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Zhonghua er ke za zhi = Chinese journal of pediatrics最新文献

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[Application of cardiopulmonary exercise test in cardiovascular disease in children]. 心肺运动试验在儿童心血管疾病中的应用
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20230118-00043
S N Sun, H Tian
心肺运动试验(CPET)是一种客观、定量的无创性检查方法,可全面综合评价人体负荷运动时心肺的储备功能和运动耐力,并在疾病诊断、疗效评估及康复指导等方面具有重要价值。近年来儿童CPET应用逐步普及,本文就儿童CPET正常参考值的建立以及CPET在儿童先天性心脏病、心肌病、肺动脉高压、川崎病和心律失常中的应用现状进行综述。.
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引用次数: 0
[Clinical features and antimicrobial resistance of invasive non-typhoid Salmonella infection in children at Xiamen]. 厦门市儿童侵袭性非伤寒沙门氏菌感染临床特点及耐药性分析
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20230227-00135
C H Wang, M L Huang, Z Q Zhuo, Z X Wang, L Chen, Y Q Song, H Yu

Objective: To investigate the clinical characteristics, serogroups and antimicrobial resistance of invasive non-typhoid Salmonella infection in children at Xiamen. Methods: Retrospective cohort study. The clinical manifestations, treatment, prognosis, serogroups and antimicrobial resistance of 29 hospitalized children with invasive non-typhoid Salmonella infection confirmed by blood, cerebrospinal fluid, bone marrow and other sterile body fluids or deep pus culture at the Department of Infectious Diseases, the Department of Orthopedics and the Department of General Surgery in Xiamen Children's Hospital from January 2016 to December 2021 were analyzed. According to the clinical diagnosis criteria, the patients were divided into sepsis group and non-sepsis group (bacteremia and local suppurative infection). The inflammatory markers, serogroups distribution and drug resistance were compared between the two groups. Comparison between groups using Mann-Whitney U test and χ2 test. Results: Among the 29 cases, there were 17 males and 12 females, with an onset age of 14 (9, 25) months, and 10 cases (34%) of patients were younger than 1 year old, 15 cases (52%) under 1 to 3 years old, and 4 cases (14%) greater than or equal 3 years old. The onset time of 25 cases (86%) was from April to September. The diseases included 19 cases (66%) septicemia (2 of which were combined with suppurative meningitis), 10 cases (34%) non-sepsis group, including 7 cases bacteremia and 3 cases local suppurative infection (2 cases of osteomyelitis, 1 case of appendicitis with peritonitis). The clinical manifestations were fever in 29 cases (100%), diarrhea and abdominal pain in 18 cases (62%), cough and runny nose in 10 cases (34%). Eighteen cases (62%) were cured and 11 cases (38%) were improved by effective antibiotics treatment. C-reactive protein in sepsis group was significantly higher than that in non-sepsis group (25.2 (16.1, 56.4) vs. 3.4 (0.5, 7.5) mg/L, Z=-3.81, P<0.001).The