scholarly journals Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumonia

2021 ◽  
Vol 1 (1) ◽  
Author(s):  
S. V. Mikhailova ◽  
L. V. Shcherbakova ◽  
N. I. Logvinenko ◽  
I. I. Logvinenko ◽  
M. I. Voevoda

The innate immune system is the first to respond to invading pathogens. It is responsible for invader recognition, immune-cell recruitment, adaptive-immunity activation, and regulation of inflammation intensity. Previously, two single-nucleotide polymorphisms of innate-immunity genes – rs5743708 (Arg753Gln) of the TLR2 gene and rs8177374 (Ser180Leu) of the TIRAP gene – have been shown to be associated with both pneumonia and tuberculosis in humans, but the data are contradictory among different ethnic groups. It has also been reported that rs10902158 at the PKP3-SIGGIR-TMEM16J genetic locus belongs to a haplotype race-specifically associated with tuberculosis. Meanwhile, a gradient of its frequency is observed in Asia. The aim of this work was to assess the effect of selection for the genotypes of the above-mentioned SNPs on the gene pools of populations living in harsh climatic conditions that contribute to the development of infectious lung diseases. We estimated the prevalence of these variants in white and Asian (Chukchis and Yakuts) population samples from Northern Asia and among patients with community-acquired pneumonia (CAP). Carriage of the rs5743708 A allele was found to predispose to severe CAP (odds ratio 2.77, p = 0.021), whereas the GG/CT genotype of rs5743708/rs8177374 proved to be protective against it (odds ratio 0.478, p = 0.022) in white patients. No association of rs10902158 with CAP (total or severe) was found among whites. Stratification of CAP by causative pathogen may help eliminate the current discrepancies between different studies. No significant difference in rs5743708 or rs8177374 was found between adolescent and long-lived white samples. Carriage of the alleles studied is probably not associated with predisposition to longevity among whites in Siberia. Both white and Asian populations studied were different from Western European and East Asian populations in the variants’ prevalence. The frequency of the rs8177374 T (Ser180Leu) variant was significantly higher in the Chukchi sample (p = 0, χ2 = 63.22) relative to the East Asian populations. This result may confirm the hypothesis about the selection of this allele in the course of human migration into areas with unfavorable climatic conditions. 

Neurosurgery ◽  
2019 ◽  
Vol 66 (Supplement_1) ◽  
Author(s):  
Museung Park ◽  
Yong-Jun Cho ◽  
Jin Sue Jeon

Abstract INTRODUCTION Genome-wide association studies have revealed an association between SRY (Sex Determining Region Y)-box 17 (SOX17) gene and intracranial aneurysm (IA) formation. However, results were mainly derived from European and Japanese populations. We investigated the association between SOX17 gene polymorphisms and IA in a homogeneous Korean population. We performed a meta-analysis to assess these results in East-Asian populations. METHODS This cross-sectional study included 187 age- and sex-matched patients with IA and 372 control subjects. Genetic association analysis was performed in the generalized linear model to identify associations between 4 single nucleotide polymorphisms and IA, including 95 patients with ruptured aneurysms and 92 with unruptured aneurysms. The East-Asian meta-analysis of 5100 IA cases and 7930 control cases was conducted under an inverse variance model. RESULTS Among 4 single nucleotide polymorphisms that passed quality control tests, the minor C allele of rs1072737 was significantly associated with IA (odds ratio 0.69, 95% confidence interval 0.49-0.96, P = .03). None of the 4 single nucleotide polymorphisms showed a significant association between patients with ruptured and unruptured aneurysms. Meta-analysis revealed that G alleles of rs10958409 and rs9298506 were significantly associated with IA in the East-Asian population after removing study heterogeneity (odds ratio 1.11, 95% confidence interval 1.04-1.19, P = .0023 and odds ratio 1.19, 95% confidence interval 1.07-1.32, P = .0016). CONCLUSION Identification of genetic variants located near SOX17 is likely to be clinically significant for IA formation. rs10958409 and rs9298506 may increase risk of IA in East-Asian populations. Our findings may help in the identification of IA pathogenesis.


