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1.
BMJ Open Respir Res ; 11(1)2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38897613

RESUMO

BACKGROUND: Existing studies on chronic obstructive pulmonary disease (COPD) in Korea lack full population coverage, relying on small sample sizes. Therefore, this study aims to investigate the prevalence and mortality of COPD in the entire Korean population. METHODS: This serial cross-sectional study used national databases, linking the National Health Information Database (2008-2017) with Causes of Death Statistics. Identification of individuals with COPD used diagnostic codes (International Classification of Diseases-10: J41-J44) or a history of COPD-related hospitalisation, focusing on adults aged 40 and above. Prevalence and mortality rates, calculated for 2008-2017, encompassed both crude and age-standardised and sex-standardised measures. A multivariate Poisson regression model estimated the association between COPD and all-cause and cause-specific mortality, presenting incidence rate ratios (IRRs) and 95% CIs, using data from the year 2017. RESULTS: Age-adjusted COPD prevalence exhibited a notable increase from 2008 (7.9%) to 2017 (16.7%) in both sexes. The prevalences of diabetes mellitus, hypertension, dyslipidaemia, ischaemic heart disease, cancer, osteoporosis and tuberculosis were higher in the COPD group than in the group without COPD (p for all <0.001). The incidence of stroke and myocardial infarction (p for all <0.001) and overall mortality were higher in the COPD group (adjusted IRR 1.23, 95% CI 1.22 to 1.24, p<0.001). In particular, incidence rate and risk of mortality due to lung cancer were higher than that of those without COPD compared with other cancer types (adjusted IRR 2.51, 95% CI 2.42 to 2.60, p<0.001). It was significantly higher the incidence rate and risk of mortality among group with COPD than those without COPD in lower respiratory disease (adjusted IRR 16.62, 95% CI 15.07 to 18.33, p<0.001), asthma (adjusted IRR 6.41, 95% CI 5.47 to 7.51, p<0.001) and bronchiectasis (adjusted IRR 11.77, 95% CI 7.59 to 18.26, p<0.001), respectively. DISCUSSION: Our study showed that the prevalence of COPD is gradually increasing from 9.2% in 2009 to 16.7% in 2018. Furthermore, in overall (all-cause) mortality, it was significantly higher in group with COPD than in group without COPD. The mortality rate of group with COPD was much higher than the overall mortality rate but is gradually decreasing.


Assuntos
Doença Pulmonar Obstrutiva Crônica , Humanos , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Doença Pulmonar Obstrutiva Crônica/mortalidade , República da Coreia/epidemiologia , Masculino , Feminino , Pessoa de Meia-Idade , Prevalência , Idoso , Estudos Transversais , Adulto , Idoso de 80 Anos ou mais , Causas de Morte , Incidência , Bases de Dados Factuais
2.
Nat Commun ; 15(1): 3575, 2024 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-38678050

RESUMO

High dimensionality and noise have limited the new biological insights that can be discovered in scRNA-seq data. While dimensionality reduction tools have been developed to extract biological signals from the data, they often require manual determination of signal dimension, introducing user bias. Furthermore, a common data preprocessing method, log normalization, can unintentionally distort signals in the data. Here, we develop scLENS, a dimensionality reduction tool that circumvents the long-standing issues of signal distortion and manual input. Specifically, we identify the primary cause of signal distortion during log normalization and effectively address it by uniformizing cell vector lengths with L2 normalization. Furthermore, we utilize random matrix theory-based noise filtering and a signal robustness test to enable data-driven determination of the threshold for signal dimensions. Our method outperforms 11 widely used dimensionality reduction tools and performs particularly well for challenging scRNA-seq datasets with high sparsity and variability. To facilitate the use of scLENS, we provide a user-friendly package that automates accurate signal detection of scRNA-seq data without manual time-consuming tuning.