serogroups of C, B and E were the most prevalent among non-typhoid Salmonella isolates, accounting for 10 cases (34%), 9 cases (31%) and 7 cases (24%) respectively. Antibacterial drug sensitivity test showed that the sensitivity rates of imipenem, ertapenem and piperaciratazobactam were all 100% (31/31), those of ceftazidime, ceftriaxone, and cefepime were 94% (29/31), 94% (29/31) and 97% (30/31) respectively. The drug resistance rates of ampicillin, ampicillin-sulbactam and trimethoprim-sulfamethoxazole were 51% (16/31), 48% (15/31) and 48% (15/31) respectively, those of cefazolin, cefotetan, tobramycin, gentamicin and amikacinwere all 100% (31/31). There were no significant differences in the drug resistance rates of ceftazidime, ceftriaxone, aztreonam, ampicillin-sulbactam, ampicillin, trimethoprim-sulfamethoxazole and ciprofloxacin between the sepsis group and the non-sepsis group (χ2

目的:了解厦门市儿童侵袭性非伤寒沙门菌感染的临床特点、血清分型及耐药性。方法:回顾性队列研究。对2016年1月至2021年12月在厦门市儿童医院感染性疾病科、骨科和普外科经血液、脑脊液、骨髓等无菌体液或深脓培养确诊的29例侵袭性非伤寒沙门氏菌感染住院患儿的临床表现、治疗、预后、血清组及耐药性进行分析。根据临床诊断标准将患者分为败血症组和非败血症组(菌血症和局部化脓性感染)。比较两组患者炎症指标、血清组分布及耐药情况。组间比较采用Mann-Whitney U检验和χ2检验。结果:29例患者中,男性17例,女性12例,发病年龄14(9,25)个月,1岁以下10例(34%),1 ~ 3岁以下15例(52%),大于等于3岁4例(14%)。发病时间为4 ~ 9月25例(86%)。其中败血症19例(66%)(其中2例合并化脓性脑膜炎),非败血症组10例(34%),其中菌血症7例,局部化脓性感染3例(骨髓炎2例,阑尾炎合并腹膜炎1例)。临床表现为发热29例(100%),腹泻、腹痛18例(62%),咳嗽、流鼻涕10例(34%)。经有效抗生素治疗,治愈18例(62%),好转11例(38%)。脓毒症组c反应蛋白含量显著高于非脓毒症组(25.2 (16.1,56.4)vs. 3.4 (0.5, 7.5) mg/L, Z=-3.81,分别占10例(34%)、9例(31%)和7例(24%)。抗菌药物敏感性试验结果显示,亚胺培南、厄他培南、哌拉西唑巴坦的敏感性均为100%(31/31),头孢他啶、头孢曲松、头孢吡肟的敏感性分别为94%(29/31)、94%(29/31)、97%(30/31)。氨苄西林、氨苄西林-舒巴坦和甲氧苄啶-磺胺甲恶唑的耐药率分别为51%(16/31)、48%(15/31)和48%(15/31),头孢唑林、头孢替坦、妥布霉素、庆大霉素和阿米卡星的耐药率均为100%(31/31)。脓毒症组与非脓毒症组头孢他啶、头孢曲松、氨苄西林-舒巴坦、氨苄西林、甲氧苄啶-磺胺甲恶唑、环丙沙星的耐药率比较,差异均无统计学意义(χ2=0.31、0.31、0.00、0.02、0.02、0.02、0.26,P均>0.05)。结论:厦门市儿童侵袭性非伤寒沙门氏菌感染主要发生在3岁以下婴幼儿。主要临床表现为发热、腹痛、腹泻。c反应蛋白可作为脓毒症的实验室指标。建议使用第三代头孢菌素作为首选治疗药物。
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引用次数: 0
[A case of Triadin knockout syndrome caused by TRDN gene variation]. 【TRDN基因变异致Triadin敲除综合征1例】。
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20221221-01060
Q Q Sun, F J Wang, H X Sun, Z H Xie
患儿 女,2岁6月龄,因“呼吸、心搏骤停后5 h”转入郑州大学附属儿童医院,主要临床表现为心搏骤停、晕厥、无自主呼吸、抽搐。心电图可见单发、成对室性早搏以及多形性室性心动过速,予持续机械通气、抗感染、脑保护、美托洛尔等治疗,遗留有言语和语言障碍、肌无力。基因检测结果提示患儿TRDN基因存在c.326delT(p.Leu109CysfsTer25)纯合变异,确诊为Triadin敲除综合征,后继续予美托洛尔治疗,随访7个月未发生心脏事件。.
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引用次数: 0
[Syndromic panel-based molecular testing for diagnosis and management of infectious diseases in pediatric patients]. [基于综合征组的分子检测在儿科患者传染病诊断和管理中的应用]。
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20230605-00376
X T Zheng, Y Qian
急性感染性疾病仍然是儿科最常见的疾病。准确和及时地作出病原学诊断对于帮助这类疾病的有效治疗至关重要。基于症候群检测的多重核酸分子检测技术是指使用单一实验同时检测多种可造成相似症状的病原的检测方法。因其敏感性、特异性高并且快速高效在近几年被迅速广泛用于呼吸道、消化道、血流、中枢神经系统及关节感染的实验室病原快速诊断。.
