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Prospective study of peripartum group B streptococcus colonization in Japanese mothers and neonates. 日本母亲和新生儿围产期B群链球菌定植的前瞻性研究。
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2025-01-06 DOI: 10.1017/S0950268824001560
Emiko Yoshida, Jun Takeda, Yojiro Maruyama, Naoko Suga, Satoru Takeda, Hajime Arai, Atsuo Itakura, Shintaro Makino

Group B streptococcus (GBS) is a major global cause of neonatal, infant, and maternal infections. In Japan, national guidelines based on Centers for Disease Control and Prevention recommendations mandate culture-based screening and intrapartum antibiotic prophylaxis (IAP) for GBS-positive pregnant women. Despite initial reductions in GBS infections, the incidence has plateaued, and there are notable limitations in current prevention methods. Approximately 15% of pregnant women are not screened for GBS, and intermittent colonization undermines screening accuracy, contributing to early-onset disease. IAP does not prevent late-onset disease, the incidence of which is increasing in Japan. This study reviewed maternal and neonatal GBS colonization using polymerase chain reaction, evaluated capsular type distributions, and explored late-onset disease infection routes. Among 525 mother-neonate pairs, the study found a higher detection rate of GBS via polymerase chain reaction compared to culture methods and identified significant discrepancies between antepartum and intrapartum colonization. GBS was detected in 3.5% of neonates from initially negative mothers at 4 days of age. Capsular types varied between mothers and neonates, indicating potential horizontal transmission. This study underscores the need for improved rapid diagnostic tests and highlights the potential of maternal GBS vaccination as a future prevention strategy.

B群链球菌(GBS)是全球新生儿、婴儿和孕产妇感染的主要原因。在日本,基于疾病控制和预防中心建议的国家指南要求对gbs阳性孕妇进行基于培养的筛查和产时抗生素预防(IAP)。尽管GBS感染最初有所减少,但发病率已趋于稳定,目前的预防方法存在明显的局限性。大约15%的孕妇没有接受GBS筛查,间歇性定植破坏了筛查的准确性,导致早发性疾病。IAP不能预防迟发性疾病,而迟发性疾病在日本的发病率正在上升。本研究利用聚合酶链反应回顾了母体和新生儿GBS的定植,评估了荚膜类型分布,并探索了迟发性疾病的感染途径。在525对母婴中,研究发现聚合酶链反应比培养法检出率更高,并发现产前和产时定植之间存在显著差异。在最初阴性母亲出生的4日龄新生儿中,有3.5%检测到GBS。荚膜类型在母亲和新生儿之间有所不同,表明可能的水平传播。这项研究强调了改进快速诊断检测的必要性,并强调了将孕产妇GBS疫苗接种作为未来预防策略的潜力。
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引用次数: 0
Surge of human astrovirus type 1 infection in summer 2022 in Korea. 2022年夏季韩国人类1型星状病毒感染激增。
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2025-01-06 DOI: 10.1017/S0950268824000980
Su-Kyung Lee, You La Jeon, Eun-Jung Cho, Han-Sung Kim, Jae-Seok Kim, Wonkeun Song, Hyun Soo Kim

As astroviral infection rapidly increased in the summer of 2022 in Korea, this study aimed to determine the cause and genotype of astroviruses during this period. From January to December 2022, we tested 43,312 stool samples from patients with acute gastroenteritis utilizing multiplex PCR to detect HAstV. For the HAstV-positive samples, we determined the genotypes of the HAstVs by PCR and sequencing. The monthly positive rate from 2015 to 2022 showed a notable and abrupt increase of HAstV infection between June and August 2022, peaking at 9.8% in July 2022. The annual positivity rate of HAstV remained at 2-3% between 2015 and 2019, and then decreased to 0.5% in 2020, followed by an increase to 1.5% in 2021 and 3.6% in 2022.The genotyped astroviruses in 2022 were all identified as HAstV-1 type, and the nucleotide identity% among them was >99%. The GenBank accession number for the strain genetically closest to the strains identified in our study was ON571597.1, which was HAstV-1 isolated from Pingtan in 2019. Our results provide recent epidemiological data on HAstVs in Korea. The decline and surge in astrovirus positivity in recent years may be related to the COVID-19 pandemic.