Assuntos
Algoritmos , RNA-Seq , Análise da Expressão Gênica de Célula Única , Animais , Humanos , Biologia Computacional/métodos , Análise de Dados , RNA Citoplasmático Pequeno/genética , RNA-Seq/métodos , Análise da Expressão Gênica de Célula Única/métodos , Software
3.
PLoS One ; 19(3): e0300719, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38527055

RESUMO

Climate change increases global temperatures, which is lethal to both livestock and humans. Heat stress is known as one of the various livestock stresses, and dairy cows react sensitively to high-temperature stress. We aimed to better understand the effects of heat stress on the health of dairy cows and observing biological changes. Individual cows were divided into normal (21-22 °C, 50-60% humidity) and high temperature (31-32 °C, 80-95% humidity), respectively, for 7-days. We performed metabolomic and transcriptome analyses of the blood and gut microbiomes of feces. In the high-temperature group, nine metabolites including linoleic acid and fructose were downregulated, and 154 upregulated and 72 downregulated DEGs (Differentially Expressed Genes) were identified, and eighteen microbes including Intestinimonas and Pseudoflavonifractor in genus level were significantly different from normal group. Linoleic acid and fructose have confirmed that associated with various stresses, and functional analysis of DEG and microorganisms showing significant differences confirmed that high-temperature stress is related to the inflammatory response, immune system, cellular energy mechanism, and microbial butyrate production. These biological changes were likely to withstand high-temperature stress. Immune and inflammatory responses are known to be induced by heat stress, which has been identified to maintain homeostasis through modulation at metabolome, transcriptome and microbiome levels. In these findings, heat stress condition can trigger alteration of immune system and cellular energy metabolism, which is shown as reduced metabolites, pathway enrichment and differential microbes. As results of this study did not include direct phenotypic data, we believe that additional validation is required in the future. In conclusion, high-temperature stress contributed to the reduction of metabolites, changes in gene expression patterns and composition of gut microbiota, which are thought to support dairy cows in withstanding high-temperature stress via modulating immune-related genes, and cellular energy metabolism to maintain homeostasis.


Assuntos
Lactação , Ácido Linoleico , Feminino , Humanos , Bovinos , Animais , Lactação/fisiologia , Ácido Linoleico/metabolismo , Resposta ao Choque Térmico/fisiologia , Homeostase , Frutose/metabolismo , Temperatura Alta , Leite/metabolismo
4.
Infect Chemother ; 56(1): 47-56, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38178709

RESUMO

BACKGROUND: CD14 recognizes lipopolysaccharide (LPS), and presepsin is a fragment of soluble CD14. Still, it remains uncertain whether Gram-negative bacteria induce higher presepsin levels than other microorganisms. To address this question, this study aimed to analyze presepsin levels based on microorganisms isolated in blood cultures. MATERIALS AND METHODS: This study was a single-center study comprising suspected sepsis patients enrolled from July 2020 to September 2020. A total of 95 patients with a single isolate confirmed in blood culture were analyzed to evaluate if there are any differences in presepsin levels according to microbial isolates. Plasma presepsin level was measured using PATHFAST assay kit and analyzer (LSI Medience Corporation, Tokyo, Japan). RESULTS: There were 26 Gram-positive bacteremia, 65 Gram-negative bacteremia, and 3 fungemia patients with median presepsin levels of 869, 1,439, and 11,951 pg/mL, respectively. Besides, one case of algaemia demonstrated a presepsin level of 1,231 pg/mL. Our results showed no statistically significant difference in presepsin levels among patients with Gram-positive bacteremia, Gram-negative bacteremia, and fungemia. Furthermore, presepsin levels did not differ significantly among bloodstream infections caused by bacteria that were isolated from at least three different patients. In particular, Gram-positive bacteria such as Staphylococcus aureus and Enterococcus faecalis were able to induce presepsin levels comparable to those induced by Gram-negative bacteria. CONCLUSION: We demonstrated that there were no significant differences in plasma presepsin levels according to microbial isolates in blood culture. The major cause of the variability in presepsin levels during bloodstream infection might be the immunogenicity of each microorganism rather than the presence of LPS in the microorganism.