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引用次数: 0
[Progress in the treatment of tuberous sclerosis complex]. 结节性硬化症的治疗进展。
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20230404-00238
L P Zou
结节性硬化症是一种常染色体显性遗传的神经皮肤综合征,可累及全身系统,特别是脑、皮肤、神经系统、肾等多器官受累。随着对其致病机制的深入研究,针对病因的靶向药物哺乳动物雷帕霉素靶蛋白抑制剂逐步应用于临床,国内外临床研究证明可有效改善其临床症状。.
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引用次数: 0
[Rationalize the choose of pathogen detection methods to conduct precise anti-infection therapy]. 【合理选择病原体检测方法,进行精准抗感染治疗】。
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20230616-00405
S N Shu
近年来病原学检测技术快速发展,临床不恰当的使用和解读可导致误诊、误治。合理开展病原学检测要求了解检测方法的特点,结合病程、病情和感染部位,病程早期对感染局部样本进行核酸或抗原检测,病程7 d后可采用血清特异性抗体检测;疑难危重患儿可恰当使用二代测序等技术;可根据感染部位选择不同组合形式的多病原联合检测。规范采集技术,保证送检样本质量并科学解读检测报告,方可实现精准抗感染治疗。.
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引用次数: 0
[Pathogeny and treatment of systemic lupus erythematosus complicated with thrombotic microangiopathy]. 系统性红斑狼疮并发血栓性微血管病的病因与治疗
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20221231-01078
X J Li, Y Q Wei, C L Gao, Z K Xia
血栓性微血管病(TMA)是儿童系统性红斑狼疮(SLE)的罕见并发症,临床表现多样,预后不良。SLE相关TMA病因复杂,包括补体介导性TMA、血栓性血小板减少性紫癜、抗磷脂抗体综合征、药物介导性TMA、感染等,不同病因的治疗原则也有所差异。本文就儿童SLE合并TMA的病因和发病机制、临床表现、治疗等方面进行综述,以期为临床诊断和治疗提供帮助。.
{"title":"[Pathogeny and treatment of systemic lupus erythematosus complicated with thrombotic microangiopathy].","authors":"X J Li,&nbsp;Y Q Wei,&nbsp;C L Gao,&nbsp;Z K Xia","doi":"10.3760/cma.j.cn112140-20221231-01078","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221231-01078","url":null,"abstract":"血栓性微血管病(TMA)是儿童系统性红斑狼疮(SLE)的罕见并发症,临床表现多样,预后不良。SLE相关TMA病因复杂,包括补体介导性TMA、血栓性血小板减少性紫癜、抗磷脂抗体综合征、药物介导性TMA、感染等,不同病因的治疗原则也有所差异。本文就儿童SLE合并TMA的病因和发病机制、临床表现、治疗等方面进行综述,以期为临床诊断和治疗提供帮助。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9925459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[A case of intrarenal artery stenosis treated by transcathether segmental renal artery embolization]. [经肝段性肾动脉栓塞治疗肾内动脉狭窄1例]。
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20221214-01048
Y Xiong, G Shen, L Shi, Y Lin, H W Zhang, S L Li, Q Di, C H Chen, J J Cao
患儿 男,9岁,因“血压升高13个月”就诊于首都儿科研究所,病初最高血压184/122 mmHg(1 mmHg=0.133 kPa),口服3种降压药物,血压仍在2级以上,腹部增强CT发现右肾中极楔形灌注减低区,肾动脉造影见右肾上前段的一支叶间动脉狭窄,行肾分支动脉栓塞术,用微球及弹簧圈栓塞成功,无并发症发生。术后6 d患儿血肾素浓度恢复正常,心脏超声左心房内径恢复正常,左心室质量指数降至正常,肾功能正常。术后6个月随访,降压药物调整为2种,血压控制在2级以下,分肾功能正常。.
