathways relevant to the AAE load. Of these, 54 pathways involving 18 key targets were annotated to be related to oxidative stress and inflammation. The biochemical responses were amplified with the AAE load as compared to those with no load, whereas, the metabolomic and transcriptomic responses were downgraded. Furthermore, target-pathway network analysis revealed that the AAE load provided more explanations on how KBR exerted antioxidant effects in healthy subjects (29 pathways involving 12 key targets with AAE vs. 12 pathways involving 2 key targets without AAE). This study provides considerable insight into the molecular changes incurred by AAE and furthers our understanding that AAE-induced homeostatic perturbation could magnify oxidative and inflammatory responses, thereby providing a unique opportunity to test functional foods for antioxidant and anti-inflammatory purposes in clinical settings with healthy subjects.


Assuntos
Antioxidantes/uso terapêutico , Exercício Físico/fisiologia , Inflamação/terapia , Estado Nutricional/fisiologia , Feminino , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade
19.
Clin Exp Allergy ; 49(5): 603-614, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30657218

RESUMO

BACKGROUND: Asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS), which has received much attention, has not been unanimously defined. OBJECTIVE: In this study, we tried to demonstrate that longitudinally defined ACOS is more useful in the real world than blending patients with asthma and COPD. METHODS: The study patients had undergone two consecutive pulmonary function tests measured at least 3 months apart (n = 1889). We selected the patients who had positive bronchodilator response or methacholine provocation tests (n = 959). Next, we defined ACOS as a patient with a persistent airflow obstruction [forced expiratory volume in 1 second (FEV1)/forced vital capacity <0.7] that was identified twice consecutively by an interval of at least 3 months (n = 228). RESULTS: The proportions of patients who were older, male and smokers were significantly higher, and baseline lung function was lower in patients with ACOS. In the longitudinal analysis, the mean change in lung function was high, and a greater decline in FEV1 was observed in patients with ACOS. In addition, we compared ACOS and severe asthma, and we also performed a cluster analysis and compared the results with our definition of ACOS. According to our definition, ACOS is an independent subtype with distinctive characteristics. Finally, a genome-wide association study (GWAS) was performed to identify genetic variations associated with ACOS, but no significant single nucleotide polymorphisms were identified. CONCLUSION: Our findings suggest that ACOS should be defined longitudinally and considered as an independent subgroup distinguished by inherited environmental factors rather than as a genetically distinct independent group.


Assuntos
Síndrome de Sobreposição da Doença Pulmonar Obstrutiva Crônica e Asma/epidemiologia , Adulto , Fatores Etários , Idoso , Síndrome de Sobreposição da Doença Pulmonar Obstrutiva Crônica e Asma/diagnóstico , Síndrome de Sobreposição da Doença Pulmonar Obstrutiva Crônica e Asma/etiologia , Síndrome de Sobreposição da Doença Pulmonar Obstrutiva Crônica e Asma/terapia , Biomarcadores , Análise por Conglomerados , Gerenciamento Clínico , Suscetibilidade a Doenças , Feminino , Estudo de Associação Genômica Ampla , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Fenótipo , Vigilância em Saúde Pública , República da Coreia/epidemiologia , Testes de Função Respiratória , Índice de Gravidade de Doença
20.
J Korean Acad Nurs ; 49(6): 760-770, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31932570

RESUMO

PURPOSE: The role of registered nurses is expanding in scope as the healthcare paradigm shifts from acute, hospital-based care to community and population-based care. Given this paradigm shift, this study explores the legal aspects of the role of a registered nurse. METHODS: We used document analysis for extracting laws and legal orders related to nursing from the entirety of Korean law. Using textualism approach, we examined the contents utilizing a framework that was developed based on the role classification of community nurses by Clark in this study. RESULTS: A total of 119 items related to nursing were derived from 64 laws. Of these, 71.4 % can be performed by people in multiple types of occupations including nurses. As a result of analyzing required qualifications, 45.4% of 119 items required additional qualifications besides registered nurse license. Analysis of workplace and activity type demonstrated that 26.1% of the 119 items were related to medical institutions, with nurses performing mostly "Client-oriented role." More than half (68.9%) were non-medical institutions, with nurses performing mostly "Delivery-oriented role." Some, however, did not stipulate the nurse's roles clearly. CONCLUSION: Therefore, to match the enhanced scope and responsibilities of registered nurses and to appropriately recognize, guide, and hold these nurses accountable, laws and policy must reflect these changes. In doing so, these updated laws and policies will ultimately serve as a basis for improving the quality and safety of nursing services.


Assuntos
Papel do Profissional de Enfermagem , Âmbito da Prática/legislação & jurisprudência , Humanos , Políticas , República da Coreia
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