Early-onset

早期发作
  • 文章类型: Journal Article
    妊娠期肝内胆汁淤积症(ICP)和妊娠期糖尿病(GDM)是两种常见的妊娠并发症,对健康构成巨大挑战。这些情况之间的相互作用被认为会显著影响妊娠结局。然而这种关系的性质仍然难以捉摸。本研究旨在阐明ICP和GDM之间的联系。
    这项回顾性队列研究包括2015年1月至2023年12月在上海公共卫生临床中心分娩的742例单胎妊娠。我们比较了多个ICP亚组与健康妊娠对照组之间的GDM发生率和妊娠结局。使用多元回归模型来测量ICP与GDM发展倾向之间的独立关联。以及评估ICP和GDM之间潜在双向效应的影响。
    结果表明,与对照组和其他ICP亚组相比,早发性ICP(在妊娠24周前诊断)组的GDM发生率最高。早发性ICP是GDM发展的独立危险因素,包括年龄在内的其他风险因素,流产史,糖尿病家族史,和ALT水平升高。亚组交互作用分析未揭示早期ICP对不同亚组GDM发展影响的异质性。进一步分析表明,GDM本身并不增加迟发性ICP的风险。此外,在比较有或没有ICP的GDM患者的妊娠结局时,GDM和ICP患者的早产率明显较高,剖宫产,与单独GDM患者相比,小于胎龄(SGA)。此外,早发型ICP患者TBA水平升高(首次诊断)与GDM风险呈非线性相关.
    我们的研究表明,早发性ICP与GDM风险增加显著相关。需要进一步的研究来探索这种关联背后的机制,并制定早期识别和干预以减轻GDM风险的策略。
    UNASSIGNED: Intrahepatic cholestasis of pregnancy (ICP) and gestational diabetes mellitus (GDM) are two common pregnancy complications that pose considerable health challenges. The interplay between these conditions is believed to significantly influence pregnancy outcomes, yet the nature of this relationship remains elusive. This study was designed to elucidate the connection between ICP and GDM.
    UNASSIGNED: This retrospective cohort study included 742 singleton pregnancies delivered at the Shanghai Public Health Clinical Center from January 2015 to December 2023. We compared the incidence of GDM and pregnancy outcomes between multiple ICP subgroups and a control group of healthy pregnancies. A multivariate regression model was used to measure the independent association between ICP and propensity for GDM development, as well as to assess the impact of potential bidirectional effects between ICP and GDM.
    UNASSIGNED: The results indicate that the incidence of GDM is highest in the early-onset ICP (diagnosed before the 24th week of gestation) group compared to the control group and other ICP subgroups. Early-onset ICP is an independent risk factor for the development of GDM, with other risk factors including age, history of abortion, family history of diabetes, and elevated ALT levels. Subgroup interaction analysis did not reveal heterogeneity in the influence of early-onset ICP on the development of GDM across different subgroups. Further analysis showed that GDM itself does not increase the risk of late-onset ICP. Additionally, when comparing pregnancy outcomes between GDM patients with or without ICP, those with both GDM and ICP had significantly higher rates of preterm birth, cesarean section, and small for gestational age (SGA) compared to patients with GDM alone. Furthermore, elevated TBA levels (first diagnosed) of early-onset ICP patients were associated with an increased risk of GDM in a nonlinear fashion.
    UNASSIGNED: Our study indicated that early-onset ICP is significantly linked to an increased risk of GDM. Further research is warranted to explore the mechanisms behind this association and to develop strategies for early identification and intervention to mitigate GDM risk.