{"title":"[A case of intrarenal artery stenosis treated by transcathether segmental renal artery embolization].","authors":"Y Xiong,&nbsp;G Shen,&nbsp;L Shi,&nbsp;Y Lin,&nbsp;H W Zhang,&nbsp;S L Li,&nbsp;Q Di,&nbsp;C H Chen,&nbsp;J J Cao","doi":"10.3760/cma.j.cn112140-20221214-01048","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221214-01048","url":null,"abstract":"患儿 男,9岁,因“血压升高13个月”就诊于首都儿科研究所,病初最高血压184/122 mmHg(1 mmHg=0.133 kPa),口服3种降压药物,血压仍在2级以上,腹部增强CT发现右肾中极楔形灌注减低区,肾动脉造影见右肾上前段的一支叶间动脉狭窄,行肾分支动脉栓塞术,用微球及弹簧圈栓塞成功,无并发症发生。术后6 d患儿血肾素浓度恢复正常,心脏超声左心房内径恢复正常,左心室质量指数降至正常,肾功能正常。术后6个月随访,降压药物调整为2种,血压控制在2级以下,分肾功能正常。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9916573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[A case of haploinsufficiency of A20 caused by new variation of TNFAIP3 gene]. 【TNFAIP3基因新变异致A20单倍性不足1例】。
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20230202-00072
F M Xue, C Liu, Z Lei, C An
患儿 女,5岁,因“间断发热、腹痛、腹泻2个月余”就诊于郑州大学附属儿童医院,结肠镜检查发现全结肠出现多处不规则深溃疡,肛周可见脓肿。基因检测显示患儿存在TNFAIP3基因杂合变异(NM_001270508:c.866delA),而其父母均为野生型。患儿确诊A20单倍体不足,予营养支持、沙利度胺口服治疗,后因严重胃肠道反应停用沙利度胺,给予生物制剂抗肿瘤坏死因子-α制剂(英夫利昔单抗)治疗半年余,病情得到有效控制。.
{"title":"[A case of haploinsufficiency of A20 caused by new variation of TNFAIP3 gene].","authors":"F M Xue,&nbsp;C Liu,&nbsp;Z Lei,&nbsp;C An","doi":"10.3760/cma.j.cn112140-20230202-00072","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230202-00072","url":null,"abstract":"患儿 女,5岁,因“间断发热、腹痛、腹泻2个月余”就诊于郑州大学附属儿童医院,结肠镜检查发现全结肠出现多处不规则深溃疡,肛周可见脓肿。基因检测显示患儿存在TNFAIP3基因杂合变异(NM_001270508:c.866delA),而其父母均为野生型。患儿确诊A20单倍体不足,予营养支持、沙利度胺口服治疗,后因严重胃肠道反应停用沙利度胺,给予生物制剂抗肿瘤坏死因子-α制剂(英夫利昔单抗)治疗半年余,病情得到有效控制。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9922401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Analysis of respiratory syncytial virus nonstructural protein 1 amino acid variation and clinical characteristics]. 呼吸道合胞病毒非结构蛋白1氨基酸变异及临床特征分析
Pub Date : 2023-08-02 DOI: 10.3760/cma.j.cn112140-20230528-00361
H Zhai, L Q Gao, L Ren, J Xie, E M Liu

Objective: To investigate the relationship between amino acid variations of respiratory syncytial virus (RSV) nonstructural protein (NS) 1 and the clinical characteristics. Method: A retrospective case review was conducted. From December 2018 to January 2020, a total of 81 cases of hospitalized children who were tested only positive for RSV by RT-PCR or PCR at the Department of Respiratory Medicine, Children's Hospital of Chongqing Medical University were included in the study. The NS1 genes of RSV subtype A and subtype B were amplified by PCR and sequenced. The amino acid sequences were analyzed. The Chi-square test and Mann-Whitney rank sum test were used to compare the clinical characteristics and type Ⅰ interferon levels of children with or without NS1 variation in the variation and non-variation groups. Results: Among 81 cases, there were 58 males and 23 females. There were 11 cases in the variation group, the age of onset was 2.0 (1.0, 11.0) months, included 4 cases of subtype A (variant sites were: 2 cases for Lys33Gln, one case for Gly2Asp, Pro67Ser, Leu137Phe, respectively) and 7 cases of subtype B (variant sites were: two cases for Val121Ile, one case for Tyr30Cys, Val65Met, Asn85Ser, Ser118Asn, Asp124Asn, respectively). These variant sites all appeared at a very low frequency 0.08 (0.04, 0.29) % in the NCBI PROTEIN database. There were 70 cases in non-variation group, the onset age was 3.5 (1.0, 7.0) months. The proportion of dyspnea in the variation group was higher than that in the non-variation group (10/11 vs. 47% (33/70), χ2=7.31, P<0.01). Conclusions: There are some variant sites in nonstructural protein NS1 of RSV. Children may be prone to have dyspnea with NS1 variations.