5.
Int J Emerg Med ; 17(1): 75, 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38886639

RESUMO

BACKGROUND: Many cases of deep vein thrombosis (DVT) are diagnosed in the emergency department, and abbreviated lower extremity venous point-of-care ultrasound (POCUS) has already shown an accuracy comparable to that of specialists. This study aimed to identify the learning curve necessary for emergency medicine (EM) residents to achieve expertise-level accuracy in diagnosing DVT through a 3-point lower extremity venous POCUS. METHODS: This prospective study was conducted at an emergency department between May 2021 and October 2022. Four EM residents underwent a one-hour POCUS training session and performed DVT assessments in participants with DVT symptoms or confirmed pulmonary embolism. POCUS was performed at three proximal lower extremity sites to evaluate the thrombi presence and vein compressibility, with results validated by specialized radiology ultrasound. Cumulative sum (CUSUM) and the Bush and Mosteller models were used to analyze the learning curve, while generalized estimating equations were used to identify factors affecting diagnostic accuracy. RESULTS: 91 POCUS scans were conducted in 49 patients, resulting in 22% DVT confirmed by specialized venous ultrasound. In the CUSUM analysis, all four EM residents attained a 90% success rate at the common femoral vein, whereas only half achieved this rate when all three sites were considered. According to Bush and Mosteller models, 13-18 cases are required to attain 90-95% diagnostic accuracy. After 10-16 cases, the examination time for each resident decreased, and a 20% increase in examiner confidence was linked to a 2.506-fold increase in the DVT diagnosis accuracy. CONCLUSION: EM residents generally required 13-18 cases for 90-95% DVT diagnostic accuracy, but proficiency varied among individuals, particularly requiring more cases for regions outside the common femoral vein.

6.
Microbiome ; 12(1): 138, 2024 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-39044244

RESUMO

BACKGROUND: Scavenging indigenous village chickens play a vital role in sub-Saharan Africa, sustaining the livelihood of millions of farmers. These chickens are exposed to vastly different environments and feeds compared to commercial chickens. In this study, we analysed the caecal microbiota of 243 Ethiopian village chickens living in different altitude-dependent agro-ecologies. RESULTS: Differences in bacterial diversity were significantly correlated with differences in specific climate factors, topsoil characteristics, and supplemental diets provided by farmers. Microbiota clustered into three enterotypes, with one particularly enriched at high altitudes. We assembled 9977 taxonomically and functionally diverse metagenome-assembled genomes. The vast majority of these were not found in a dataset of previously published chicken microbes or in the Genome Taxonomy Database. CONCLUSIONS: The wide functional and taxonomic diversity of these microbes highlights their importance in the local adaptation of indigenous poultry, and the significant impacts of environmental factors on the microbiota argue for further discoveries in other agro-ecologies. Video Abstract.


Assuntos
Altitude , Bactérias , Galinhas , Animais , Galinhas/microbiologia , Etiópia , Bactérias/classificação , Bactérias/genética , Bactérias/isolamento & purificação , Microbioma Gastrointestinal/genética , Metagenoma , Ceco/microbiologia , Microbiota , Biodiversidade , Filogenia
7.
Ann Lab Med ; 2024 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-38910340

RESUMO

Background: Lactate is a commonly used biomarker for sepsis, although it has limitations in certain cases, suggesting the need for novel biomarkers. We evaluated the diagnostic accuracy of plasma renin concentration and renin activity for mortality and kidney outcomes in patients with sepsis with hypoperfusion or hypotension. Methods: This was a multicenter, prospective, observational study of 117 patients with septic shock treated at three tertiary emergency departments between September 2021 and October 2022. The accuracy of renin activity, renin, and lactate concentrations in predicting 28-day mortality, acute kidney injury (AKI), and renal replacement requirement was assessed using the area under the ROC curve (AUC) analysis. Results: The AUCs of initial renin activity, renin, and lactate concentrations for predicting 28-day mortality were 0.66 (95% confidence interval [CI], 0.55-0.77), 0.63 (95% CI, 0.52-0.75), and 0.65 (95% CI, 0.53-0.77), respectively, and those at 24 hrs were 0.74 (95% CI, 0.62-0.86), 0.70 (95% CI, 0.56-0.83), and 0.67 (95% CI, 0.54-0.79). Renin concentrations and renin activity outperformed initial lactate concentrations in predicting AKI within 14 days. The AUCs of renin and lactate concentrations were 0.71 (95% CI, 0.61-0.80) and 0.57 (95% CI, 0.46-0.67), respectively (P=0.030). The AUC of renin activity (0.70; 95% CI, 0.60-0.80) was also higher than that of lactate concentration (P=0.044). Conclusions: Renin concentration and renin activity show comparable performance to lactate concentration in predicting 28-day mortality in patients with septic shock but superior performance in predicting AKI.