2018 ◽  
Author(s):  
Fernando A. Villanea ◽  
Joshua G. Schraiber

1AbstractNeandertals and anatomically modern humans overlapped geographically for a period of over 30,000 years following human migration out of Africa. During this period, Neandertals and humans interbred, as evidenced by Neandertal portions of the genome carried by non-African individuals today. A key observation is that the proportion of Neandertal ancestry is ∼12-20% higher in East Asian individuals relative to European individuals. Here, we explore various demographic models that could explain this observation. These include distinguishing between a single admixture event and multiple Neandertal contributions to either population, and the hypothesis that reduced Neandertal ancestry in modern Europeans resulted from more recent admixture with a ghost population that lacked a Neandertal ancestry component (the “dilution” hypothesis). In order to summarize the asymmetric pattern of Neandertal allele frequencies, we compile the joint fragment frequency spectrum (FFS) of European and East Asian Neandertal fragments and compare it to both analytical theory and data simulated under various models of admixture. Using maximum likelihood and machine learning, we found that a simple model of a single admixture does not fit the empirical data, and instead favor a model of multiple episodes of gene flow into both European and East Asian populations. These findings indicate more long-term, complex interaction between humans and Neandertals than previously appreciated.


Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 1188-P
Author(s):  
JOAO M. CONCEICAO ◽  
CLAUDIO D. GONZALEZ ◽  
SAMUEL S. ENGEL ◽  
JONGHO AHN ◽  
SHIGERU TOKITA ◽  
...  

2020 ◽  
Vol 36 (05) ◽  
pp. 592-601
Author(s):  
Stephanie Ming Young ◽  
Yoon-Duck Kim

AbstractDouble eyelid surgery remains one of the most popular aesthetic surgeries, especially among East Asian populations. Complications related to double eyelid surgery can be divided into various categories: (1) patient dissatisfaction, (2) problems with the eyelid crease, (3) problems with the eyelid height, (4) suture-related complications, and (5) complications related to eyelid surgery in general. As with all eyelid surgeries, it is important to understand and appreciate the normal and abnormal function and anatomy of the Asian eyelid to reduce the risk of complications. It is also important to recognize the various complications and their underlying causes so that the surgeon can confidently revise the surgery to achieve optimal outcomes.


2020 ◽  
Vol 41 (S1) ◽  
pp. s302-s302
Author(s):  
Amanda Barner ◽  
Lou Ann Bruno-Murtha

Background: The Infectious Diseases Society of America released updated community-acquired pneumonia (CAP) guidelines in October 2019. One of the recommendations, with a low quality of supporting evidence, is the standard administration of antibiotics in adult patients with influenza and radiographic evidence of pneumonia. Procalcitonin (PCT) is not endorsed as a strategy to withhold antibiotic therapy, but it could be used to de-escalate appropriate patients after 48–72 hours. Radiographic findings are not indicative of the etiology of pneumonia. Prescribing antibiotics for all influenza-positive patients with an infiltrate has significant implications for stewardship. Therefore, we reviewed hospitalized, influenza-positive patients at our institution during the 2018–2019 season, and we sought to assess the impact of an abnormal chest x-ray (CXR) and PCT on antibiotic prescribing and outcomes. Methods: We conducted a retrospective chart review of all influenza-positive admissions at 2 urban, community-based, teaching hospitals. Demographic data, vaccination status, PCT levels, CXR findings, and treatment regimens were reviewed. The primary outcome was the difference in receipt of antibiotics between patients with a negative (<0.25 ng/mL) and positive PCT. Secondary outcomes included the impact of CXR result on antibiotic prescribing, duration, 30-day readmission, and 90-day mortality. Results: We reviewed the medical records of 117 patients; 43 (36.7%) received antibiotics. The vaccination rate was 36.7%. Also, 11% of patients required intensive care unit (ICU) admission and 84% received antibiotics. Moreover, 109 patients had a CXR: 61 (55.9%) were negative, 29 (26.6%) indeterminate, and 19 (17.4%) positive per radiologist interpretation. Patients with a positive PCT (OR, 12.7; 95% CI, 3.43–60.98; P < .0007) and an abnormal CXR (OR, 7.4; 95% CI, 2.9–20.1; P = .000003) were more likely to receive antibiotics. There was no significant difference in 30-day readmission (11.6% vs 13.5%; OR, 0.89; 95% CI, 0.21–3.08; P = 1) and 90-day mortality (11.6% vs 5.4%; OR, 2.37; 95% CI, 0.48–12.75; P = .28) between those that received antibiotics and those that did not, respectively. Furthermore, 30 patients (62.5%) with an abnormal CXR received antibiotics and 21 (43.7%) had negative PCT. There was no difference in 30-day readmission or 90-day mortality between those that did and did not receive antibiotics. Conclusions: Utilization of PCT allowed selective prescribing of antibiotics without impacting readmission or mortality. Antibiotics should be initiated for critically ill patients and based on clinical judgement, rather than for all influenza-positive patients with CXR abnormalities.Funding: NoneDisclosures: None