目的:探讨呼吸道合胞病毒(RSV)非结构蛋白(NS) 1氨基酸变异与临床特征的关系。方法:回顾性分析病例。2018年12月至2020年1月,重庆医科大学儿童医院呼吸内科RT-PCR或PCR检测为RSV阳性的住院儿童共81例纳入研究。采用PCR扩增RSV A、B亚型NS1基因并测序。分析了氨基酸序列。采用卡方检验和Mann-Whitney秩和检验比较变异组和非变异组中有无NS1变异儿童的临床特征和Ⅰ型干扰素水平。结果:81例患者中,男性58例,女性23例。变异组11例,发病年龄分别为2.0(1.0、11.0)个月,其中A亚型4例(变异位点分别为Lys33Gln 2例,Gly2Asp、Pro67Ser、Leu137Phe 1例),B亚型7例(变异位点分别为Val121Ile 2例,Tyr30Cys、Val65Met、Asn85Ser、Ser118Asn、Asp124Asn 1例)。这些变异位点在NCBI蛋白数据库中出现的频率都很低,为0.08(0.04,0.29)%。无变异组70例,发病年龄为3.5(1.0,7.0)个月。变异组呼吸困难发生率高于非变异组(10/11比47% (33/70),χ2=7.31, p < 0.05。结论:RSV非结构蛋白NS1存在一定的变异位点。儿童可能容易出现NS1变异的呼吸困难。
{"title":"[Analysis of respiratory syncytial virus nonstructural protein 1 amino acid variation and clinical characteristics].","authors":"H Zhai,&nbsp;L Q Gao,&nbsp;L Ren,&nbsp;J Xie,&nbsp;E M Liu","doi":"10.3760/cma.j.cn112140-20230528-00361","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230528-00361","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the relationship between amino acid variations of respiratory syncytial virus (RSV) nonstructural protein (NS) 1 and the clinical characteristics. <b>Method:</b> A retrospective case review was conducted. From December 2018 to January 2020, a total of 81 cases of hospitalized children who were tested only positive for RSV by RT-PCR or PCR at the Department of Respiratory Medicine, Children's Hospital of Chongqing Medical University were included in the study. The NS1 genes of RSV subtype A and subtype B were amplified by PCR and sequenced. The amino acid sequences were analyzed. The Chi-square test and Mann-Whitney rank sum test were used to compare the clinical characteristics and type Ⅰ interferon levels of children with or without NS1 variation in the variation and non-variation groups. <b>Results:</b> Among 81 cases, there were 58 males and 23 females. There were 11 cases in the variation group, the age of onset was 2.0 (1.0, 11.0) months, included 4 cases of subtype A (variant sites were: 2 cases for Lys33Gln, one case for Gly2Asp, Pro67Ser, Leu137Phe, respectively) and 7 cases of subtype B (variant sites were: two cases for Val121Ile, one case for Tyr30Cys, Val65Met, Asn85Ser, Ser118Asn, Asp124Asn, respectively). These variant sites all appeared at a very low frequency 0.08 (0.04, 0.29) % in the NCBI PROTEIN database. There were 70 cases in non-variation group, the onset age was 3.5 (1.0, 7.0) months. The proportion of dyspnea in the variation group was higher than that in the non-variation group (10/11 <i>vs.</i> 47% (33/70), <i>χ</i><sup>2</sup>=7.31, <i>P</i><0.01). <b>Conclusions:</b> There are some variant sites in nonstructural protein NS1 of RSV. Children may be prone to have dyspnea with NS1 variations.</p>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9925458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Zhonghua er ke za zhi = Chinese journal of pediatrics
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