8.
Nat Commun ; 15(1): 4067, 2024 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-38744958

RESUMO

The complexity of the tumor microenvironment poses significant challenges in cancer therapy. Here, to comprehensively investigate the tumor-normal ecosystems, we perform an integrative analysis of 4.9 million single-cell transcriptomes from 1070 tumor and 493 normal samples in combination with pan-cancer 137 spatial transcriptomics, 8887 TCGA, and 1261 checkpoint inhibitor-treated bulk tumors. We define a myriad of cell states constituting the tumor-normal ecosystems and also identify hallmark gene signatures across different cell types and organs. Our atlas characterizes distinctions between inflammatory fibroblasts marked by AKR1C1 or WNT5A in terms of cellular interactions and spatial co-localization patterns. Co-occurrence analysis reveals interferon-enriched community states including tertiary lymphoid structure (TLS) components, which exhibit differential rewiring between tumor, adjacent normal, and healthy normal tissues. The favorable response of interferon-enriched community states to immunotherapy is validated using immunotherapy-treated cancers (n = 1261) including our lung cancer cohort (n = 497). Deconvolution of spatial transcriptomes discriminates TLS-enriched from non-enriched cell types among immunotherapy-favorable components. Our systematic dissection of tumor-normal ecosystems provides a deeper understanding of inter- and intra-tumoral heterogeneity.


Assuntos
Neoplasias , Análise de Célula Única , Transcriptoma , Microambiente Tumoral , Humanos , Microambiente Tumoral/imunologia , Microambiente Tumoral/genética , Neoplasias/genética , Neoplasias/patologia , Neoplasias/metabolismo , Regulação Neoplásica da Expressão Gênica , Imunoterapia/métodos , Perfilação da Expressão Gênica , Interferons/metabolismo
9.
Medicine (Baltimore) ; 103(18): e38026, 2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38701308

RESUMO

As point-of-care ultrasound (POCUS) is increasingly being used in clinical settings, ultrasound education is expanding into student curricula. We aimed to determine the status and awareness of POCUS education in Korean medical schools using a nationwide cross-sectional survey. In October 2021, a survey questionnaire consisting of 20 questions was distributed via e-mail to professors in the emergency medicine (EM) departments of Korean medical schools. The questionnaire encompassed 19 multiple-choice questions covering demographics, current education, perceptions, and barriers, and the final question was an open-ended inquiry seeking suggestions for POCUS education. All EM departments of the 40 medical schools responded, of which only 13 (33%) reported providing POCUS education. The implementation of POCUS education primarily occurred in the third and fourth years, with less than 4 hours of dedicated training time. Five schools offered a hands-on education. Among schools offering ultrasound education, POCUS training for trauma cases is the most common. Eight schools had designated professors responsible for POCUS education and only 2 possessed educational ultrasound devices. Of the respondents, 64% expressed the belief that POCUS education for medical students is necessary, whereas 36%, including those with neutral opinions, did not anticipate its importance. The identified barriers to POCUS education included faculty shortages (83%), infrastructure limitations (76%), training time constraints (74%), and a limited awareness of POCUS (29%). POCUS education in Korean medical schools was limited to a minority of EM departments (33%). To successfully implement POCUS education in medical curricula, it is crucial to clarify learning objectives, enhance faculty recognition, and improve the infrastructure. These findings provide valuable insights for advancing ultrasound training in medical schools to ensure the provision of high-quality POCUS education for future healthcare professionals.


Assuntos
Currículo , Sistemas Automatizados de Assistência Junto ao Leito , Faculdades de Medicina , Ultrassonografia , Estudos Transversais , Humanos , República da Coreia , Ultrassonografia/estatística & dados numéricos , Inquéritos e Questionários , Medicina de Emergência/educação
10.
Diagnostics (Basel) ; 14(2)2024 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-38275472

RESUMO

This study aimed to compare the accuracy of real-time trans-tracheal ultrasound (TTUS) with capnography to confirm intubation in cardiopulmonary resuscitation (CPR) while wearing a powered air-purifying respirator (PAPR). This setting reflects increased caution due to contagious diseases. This single-center, prospective, comparative study enrolled patients requiring CPR while wearing a PAPR who visited the emergency department of a tertiary medical center from December 2020 to August 2022. A physician performed the TTUS in real time and recorded the tube placement assessment. Another healthcare provider attached waveform capnography to the tube and recorded end-tidal carbon dioxide (EtCO2) after five ventilations. The accuracy and agreement of both methods compared with direct laryngoscopic visualization of tube placement, and the time taken by both methods was evaluated. Thirty-three patients with cardiac arrest were analyzed. TTUS confirmed tube placement with 100% accuracy, sensitivity, and specificity, whereas capnography demonstrated 97% accuracy, 96.8% sensitivity, and 100% specificity. The Kappa values for TTUS and capnography compared to direct visualization were 1.0 and 0.7843, respectively. EtCO2 was measured in 45 (37-59) seconds (median (interquartile range)), whereas TTUS required only 12 (8-23) seconds, indicating that TTUS was significantly faster (p < 0.001). No significant correlation was found between the physician's TTUS proficiency and image acquisition time. This study demonstrated that TTUS is more accurate and faster than EtCO2 measurement for confirming endotracheal tube placement during CPR, particularly in the context of PAPR usage in pandemic conditions.

