Frontiers in Medicine最新文献

Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal hematopoietic stem cell disease characterized by acquired abnormalities in the phosphatidylinositol glycan class A (PIG-A) gene.

Methods: This study analyzed PIG-A gene using polymerase chain reaction (PCR) followed by Sanger sequencing of 31 Brazilian patients with PNH, including 23 with classical PNH and 8 with subclinical PNH (aplastic anemia and a PNH clone).

Results: A diverse spectrum of acquired PIG-A variants was identified, encompassing insertions, deletions, and single-base substitutions. The majority of variants identified (17 out of 29) were deemed likely pathogenic for paroxysmal nocturnal hemoglobinuria (PNH). Six variants have undetermined significance (VUS) and six variants are probably benign. Somatic variants exhibited variability in type and location among the patients, with a predominance of small deletions and simple base changes. Notably, 41% of the variants were frameshift and 35% were missense. Among the 23 patients with hemolytic PNH, 19 had at least one detectable pathogenic variant. Subclinical PNH cases were characterized solely by polymorphisms.

Conclusion: In conclusion, the somatic variants in Brazilian PNH patients displayed variability in both site distribution and type. Contrary to mutational hotspots observed in previous studies, none were identified in this cohort. No specific correlation between the clinical characteristics of hemolytic PNH patients and their variants was found, likely due to the extensive variety of mutations.

Respiratory diseases rank among the foremost causes of mortality and disability globally, with long-term exposure to environmental pollutants playing a critical role in their onset and progression. Despite this, the underlying mechanisms and effective targeted treatments for these disorders remain poorly understood, highlighting an urgent need for focused research. Cell death, a programmed cellular response to external harmful stimuli, including ferroptosis-a recently identified form of iron-dependent programmed cell death-emerges as a pivotal process. Characterized by intracellular iron accumulation and lipid peroxidation, ferroptosis appears intricately linked to lung injury induced by environmental pollutants. This review examines the role of ferroptosis in lung diseases triggered by environmental factors, aiming to shed light on its specific pathophysiological mechanisms and potential as a therapeutic target. By deepening our understanding of the interactions between environmental pollution, ferroptosis, and lung damage, we hope to inform strategies for effective intervention.

Introduction: Obstetric hemorrhage is one of the leading causes of maternal mortality and morbidity worldwide. One of the major risk factors of obstetric hemorrhage include placenta previa and placenta accreta spectrum (PAS) disorders. The frequency of PAS disorders is increasing worldwide and is accompanied by massive intraoperative bleeding with hemorrhagic shock and increasing rates of cesarean hysterectomy. To decrease the risks of bleeding, various approaches to endovascular balloon occlusion have been tested during the past decade.

Objectives: This study aimed to evaluate the effectiveness of resuscitative endovascular balloon occlusion of the aorta (REBOA) in reducing blood loss and preserving the reproductive organs during cesarean section. Study design: This will be a prospective randomized controlled trial involving 144 patients in a tertiary care obstetric center in Kazakhstan. The study population will consist of pregnant women who will be admitted for cesarean section due to placenta previa complicated by PAS disorders. The study subjects will be randomly divided into intervention and control groups.

Results: The results will be analyzed through the measurement of primary (blood loss during cesarean section) and secondary outcomes [occurrence of hysterectomy during cesarean section, blood transfusion volume, duration of surgery, balloon application time, stay in intensive care unit (ICU), neonatal outcomes, complications, and total days of postsurgical hospital stay].

Conclusion: The use of REBOA is expected to minimize intraoperative blood loss during cesarean section, decrease the need for transfusion of blood components, reduce the time of surgical intervention, decrease the rate of maternal complications, and reduce the rate of cesarean hysterectomy.

Purpose: This study aimed to test the repeatability of visual acuity (VA) measurement using an novel intelligent projector visual acuity (IP) chart (LSJ-IVAC-6000A, Hunan Liangshi Jia Biotechnology Co., Ltd.) and the consistency of VA measurement between the IP chart and the 5 m standard logarithmic visual acuity (SL) chart (GB11533-2011).