随着2022年夏季韩国星状病毒感染迅速增加,本研究旨在确定这一时期星状病毒的原因和基因型。从2022年1月至12月,我们利用多重PCR检测了43312例急性胃肠炎患者的粪便样本,以检测HAstV。对于阳性样本,我们通过PCR和测序确定了hastv的基因型。2015 - 2022年的月阳性率在2022年6 - 8月呈明显的突发性上升,7月达到峰值9.8%。2015 - 2019年,哈斯特病毒的年阳性率保持在2-3%,2020年降至0.5%,2021年和2022年分别上升至1.5%和3.6%。2022年的星状病毒基因分型均鉴定为HAstV-1型,核苷酸同源性%为bb0 - 99%。与本研究鉴定的菌株基因最接近的菌株的GenBank登录号为ON571597.1,该菌株为2019年从平潭分离到的HAstV-1。我们的研究结果提供了最近在韩国的流行病学数据。近年来星状病毒阳性的下降和激增可能与COVID-19大流行有关。
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引用次数: 0
Epidemiology of invasive Escherichia coli disease in adults in England, 2013-2017. 2013-2017年英国成人侵袭性大肠杆菌病流行病学调查
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2025-01-06 DOI: 10.1017/S0950268824001584
Maxim Blum, Jeroen Geurtsen, Eva Herweijer, Michal Sarnecki, Bart Spiessens, Gil Reynolds Diogo, Peter Hermans, Simon Thelwall, Alex Bhattacharya, Thomas Verstraeten, Jan Poolman, Russell Hope

Extraintestinal pathogenic Escherichia coli (ExPEC) causes invasive E. coli disease (IED), including bacteraemia and (uro)sepsis, resulting in a high disease burden, especially among older adults. This study describes the epidemiology of IED in England (2013-2017) by combining laboratory surveillance and clinical data. A total of 191 612 IED cases were identified. IED incidence increased annually by 4.4-8.2% across all ages and 2.8-7.6% among adults ≥60 years of age. When laboratory-confirmed urosepsis cases without a positive blood culture were included, IED incidence in 2017 reached 149.4/100 000 person-years among all adults and 368.4/100 000 person-years among adults ≥60 years of age. Laboratory-confirmed IED cases were identified through E. coli-positive blood samples (55.3%), other sterile site samples (26.3%), and urine samples (16.6%), with similar proportions observed among adults ≥60 years of age. IED-associated case fatality rates ranged between 11.8-13.2% among all adults and 13.1-14.7% among adults ≥60 years of age. This study reflects the findings of other published studies and demonstrates IED constitutes a major and growing global health concern disproportionately affecting the older adult population. The high case fatality rates observed despite available antibiotic treatments emphasize the growing urgency for effective intervention strategies. The burden of urosepsis due to E. coli is likely underestimated and requires additional investigation.