11.
Genome Med ; 16(1): 20, 2024 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-38297291

RESUMO

BACKGROUND: Recent studies using single-cell transcriptomic analysis have reported several distinct clusters of neoplastic epithelial cells and cancer-associated fibroblasts in the pancreatic cancer tumor microenvironment. However, their molecular characteristics and biological significance have not been clearly elucidated due to intra- and inter-tumoral heterogeneity. METHODS: We performed single-cell RNA sequencing using enriched non-immune cell populations from 17 pancreatic tumor tissues (16 pancreatic cancer and one high-grade dysplasia) and generated paired spatial transcriptomic data from seven patient samples. RESULTS: We identified five distinct functional subclusters of pancreatic cancer cells and six distinct cancer-associated fibroblast subclusters. We deeply profiled their characteristics, and we found that these subclusters successfully deconvoluted most of the features suggested in bulk transcriptome analysis of pancreatic cancer. Among those subclusters, we identified a novel cancer cell subcluster, Ep_VGLL1, showing intermediate characteristics between the extremities of basal-like and classical dichotomy, despite its prognostic value. Molecular features of Ep_VGLL1 suggest its transitional properties between basal-like and classical subtypes, which is supported by spatial transcriptomic data. CONCLUSIONS: This integrative analysis not only provides a comprehensive landscape of pancreatic cancer and fibroblast population, but also suggests a novel insight to the dynamic states of pancreatic cancer cells and unveils potential therapeutic targets.


Assuntos
Carcinoma Ductal Pancreático , Neoplasias Pancreáticas , Humanos , Transcriptoma , Carcinoma Ductal Pancreático/genética , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patologia , Perfilação da Expressão Gênica , Prognóstico , Microambiente Tumoral/genética , Análise de Célula Única , Proteínas de Ligação a DNA/genética , Fatores de Transcrição/genética
12.
Nat Metab ; 6(5): 847-860, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38811804

RESUMO

Adipose tissues serve as an energy reservoir and endocrine organ, yet the mechanisms that coordinate these functions remain elusive. Here, we show that the transcriptional coregulators, YAP and TAZ, uncouple fat mass from leptin levels and regulate adipocyte plasticity to maintain metabolic homeostasis. Activating YAP/TAZ signalling in adipocytes by deletion of the upstream regulators Lats1 and Lats2 results in a profound reduction in fat mass by converting mature adipocytes into delipidated progenitor-like cells, but does not cause lipodystrophy-related metabolic dysfunction, due to a paradoxical increase in circulating leptin levels. Mechanistically, we demonstrate that YAP/TAZ-TEAD signalling upregulates leptin expression by directly binding to an upstream enhancer site of the leptin gene. We further show that YAP/TAZ activity is associated with, and functionally required for, leptin regulation during fasting and refeeding. These results suggest that adipocyte Hippo-YAP/TAZ signalling constitutes a nexus for coordinating adipose tissue lipid storage capacity and systemic energy balance through the regulation of adipocyte plasticity and leptin gene transcription.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal , Adipócitos , Tecido Adiposo , Metabolismo Energético , Via de Sinalização Hippo , Leptina , Proteínas Serina-Treonina Quinases , Transdução de Sinais , Proteínas de Sinalização YAP , Animais , Leptina/metabolismo , Proteínas Serina-Treonina Quinases/metabolismo , Camundongos , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas de Sinalização YAP/metabolismo , Tecido Adiposo/metabolismo , Adipócitos/metabolismo , Proteínas de Ciclo Celular/metabolismo , Proteínas de Ciclo Celular/genética , Fatores de Transcrição/metabolismo , Fatores de Transcrição/genética , Proteínas com Motivo de Ligação a PDZ com Coativador Transcricional/metabolismo , Fosfoproteínas/metabolismo , Fosfoproteínas/genética , Proteínas Supressoras de Tumor/metabolismo , Proteínas Supressoras de Tumor/genética , Transativadores/metabolismo , Transativadores/genética
13.
Nutrients ; 15(24)2023 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-38140370