Methods: In this prospective comparative study, 53 subjects were included to test the internal repeatability of the IP chart. Both eyes of the subjects were tested three times, with a minimum interval of 10 min. The intraclass correlation coefficient (ICC) was used to evaluate the repeatability. One hundred subjects were included to test the consistency between two charts. Both eyes of the subjects were tested with two charts in random order with an interval of 10 min for each test. ICC and the Bland-Altman statistical analyses were used to analyze the consistency of the two charts. VA values were expressed by the logMAR recording method. The time consumption for each test was recorded in seconds.

Results: In the repeatability analysis, the ICC values of the right and left eye were 0.968 (95% CI, 0.950-0.981, p < 0.001) and 0.964 (95% CI, 0.944-0.978, p < 0.001), respectively. In the consistency analysis, the ICC values of the right and left eye were 0.946 (95% CI, 0.919-0.963, p < 0.001) and 0.817 (95% CI, 0.727-0.877, p < 0.001), respectively. However, the 95% limits of agreement (LoA) of the differences in the VA measurements between the IP and SL chart for the right and left eye were -0.26 to 0.31 and -0.34 to 0.39, respectively, suggesting a certain degree of instability in the measurements of the SL chart. There was no significant difference in the time consumption of VA measurements between the two charts (p = 0.668). In the consistency analysis of subgroups by age, the ICC values were >0.8 (p < 0.001) in the most groups except for the left eyes of 51-70 years old subgroup which had an ICC value of 0.448 (95% CI, -0.919 to 0.841, p = 0.17), with 95% LoA of -1.02 to 0.77.

Conclusion: The IP chart demonstrated good repeatability and overall consistency with the SL chart.

Background: Chronic respiratory diseases (CRPD) are a global health threat characterized by oxidative stress, systemic inflammation, hypoxemia, and respiratory distress. Inflammatory indicators such as hemoglobin-to-red blood cell distribution width ratio (HRR) have been explored in relation to diseases of the respiratory system, but the correlation between HRR and pulmonary function has not been established. As part of this study, a representative sample of the National Health and Nutrition Examination Survey (NHANES) respondents aged 40 or over was used to examine the correlation between HRR and pulmonary function indices.

Methods: Data from the 2007-2012 NHANES were used for this study. HRR and four pulmonary function parameters were compared using regression and subgroup analyses. The Restricted Cubic Spline (RCS) model was employed to find out if there are any non-linear relationships between these associations. Multiple sensitivity analyses were used to verify the correlation between the two.

Results: After adjusting for confounding variables, the data showed that for each unit increase in HRR among the population as a whole, for each unit increase in HRR, FVC increased by 0.11, FEV1 increased by 0.22, peak expiratory flow (PEF) increased by 0.24 and forced expiratory flow at 25-75% (FEF25-75%) was elevated by 0.49. In addition, we determined linear and positive correlations between FVC, FEV1, PEF or PEF 25-75% and HRR by constructing the RCS model curves. The positive correlation between HRR and pulmonary function parameters was affirmed through sensitivity analysis. Furthermore, except for the PEF 25-75%, FVC, FEV1, PEF all showed a significant upward trend with the increase of HRR in non-Hispanic white female population.

Conclusion: According to our study, HRR was positively correlated with FVC, FEV1, PEF, and PEF25-75% in a middle-aged and older adult US population. It would be useful to study the specific impact of HRR on pulmonary function and to investigate the potential pathophysiological mechanisms that might link them.

Background: Chronic obstructive pulmonary disease (COPD) has become a major global healthcare issue due to its high prevalence and mortality rates. Increasing evidence suggests that autophagy plays a role in the development of COPD, yet there is a lack of bibliometric analyses on literature related to autophagy and COPD. Therefore, this study aims to summarize the current research status, research direction, and research hotspots in the literature related to COPD and autophagy.

Methods: A search was conducted on the Web of Science Core Collection for literature related to COPD and autophagy from October 2004 to October 2024. Subsequently, bibliometric and visualization analyses were performed on the included publications using R software, CiteSpace, and VOSviewer.

Results: A total of 481 published articles across 229 journals related to COPD and autophagy were included. During the study period, there was a trend of continuous growth in both the annual number of publications and citations in this field. The United States had the highest centrality, while China was the most productive country. Major research institutions included Maastricht University, Harvard University, and Jikei University. The American Journal of Physiology-Lung Cellular and Molecular Physiology, International Journal of Chronic Obstructive Pulmonary Disease, and Autophagy are the most influential journals in this field. The author with the most published papers is Araya J, while Choi AMK is the most influential author. Frequently appearing keywords include "oxidative stress," "obstructive pulmonary disease," "aging," "apoptosis," and "mitophagy."