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dongdong Gu ◽  
Liyun Chen ◽  
Fei Shan ◽  
Liming Xia ◽  
Jun Liu ◽  
...  

Abstract Background Spatial and temporal lung infection distributions of coronavirus disease 2019 (COVID-19) and their changes could reveal important patterns to better understand the disease and its time course. This paper presents a pipeline to analyze statistically these patterns by automatically segmenting the infection regions and registering them onto a common template. Methods A VB-Net is designed to automatically segment infection regions in CT images. After training and validating the model, we segmented all the CT images in the study. The segmentation results are then warped onto a pre-defined template CT image using deformable registration based on lung fields. Then, the spatial distributions of infection regions and those during the course of the disease are calculated at the voxel level. Visualization and quantitative comparison can be performed between different groups. We compared the distribution maps between COVID-19 and community acquired pneumonia (CAP), between severe and critical COVID-19, and across the time course of the disease. Results For the performance of infection segmentation, comparing the segmentation results with manually annotated ground-truth, the average Dice is 91.6% ± 10.0%, which is close to the inter-rater difference between two radiologists (the Dice is 96.1% ± 3.5%). The distribution map of infection regions shows that high probability regions are in the peripheral subpleural (up to 35.1% in probability). COVID-19 GGO lesions are more widely spread than consolidations, and the latter are located more peripherally. Onset images of severe COVID-19 (inpatients) show similar lesion distributions but with smaller areas of significant difference in the right lower lobe compared to critical COVID-19 (intensive care unit patients). About the disease course, critical COVID-19 patients showed four subsequent patterns (progression, absorption, enlargement, and further absorption) in our collected dataset, with remarkable concurrent HU patterns for GGO and consolidations. Conclusions By segmenting the infection regions with a VB-Net and registering all the CT images and the segmentation results onto a template, spatial distribution patterns of infections can be computed automatically. The algorithm provides an effective tool to visualize and quantify the spatial patterns of lung infection diseases and their changes during the disease course. Our results demonstrate different patterns between COVID-19 and CAP, between severe and critical COVID-19, as well as four subsequent disease course patterns of the severe COVID-19 patients studied, with remarkable concurrent HU patterns for GGO and consolidations.


2021 ◽  
pp. 159101992110183
Author(s):  
Bingyang Zhao ◽  
Xinzhao Jiang ◽  
Pei Wang ◽  
Zhongyu Zhao ◽  
Jing Mang ◽  
...  