RESUMO

BACKGROUND: Healthy eating behaviors may be related to mental health and health-related quality of life. This study investigates the associations between diet quality, mental health, and health-related quality of life among men and women in Korea. METHODS: A total of 6823 participants, aged 19, from the 7th Korea National Health and Nutrition Examination Survey from 2016 to 2018 were included. Their overall diet quality was estimated using the Korean Healthy Eating Index (KHEI). Multivariate logistic regression was used to identify the associations between diet quality, mental health, and quality of life. RESULTS: The prevalence of stress perception and depression was highest in the lowest tertile of the KHEI score and higher for women than men. Among men, a significant association was observed only for stress perception and depressive symptoms in the second tertile, with odds ratios of 0.745 (95% CI, 0.585-0.949) and 0.519 (95% CI, 0.275-0.980). In contrast, the multivariate-adjusted odds ratios for stress perception, depressive symptoms, and low EQ-5D index among women in the highest tertile were 0.668 (95% CI, 0.541-0.823), 0.464 (95% CI, 0.288-0.746), and 0.722 (95% CI, 0.566-0.920), and significant dose-response associations were observed. CONCLUSIONS: A higher-quality diet was associated with a lower risk of stress and depression and a better quality of life. Thus, healthy eating behaviors may improve mental health and quality of life.


Assuntos
Saúde Mental , Qualidade de Vida , Masculino , Humanos , Feminino , Qualidade de Vida/psicologia , Inquéritos Nutricionais , Dieta Saudável , Comportamento Alimentar , República da Coreia/epidemiologia
14.
Front Genet ; 14: 1297543, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38107468

RESUMO

Background: Alpha-mannosidosis caused by mutations in the MAN2B1 gene is a rare genetic disorder characterized by physical abnormalities and intellectual disabilities. The objective of this study was to analyze the carrier frequency and estimated incidence of alpha-mannosidosis in East Asian populations, as limited data exists on its incidence in this group. Methods: In this study, a total of 125,748 exomes from the gnomAD database was analyzed. Additionally, 5,305 data from the KOVA and 1,722 data from the KRGDB, both representing Korean populations, were included. Results: The global carrier frequency of alpha-mannosidosis in gnomAD was 0.23%; the highest carrier frequency was observed in the Finnish at 0.49%, and East Asians had the second highest carrier frequency at 0.30%. Globally, the approximate incidence of alpha-mannosidosis was calculated at 1 in 784,535, l in 166,801 Europeans (Finnish), and l in 431,689 East Asians. By integrating the data from the 8,936 Koreans in gnomAD Korean, KOVA and KRGDB, the carrier frequency of alpha-mannosidosis in the Korean population was 0.04% and estimated incidence was 1 in 19,963,024. Conclusion: This study is the first to investigate the carrier frequencies of alpha-mannosidosis in East Asians and Koreans, including specific subpopulations, utilizing gnomAD and the Korean genomic database. The variant spectrum of MAN2B1 genes in East Asians showed significant differences compared to other ethnic groups. Our data provide valuable reference information for future investigations into alpha-mannosidosis, aiding in understanding the genetic diversity and specific variants associated with the condition in East Asian populations.

15.
West J Emerg Med ; 24(6): 1056-1063, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38165187

RESUMO

Introduction: In this study we aimed to investigate the prognostic accuracy for predicting in-hospital mortality using respiratory Sequential Organ Failure Assessment (SOFA) scores by the conventional method of missing-value imputation with normal partial pressure of oxygen (PaO2)- and oxygen saturation (SpO2)-based estimation methods. Methods: This was a single-center, retrospective cohort study of patients with suspected infection in the emergency department. The primary outcome was in-hospital mortality. We compared the area under the receiver operating characteristics curve (AUROC) and calibration results of the conventional method (normal value imputation for missing PaO2) and six SpO2-based methods: using methods A, B, PaO2 is estimated by dividing SpO2 by a scale; with methods C and D, PaO2 was estimated by a mathematical model from a previous study; with methods E, F, respiratory SOFA scores was estimated by SpO2 thresholds and respiratory support use; with methods A, C, E are SpO2-based estimation for all PaO2 values, while methods B, D, F use such estimation only for missing PaO2 values. Results: Among the 15,119 patients included in the study, the in-hospital mortality rate was 4.9%. The missing PaO2was 56.0%. The calibration plots were similar among all methods. Each method yielded AUROCs that ranged from 0.735-0.772. The AUROC for the conventional method was 0.755 (95% confidence interval [CI] 0.736-0.773). The AUROC for method C (0.772; 95% CI 0.754-0.790) was higher than that of the conventional method, which was an SpO2-based estimation for all PaO2 values. The AUROC for total SOFA score from method E (0.815; 95% CI 0.800-0.831) was higher than that from the conventional method (0.806; 95% CI 0.790-0.822), in which respiratory SOFA was calculated by the predefined SpO2 cut-offs and oxygen support. Conclusion: In non-ICU settings, respiratory SOFA scores estimated by SpO2 might have acceptable prognostic accuracy for predicting in-hospital mortality. Our results suggest that SpO2-based respiratory SOFA score calculation might be an alternative for evaluating respiratory organ failure in the ED and clinical research settings.