Conclusion: This bibliometric study helps researchers quickly understand the research overview of autophagy and COPD, thus providing new insights and directions for future research in this field.

The etiology of cholestatic liver disease is complex, with clinical manifestations being nonspecific, and biochemical abnormalities mainly characterized by elevated alkaline phosphatase (ALP) and glutamyl transpeptidase (GGT). Due to the lack of specific symptoms and diverse causes, the diagnosis poses certain challenges. Here, we present a case of liver cirrhosis with predominant cholestatic features of unknown etiology. Despite multiple comprehensive routine etiological screenings and liver biopsies, the diagnosis remained unclear. Subsequent whole exome sequencing revealed the diagnosis of liver cirrhosis caused by familial cholestasis related to a mutation in the ZFYVE19 gene. Through this case report analysis, we aim to broaden the diagnostic approach for cholestatic liver disease of unknown etiology, identify the cause accurately, and intervene promptly.

Background: Biological age (BA) is regarded as a more accurate marker of aging than chronological age and is commonly used to assess associations with age-related diseases. The relationship between BA measures and the colorectal cancer (CRC) has not yet been investigated.

Methods: This study utilized data from the National Health and Nutrition Examination Survey. BA was quantified using the Klemera-Doubal method age (KDMAge) and phenotypic age (PhenoAge), based on 13 common clinical biomarkers. The prevalence of CRC across quartiles of BA indicators was compared using weighted Chi-square tests. Weighted multivariable logistic regression models were used to assess the association between BA indicators and CRC.

Results: A total of 36,684 participants were included. The weighted prevalence of CRC showed a significant and consistent upward trend across ascending quartiles of chronological age, KDMAge, and PhenoAge, even within gender and age subgroups (all P for trend < 0.05). In the total population and gender subgroups, higher quartiles of PhenoAge acceleration showed a higher weighted prevalence of CRC compared to lower quartiles (P for trend < 0.05). Accelerated PhenoAge was significantly associated with a higher prevalence of CRC (OR = 1.767, 95% CI: 1.236-2.524, P = 0.002). However, accelerated PhenoAge was associated with the increased prevalence of CRC only in individuals older than 65 years (OR = 1.655, 95% CI: 1.143-2.397, P = 0.008).

Conclusion: Biological aging are positively associated with the prevalence of CRC regardless of gender, particularly among the elderly.

Objectives: Chronic viral hepatitis B (CHB) is a prevalent liver disease with primary hepatic carcinoma (HCC) as a severe complication. Clinical prediction models have gained attention for predicting HBV-related HCC (HBV-HCC). This study aimed to evaluate the predictive value of existing models for HBV-HCC through meta-analysis.

Design: Meta-analysis.

Data sources: Embase, PubMed, the Chinese Biomedical Literature Service System, and the Cochrane database were used for searches between 1970 and 2022.

Methods: A meta-analysis was conducted to assess original studies on HBV-HCC prediction models. The REACH-B, GAGHCC, and CUHCC models were externally validated in a Guangxi cohort. The C-index and calibration curve evaluated 5 years predictive performance, with subgroup analysis by region and risk bias.

Results: After screening, 27 research articles were included, covering the GAGHCC, REACH-B, PAGE-B, CU-HCC, CAMD, and mPAGE-B models. The meta-analysis indicated that these models had moderate discrimination in predicting HCC risk in HBV-infected patients, with C-index values from 0.75 to 0.82. The mPAGE-B (0.79, 95% CI: 0.79-0.80), GAG-HCC (0.80, 95% CI: 0.78-0.82), and CAMD (0.80, 95% CI: 0.78-0.81) models demonstrated better discrimination than others (P < 0.05), but most studies did not report model calibration. Subgroup analysis suggested that ethnicity and research bias might contribute to differences in model discrimination. Sensitivity analysis indicated stable meta-analysis results. The REACH-B, GAGHCC, CUHCC, PAGE-B, and mPAGE-B models had average predictive performance in Guangxi, with medium to low 3 and 5 years HCC risk prediction discrimination.

Conclusion: Existing models have predictive value for HBV-infected patients but show geographical limitations and reduced effectiveness in Guangxi.