Objective To investigate whether staged angioplasty (SAP) is a safe and effective treatment to prevent hyperperfusion syndrome after carotid artery stenting (CAS). Methods A systematic literature search was performed according to established criteria to identify eligible articles published before October 2020. Pooled dichotomous data were presented as odds ratios (OR) and corresponding 95% confidence intervals (CI) using random-effect models. The efficacy endpoints were hyperperfusion syndrome (HPS), hyperperfusion phenomenon (HPP), and intracerebral hemorrhage (ICH). The safety endpoint was post-procedural thromboembolic events. The feasibility of the procedure was assessed by device-related adverse events (vessel dissection and failed angioplasty) in SAP. Results Ten studies (1030 participants) were eligible. SAP was superior to regular CAS in preventing HPS (OR = 0.35, 95% CI 0.14–0.86, P = 0.02). There was no significant difference in the rate of thromboembolic events between the SAP group and the regular CAS group. The rates of vessel dissection and failed angioplasty with the use of a 3.0-mm-diameter balloon were 5.4% and 0.4%, respectively. Conclusion SAP may reduce the incidence of post-CAS HPS without increasing procedure-related complications. A 3.0-mm-diameter balloon used in SAP may be appropriate for Asian populations. However, the confounded study design and confused definitions of reporting items hinder the current recommendation of SAP in clinical use.


2021 ◽  
Vol 49 (3) ◽  
pp. 030006052199295
Author(s):  
Yijuan Xin ◽  
Liu Yang ◽  
Mingquan Su ◽  
Xiaoli Cheng ◽  
Lin Zhu ◽  
...  

Objectives To investigate the association between poly(ADP-ribose) polymerase 1 ( PARP1) rs1136410 Val762Ala and cancer risk in Asian populations, as published findings remain controversial. Methods The PubMed and EMBASE databases were searched, and references of identified studies and reviews were screened, to find relevant studies. Meta-analyses were performed to evaluate the association between PARP1 rs1136410 Val762Ala and cancer risk, reported as odds ratio (OR) and 95% confidence interval (CI). Results A total of 24 studies with 8 926 cases and 15 295 controls were included. Overall, a significant association was found between PARP1 rs1136410 Val762Ala and cancer risk in East Asians (homozygous: OR 1.19, 95% CI 1.06, 1.35; heterozygous: OR 1.10, 95% CI 1.04, 1.17; recessive: OR 1.13, 95% CI 1.02, 1.25; dominant: OR 1.13, 95% CI 1.06, 1.19; and allele comparison: OR 1.09, 95% CI 1.03, 1.15). Stratification analyses by race and cancer type revealed similar results for gastric cancer among the Chinese population. Conclusion The findings suggest that PARP1 rs1136410 Val762Ala may be significantly associated with an increased cancer risk in Asians, particularly the Chinese population.


Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 439
Author(s):  
Donato Lacedonia ◽  
Giulia Scioscia ◽  
Angelamaria Giardinelli ◽  
Carla Maria Irene Quarato ◽  
Ennio Vincenzo Sassani ◽  
...  

Transthoracic ultrasound (TUS) is a readily available imaging tool that can provide a quick real-time evaluation. The aim of this preliminary study was to establish a complementary role for this imaging method in the approach of interstitial lung diseases (ILDs). TUS examination was performed in 43 consecutive patients with pulmonary fibrosis and TUS findings were compared with the corresponding high-resolution computed tomography (HRCT) scans. All patients showed a thickened hyperechoic pleural line, despite no difference between dominant HRCT patterns (ground glass, honeycombing, mixed pattern) being recorded (p > 0.05). However, pleural lines’ thickening showed a significant difference between different HRCT degree of fibrosis (p < 0.001) and a negative correlation with functional parameters. The presence of >3 B-lines and subpleural nodules was also assessed in a large number of patients, although they did not demonstrate any particular association with a specific HRCT finding or fibrotic degree. Results allow us to suggest a complementary role for TUS in facilitating an early diagnosis of ILD or helping to detect a possible disease progression or eventual complications during routine clinical practice (with pleural line measurements and subpleural nodules), although HRCT remains the gold standard in the definition of ILD pattern, disease extent and follow-up.


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