肠外致病性大肠杆菌(ExPEC)引起侵袭性大肠杆菌病(IED),包括菌血症和(uro)败血症,导致很高的疾病负担,特别是在老年人中。本研究通过结合实验室监测和临床数据,描述了2013-2017年英格兰IED的流行病学。调查共发现191 612宗简易爆炸装置个案。所有年龄段的IED发病率每年增加4.4-8.2%,≥60岁的成年人每年增加2.8-7.6%。当纳入实验室确诊的无血培养阳性尿脓毒症病例时,2017年所有成年人的IED发病率为149.4/10万人-年,≥60岁的成年人的IED发病率为368.4/10万人-年。实验室确诊的IED病例通过大肠杆菌阳性血液样本(55.3%)、其他无菌部位样本(26.3%)和尿液样本(16.6%)确诊,在≥60岁的成年人中发现的比例相似。与ied相关的病死率在所有成年人中为11.8-13.2%,在≥60岁的成年人中为13.1-14.7%。这项研究反映了其他已发表研究的结果,并表明简易爆炸装置是一个日益严重的重大全球健康问题,对老年人的影响尤为严重。尽管有可用的抗生素治疗,但观察到的高病死率强调了制定有效干预策略的日益紧迫性。大肠杆菌引起的尿毒症的负担可能被低估了,需要进一步的调查。
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引用次数: 0
Case-only analysis of routine surveillance data: detection of increased vaccine breakthrough infections with SARS-CoV-2 variants in Europe. 常规监测数据的病例分析:在欧洲发现更多的SARS-CoV-2变体疫苗突破感染。
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2025-01-06 DOI: 10.1017/S0950268824001833
Jeremy Brown, Piers Mook, Maarten Vanhaverbeke, Amy Gimma, José Hagan, Isaac Singini, Mária Avdičová, Gillian Cullen, Liidia Dotsenko, Joël Mossong, Malgorzata Sadkowska-Todys, Heelene Suija, Nick Bundle, Richard Pebody

With the ongoing emergence of SARS-CoV-2 variants, there is a need for standard approaches to characterize the risk of vaccine breakthrough. We aimed to estimate the association between variant and vaccination status in case-only surveillance data. Included cases were symptomatic adult laboratory-confirmed COVID-19 cases, with onset between January 2021 and April 2022, reported by five European countries (Estonia, Ireland, Luxembourg, Poland, and Slovakia) to The European Surveillance System. Associations between variant and vaccination status were estimated using conditional logistic regression, within strata of country and calendar date, and adjusting for age and sex. We included 80,143 cases including 20,244 Alpha (B.1.1.7), 152 Beta (B.1.351), 39,900 Delta (B.1.617.2), 361 Gamma (P.1), 10,014 Omicron BA.1, and 9,472 Omicron BA.2. Partially vaccinated cases were more likely than unvaccinated cases to be Beta than Alpha (adjusted odds ratio [aOR] 2.48, 95% CI 1.29-4.74), and Delta than Alpha (aOR 1.75, 1.31-2.34). Fully vaccinated cases were relative to unvaccinated cases more frequently Beta than Alpha (aOR 4.61, 1.89-11.21), Delta than Alpha (aOR 2.30, 1.55-3.39), and Omicron BA.1 than Delta (aOR 1.91, 1.60-2.28). We found signals of increased breakthrough infections for Delta and Beta relative to Alpha, and Omicron BA.1 relative to Delta.

随着SARS-CoV-2变体的不断出现,有必要制定标准方法来描述疫苗突破的风险。我们的目的是在病例监测数据中估计变异和疫苗接种状况之间的关系。纳入的病例是由五个欧洲国家(爱沙尼亚、爱尔兰、卢森堡、波兰和斯洛伐克)向欧洲监测系统报告的2021年1月至2022年4月发病的有症状的成人COVID-19实验室确诊病例。使用条件逻辑回归,在国家和日历日期的分层内,并根据年龄和性别进行调整,估计变异和疫苗接种状况之间的关联。我们纳入了80,143例病例,包括20,244例Alpha (B.1.1.7), 152例Beta (B.1.351), 39,900例Delta (B.1.617.2), 361例Gamma (P.1), 10,014例Omicron BA.1和9,472例Omicron BA.2。部分接种疫苗的病例比未接种疫苗的病例更可能是β型而不是α型(校正比值比[aOR] 2.48, 95% CI 1.29-4.74), δ型比α型(aOR 1.75, 1.31-2.34)。完全接种疫苗的病例相对于未接种疫苗的病例β比α (aOR 4.61, 1.89-11.21), δ比α (aOR 2.30, 1.55-3.39), Omicron BA.1比δ (aOR 1.91, 1.60-2.28)更频繁。我们发现Delta和Beta相对于Alpha,以及Omicron BA.1相对于Delta的突破感染增加的信号。
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引用次数: 0
Ambient PM2.5 exposure and tuberculosis reactivation: a cross-sectional study in an intermediate burden city. 环境PM2.5暴露与结核病复发:一个中等负担城市的横断面研究。
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2025-01-02 DOI: 10.1017/S0950268824001808
Leonia Hiu Wan Lau, Ngai Sze Wong, Chi Chiu Leung, Chi Kuen Chan, Lai-Bun Tai, Alexis Kai Hon Lau, Changqing Lin, Shui Shan Lee