Assuntos
Escores de Disfunção Orgânica , Insuficiência Respiratória , Humanos , Mortalidade Hospitalar , Estudos Retrospectivos , Prognóstico , Oxigênio , Insuficiência Respiratória/diagnóstico , Unidades de Terapia Intensiva
16.
J Pers Med ; 14(1)2023 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-38248758

RESUMO

Bacteremia is a life-threatening condition that has increased in prevalence over the past two decades. Prompt recognition of bacteremia is important; however, identification of bacteremia requires 1 to 2 days. This retrospective cohort study, conducted from 10 November 2014 to November 2019, among patients with suspected infection who visited the emergency department (ED), aimed to develop and validate a simple tool for predicting bacteremia. The study population was randomly divided into derivation and development cohorts. Predictors of bacteremia based on the literature and logistic regression were assessed. A weighted value was assigned to predictors to develop a prediction model for bacteremia using the derivation cohort; discrimination was then assessed using the area under the receiver operating characteristic curve (AUC). Among the 22,519 patients enrolled, 18,015 were assigned to the derivation group and 4504 to the validation group. Sixteen candidate variables were selected, and all sixteen were used as significant predictors of bacteremia (model 1). Among the sixteen variables, the top five with higher odds ratio, including procalcitonin, neutrophil-lymphocyte ratio (NLR), lactate level, platelet count, and body temperature, were used for the simple bacteremia score (model 2). The proportion of bacteremia increased according to the simple bacteremia score in both cohorts. The AUC for model 1 was 0.805 (95% confidence interval [CI] 0.785-0.824) and model 2 was 0.791 (95% CI 0.772-0.810). The simple bacteremia prediction score using only five variables demonstrated a comparable performance with the model including sixteen variables using all laboratory results and vital signs. This simple score is useful for predicting bacteremia-assisted clinical decisions.

17.
Surgery ; 172(6): 1866-1872, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38375788

RESUMO

BACKGROUND: This study was performed to examine the association between hospital volume and mortality in people with disability. METHODS: A retrospective cohort study was conducted using a data set linking the Korean National Health Service database, disability registration data, and Korean Central Cancer Registry data. Data was gathered from all patients undergoing the four major surgical procedures for cancer care during an 11-year period from 2003 to 2013. RESULTS: For all procedures, patients with disability were more likely to visit low-volume hospitals compared with those without disability. The 30-day mortality rate after each type of surgery at low-surgery-volume hospitals was higher in patients with disability; especially, the mortality rates after colectomy were 1.1% for patients without disabilities and 2.6% for patients severely disabilities. In univariate logistic regression analyses, patients with disability, especially those with severe or intellectual/psychological disabilities, were significantly less likely to undergo treatment at a high-volume hospital compared with patients without disability. In contrast, multiple logistic regression analysis indicated that patients with disability were significantly more likely to undergo gastrectomy (OR 3.76, 95% CI 1.64-8.58), colectomy (OR 3.08, 95% CI 1.46-6.48), and mastectomy (OR 3.92, 95% CI 1.25-12.33) at a high-volume hospital compared with patients without disability. CONCLUSION: Public health policies should focus on patients with disability to reduce health disparities and educate health care professionals, as well as the patients and their families, to alleviate negative perceptions about the need for equal diagnosis and treatment.


Assuntos
Neoplasias da Mama , Pessoas com Deficiência , Humanos , Feminino , Estudos Retrospectivos , Medicina Estatal , Mastectomia , Hospitais com Alto Volume de Atendimentos
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