Hong Kong is an intermediate tuberculosis (TB) endemicity city dominated by reactivation diseases. A cross-sectional study on the clinical and epidemiologic data of newly diagnosed TB cases was conducted in such a setting, to examine the association between ambient PM2.5 and TB reactivation. After the exclusion of cases most likely resulting from recent infection, four distinct TB population phenotypes were delineated by latent class analysis based on their reactivation risk and clinical profiles (N = 2,153): 'Elderly male' (26%), 'Otherwise healthy younger adult' (34%), 'Older female' (19%) and 'Male smoker' (21%). Overall, exposure to high concentrations of ambient PM2.5 6 and 12 months before the notification was significantly associated with 'Otherwise healthy younger adults' membership (OR = 1.07 and 1.11, respectively) compared with 'Elderly male'. Such association was less evident for other phenotypes. The differential pattern of association between ambient PM2.5 exposure and TB population phenotypes suggested the role of ambient PM2.5 in TB reactivation.

香港是一个以活动性疾病为主的中级结核病流行城市。在这种情况下,对新诊断结核病病例的临床和流行病学数据进行了横断面研究,以检验环境PM2.5与结核病再激活之间的关系。在排除了最有可能由近期感染引起的病例后,根据其再激活风险和临床概况(N = 2153),通过潜在分类分析描绘了四种不同的结核病人群表型:“老年男性”(26%)、“其他健康的年轻人”(34%)、“老年女性”(19%)和“男性吸烟者”(21%)。总体而言,与“老年男性”相比,在通报前6个月和12个月暴露于高浓度环境PM2.5与“健康年轻人”成员显著相关(OR分别为1.07和1.11)。这种关联在其他表型中不太明显。环境PM2.5暴露与结核病人群表型之间的差异关联模式表明,环境PM2.5在结核病再激活中的作用。
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引用次数: 0
National outbreak of Shiga toxin-producing Escherichia coli O145:H28 associated with pre-packed sandwiches, United Kingdom, May-June 2024. 2024年5月至6月,英国与预包装三明治有关的产志贺毒素大肠杆菌O145:H28全国暴发。
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2024-12-27 DOI: 10.1017/S0950268824001729
Orlagh Quinn, Yanshi, Grace King, Ann Hoban, Clare Sawyer, Amy Douglas, Anaïs Painset, Andre Charlett, Andrew Nelson, Carys Rees, Chloe Byers, Christopher Williams, Colin Brown, Kitty Mohan, Claire Brown, Claire Jenkins, Claire Neill, Genna Leckenby, Lesley Larkin, Lesley Allison, Oluwakemi Olufon, Sema Nickbakhsh, Trish Mannes, Thomas Inns, Sooria Balasegaram

Shiga toxin-producing Escherichia coli (STEC) is a group of bacteria that causes gastrointestinal illness and occasionally causes large foodborne outbreaks. It represents a major public health concern due to its ability to cause severe illness which can sometimes be fatal. This study was undertaken as part of a rapid investigation into a national foodborne outbreak of STEC O145. On 22 May 2024, United Kingdom (UK) public health agencies and laboratories identified an increase in stool specimens submissions and patients testing positive for Shiga toxin-producing E. coli (STEC). Whole genome sequencing (WGS) identified serotype O145:H28 stx2a/eae belonging to the same five single nucleotide polymorphism (SNP) single linkage cluster as the causative agent. By 3 July 2024, 288 cases had been linked to the cluster. Most cases were adults (87%) and females (57%), 49% were hospitalized with a further 10% attending emergency care. Descriptive epidemiology and analytical studies were conducted which identified consumption of nationally distributed pre-packed sandwiches as a common food exposure. The implicated food business operators voluntarily recalled ready-to-eat sandwiches and wraps containing lettuce on 14 June 2024.

产志贺毒素的大肠杆菌(STEC)是一组引起胃肠道疾病并偶尔引起大规模食源性暴发的细菌。它是一个主要的公共卫生问题,因为它能够引起严重的疾病,有时甚至是致命的。这项研究是对全国食源性产大肠杆菌O145暴发进行快速调查的一部分。2024年5月22日,联合王国公共卫生机构和实验室发现,提交的粪便标本有所增加,患者的产志贺毒素大肠杆菌(STEC)检测呈阳性。全基因组测序(WGS)鉴定出O145:H28 stx2a/eae血清型与病原体属于相同的5个单核苷酸多态性(SNP)单连锁簇。到2024年7月3日,288例病例与该聚集性病例有关。大多数病例为成年人(87%)和女性(57%),49%住院,另有10%接受急诊治疗。进行了描述性流行病学和分析性研究,确定食用全国分发的预包装三明治是一种常见的食物暴露。受影响的食品经营者于2024年6月14日自愿召回含生菜的即食三明治和包装。
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引用次数: 0
Outbreak investigations of Salmonella and frozen raw breaded chicken: the mitigation of a significant public health issue in Canada. 沙门氏菌和冷冻生面包屑鸡的爆发调查:减轻加拿大重大公共卫生问题。
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2024-12-27 DOI: 10.1017/S0950268824001705
Ashley Kerr, Courtney R Smith, Rima Kandar, Ashley Kearney, Kelvin Chau, Bijay Adhikari, Jennifer Cutler, Eleni Galanis, Colette Gaulin, Meghan Hamel, Leigh Hobbs, Tanis Kershaw, Penelope Kirsch, Victor Mah, Rachel McCormick, Andrea Nesbitt, Alison Orr, Hanan Smadi, Marsha Taylor, April Hexemer

In May 2017, whole-genome sequencing (WGS) became the primary subtyping method for Salmonella in Canada. As a result of the increased discriminatory power provided by WGS, 16 multi-jurisdictional outbreaks of Salmonella associated with frozen raw breaded chicken products were identified between 2017 and 2019. The majority (15/16) were associated with S. enteritidis, while the remaining outbreak was associated with S. Heidelberg. The 16 outbreaks included a total of 487 cases with ages ranging from 0 to 98 years (median: 24 years); 79 hospitalizations and two deaths were reported. Over the course of the outbreak investigations, 14 frozen raw breaded chicken products were recalled, and one was voluntarily withdrawn from the market. After previous changes to labelling and the issuance of public communication for these products proved ineffective at reducing illnesses, new industry requirements were issued in 2019, which required the implementation of measures at the manufacturing/processing level to reduce Salmonella to below detectable amounts in frozen raw breaded chicken products. Since implementation, no further outbreaks of Salmonella associated with frozen breaded chicken have been identified in Canada, a testament to the effectiveness of these risk mitigation measures.

2017年5月,全基因组测序(WGS)成为加拿大沙门氏菌的主要亚型分型方法。由于WGS提供的歧视性权力增强,在2017年至2019年期间,发现了16起与冷冻生面包屑鸡肉产品相关的多辖区沙门氏菌疫情。大多数(15/16)与肠炎沙门氏菌有关,其余暴发与海德堡沙门氏菌有关。16次暴发共包括487例病例,年龄从0岁到98岁不等(中位数:24岁);据报告有79人住院,2人死亡。在疫情调查过程中,14种冷冻生面包屑鸡肉产品被召回,其中一种被自愿从市场上撤回。在之前对这些产品的标签变更和发布公众信息被证明对减少疾病无效之后,2019年发布了新的行业要求,要求在生产/加工层面实施措施,将冷冻生面包屑鸡肉产品中的沙门氏菌减少到可检测的水平以下。自实施以来,加拿大没有发现与冷冻面包屑鸡有关的沙门氏菌疫情,这证明了这些风险缓解措施的有效性。
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引用次数: 0
From the field: a cryptosporidiosis outbreak among veterinary students associated with activities during the lambing period in Norway during 2024. 来自现场:与挪威2024年产羔期间的活动有关的兽医学生隐孢子虫病暴发。
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2024-12-27 DOI: 10.1017/S0950268824001717
Lise B N Hovd, Alejandro Jiménez-Meléndez, Mathilde S Varegg, Ian D Woolsey, Ingrid Olstad, Sigurd J Mathisen, Olav Reksen, Lucy J Robertson

A recent outbreak of cryptosporidiosis (Cryptosporidium parvum, subtype IIdA23G1) among veterinary students associated with extracurricular activities concerned with lambs is described from Norway. Although cryptosporidiosis outbreaks among veterinary students have been frequently reported, this is among the first from lamb contact. Cryptosporidium oocysts were detected in samples from two students and three lambs. A questionnaire distributed immediately after the outbreak was recognized, identified an assumed attack rate of 50% based on exposure and illness among exposed students (28 of 56), despite most reporting good or very good hygiene measures. Laboratory diagnostics confirmed infection in two of these. The illness lasted over a week in most students (up to 15 days), but contact with health services was negligible. In addition to implementing measures to reduce the likelihood of further such outbreaks among veterinary students, it is recommended that future outbreaks of diarrhoea among ruminants on the farm should be investigated for aetiological agents.

挪威报道了最近在与羔羊有关的课外活动中兽医学生中爆发的隐孢子虫病(小隐孢子虫,IIdA23G1亚型)。虽然经常报道兽医学生中隐孢子虫病的暴发,但这是首次由羔羊接触引起的。在2名学生和3只羔羊的样本中检测到隐孢子虫卵囊。在发现疫情后立即分发的一份调查问卷确定,尽管大多数学生报告采取了良好或非常良好的卫生措施,但根据接触情况和接触学生的疾病情况(56人中有28人),假设的发病率为50%。实验室诊断证实其中两人感染。大多数学生的病情持续了一个多星期(最多15天),但与卫生服务机构的联系微不足道。除了采取措施减少在兽医学生中进一步爆发此类疫情的可能性外,还建议对未来在农场反刍动物中爆发的腹泻进行病原学调查。
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引用次数: 0
The rising cost of infective endocarditis in West Virginia. 西维吉尼亚州感染性心内膜炎费用的上升。
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2024-12-26 DOI: 10.1017/S0950268824001869
Ruchi Bhandari, Noor Abdulhay, R Constance Wiener, Dalton Smith, Melanie Fisher

The financial burden of hospitalization from life-threatening infectious diseases on the U.S. healthcare system is substantial and continues to increase. The purpose of this study was to identify key predictors of high hospital charges for infective endocarditis at a major university-affiliated cardiac care centre in West Virginia.A retrospective electronic medical records' review was undertaken of all adult patients admitted for endocarditis between 2014-2018. Multiple linear regression analysis assessed the total charges billed to the patient account for their endocarditis hospitalization in the medical record.Hospital charges have increased 12-fold during 2014-2018. Among the 486 patients, the median hospital charge was $198 678. About 47% of the patients underwent surgery incurring 70% of the total charges. Patients with hospital stays of ≥50 days accounted for a third of all charges. The multiple linear regression model accounted for 85% of the linear variance in the hospital charges. Median charges increased by 30.87% for patients with ≥9 consultations, 60.32% for those who died in the hospital, and 81.85% for those who underwent surgical intervention.The study findings showed that complex care requiring multiple consultations, surgical interventions, and longer hospital stays were significantly associated with higher hospital charges for endocarditis treatment.

危及生命的传染病给美国医疗保健系统带来的住院治疗的经济负担是巨大的,而且还在继续增加。本研究的目的是确定西弗吉尼亚州一所主要大学附属心脏护理中心感染性心内膜炎高医院收费的关键预测因素。对2014-2018年间因心内膜炎入院的所有成年患者进行了回顾性电子病历审查。多元线性回归分析评估了患者在医疗记录中因心内膜炎住院的总费用。2014-2018年期间,医院收费增长了12倍。在这486名病人中,医院收费中位数为198678元。约47%的患者接受了手术,费用占总费用的70%。住院≥50天的患者占所有收费的三分之一。多元线性回归模型可解释85%的医院收费线性方差。就诊次数≥9次的患者中位收费增加30.87%,在医院死亡的患者中位收费增加60.32%,接受手术干预的患者中位收费增加81.85%。研究结果表明,复杂的护理需要多次咨询,手术干预和较长的住院时间与心内膜炎治疗的医院费用较高显着相关。
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引用次数: 0
Case-control association study between polygenic risk score and COVID-19 severity in a Russian population using low-pass genome sequencing. 俄罗斯人群多基因风险评分与COVID-19严重程度的低通基因组测序病例对照相关性研究
IF 2.5 4区 医学 Q3 INFECTIOUS DISEASES Pub Date : 2024-12-26 DOI: 10.1017/S0950268824001778
Arina Nostaeva, Valentin Shimansky, Svetlana Apalko, Ivan Kuznetsov, Natalya Sushentseva, Oleg Popov, Anna Asinovskaya, Sergei Mosenko, Lennart Karssen, Andrey Sarana, Yurii Aulchenko, Sergey Shcherbak

The course of COVID-19 is highly variable, with genetics playing a significant role. Through large-scale genetic association studies, a link between single nucleotide polymorphisms and disease susceptibility and severity was established. However, individual single nucleotide polymorphisms identified thus far have shown modest effects, indicating a polygenic nature of this trait, and individually have limited predictive performance. To address this limitation, we investigated the performance of a polygenic risk score model in the context of COVID-19 severity in a Russian population. A genome-wide polygenic risk score model including information from over a million common single nucleotide polymorphisms was developed using summary statistics from the COVID-19 Host Genetics Initiative consortium. Low-coverage sequencing (5x) was performed for ~1000 participants, and polygenic risk score values were calculated for each individual. A multivariate logistic regression model was used to analyse the association between polygenic risk score and COVID-19 outcomes. We found that individuals in the top 10% of the polygenic risk score distribution had a markedly elevated risk of severe COVID-19, with adjusted odds ratio of 2.9 (95% confidence interval: 1.8-4.6, p-value = 4e-06), and more than four times higher risk of mortality from COVID-19 (adjusted odds ratio = 4.3, p-value = 2e-05). This study highlights the potential of polygenic risk score as a valuable tool for identifying individuals at increased risk of severe COVID-19 based on their genetic profile.

COVID-19的病程变化很大,遗传因素起着重要作用。通过大规模的遗传关联研究,建立了单核苷酸多态性与疾病易感性和严重程度之间的联系。然而,迄今为止发现的单个单核苷酸多态性显示出适度的影响,表明该性状具有多基因性质,并且单独具有有限的预测性能。为了解决这一局限性,我们在俄罗斯人群中调查了多基因风险评分模型在COVID-19严重程度背景下的表现。利用COVID-19宿主遗传学倡议联盟的汇总统计数据,开发了一个全基因组多基因风险评分模型,其中包括来自100多万个常见单核苷酸多态性的信息。对约1000名参与者进行低覆盖率测序(5x),并计算每个个体的多基因风险评分值。采用多因素logistic回归模型分析多基因风险评分与COVID-19结局之间的关系。我们发现,多基因风险评分分布前10%的个体患严重COVID-19的风险显著升高,校正优势比为2.9(95%置信区间:1.8-4.6,p值= 4e-06),且COVID-19死亡风险高出4倍以上(校正优势比= 4.3,p值= 2e-05)。这项研究强调了多基因风险评分作为一种有价值的工具的潜力,可以根据遗传特征识别严重COVID-19风险增加的个体。
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Epidemiology and Infection
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