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  • 文章类型: Journal Article
    背景:精神分裂症被概念化为一种脑连接体障碍,可以在儿童晚期和青春期出现。然而,潜在的神经发育基础仍不清楚.最近对在关键大脑发育时期出现症状的儿童和青少年患者的兴趣越来越大。受到先进的方法论理论和大型患者队列的启发,中国研究人员在了解早发性精神分裂症(EOS)中改变的大脑连接体发育方面做出了重大的原创性贡献。
    方法:我们对PubMed和WebofScience进行了一项关于精神分裂症和神经发育中脑连接体的研究。在这次选择性审查中,我们首先讨论大脑结构和功能发育的最新理论。随后,我们综合了有关EOS中脑结构和功能异常机制的中国研究结果。最后,我们强调了这一领域的几个关键挑战和问题。
    结果:典型的神经发育遵循以灰质体积修剪为特征的轨迹,增强结构和功能连通性,提高结构连接体效率,以及儿童晚期和青春期功能连接体中的分化模块。相反,EOS随着灰质体积的过度下降而偏离,皮质变薄,降低了结构大脑网络中的信息处理效率,和功能大脑网络的成熟失调。此外,在早期和成年发病患者中发现了默认模式区域的常见功能连接体破坏。
    结论:中国对EOS脑连接组的研究为理解病理机制提供了重要证据。进一步研究,利用基于大样本多中心数据集的标准化分析,有可能为早期干预和疾病治疗提供客观指标。
    BACKGROUND: Schizophrenia is conceptualized as a brain connectome disorder that can emerge as early as late childhood and adolescence. However, the underlying neurodevelopmental basis remains unclear. Recent interest has grown in children and adolescent patients who experience symptom onset during critical brain development periods. Inspired by advanced methodological theories and large patient cohorts, Chinese researchers have made significant original contributions to understanding altered brain connectome development in early-onset schizophrenia (EOS).
    METHODS: We conducted a search of PubMed and Web of Science for studies on brain connectomes in schizophrenia and neurodevelopment. In this selective review, we first address the latest theories of brain structural and functional development. Subsequently, we synthesize Chinese findings regarding mechanisms of brain structural and functional abnormalities in EOS. Finally, we highlight several pivotal challenges and issues in this field.
    RESULTS: Typical neurodevelopment follows a trajectory characterized by gray matter volume pruning, enhanced structural and functional connectivity, improved structural connectome efficiency, and differentiated modules in the functional connectome during late childhood and adolescence. Conversely, EOS deviates with excessive gray matter volume decline, cortical thinning, reduced information processing efficiency in the structural brain network, and dysregulated maturation of the functional brain network. Additionally, common functional connectome disruptions of default mode regions were found in early- and adult-onset patients.
    CONCLUSIONS: Chinese research on brain connectomes of EOS provides crucial evidence for understanding pathological mechanisms. Further studies, utilizing standardized analyses based on large-sample multicenter datasets, have the potential to offer objective markers for early intervention and disease treatment.
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  • 文章类型: Journal Article
    研究团体认知行为疗法对早发性精神分裂症患者的一对一治疗的临床效果。
    完全,选取2020年9月至2023年9月我院精神科收治的早发性精神分裂症患者133例,根据是否进行团体行为认知疗法分为对照组和观察组。收集患者的一般人口统计学数据,采用倾向评分匹配法平衡2组基线资料。阳性和阴性综合征量表,个人和社会绩效量表,疾病严重程度(SI),匹配后比较2组疗效指数(EI)。
    匹配后,72名患者被纳入我们的研究。与对照组相比,观察组PANSS评分均下降,包括干预后(P>0.05)。两组在治疗前后均显示下降。观察组治疗后阳性和阴性证候量表缩小率及总有效率均提高(P<.001)。临床总体印象(CGI)的个人和社会绩效量表得分高于对照组。在CGI评分中,观察组SI评分较低,差异有统计学意义(P=0.002),而EI评分较高(P<.001)。
    团体认知行为疗法有利于精神症状和疾病严重程度的改善,社会功能,和疗效,这是提倡和推广的。
    UNASSIGNED: To study the clinical effect of group cognitive behavioral therapy to one-on-one treatment on patients with early-onset schizophrenia.
    UNASSIGNED: Totally,133 patients with early-onset schizophrenia admitted to the Department of Psychiatry of our hospital from September 2020 to September 2023 were selected and divided into a control group and an observation group according to whether group behavioral cognitive therapy was performed. The general demographic data of the patients were collected, and the propensity score matching method was used to balance the baseline data of the 2 groups. The Positive and negative syndrome scale, Personal and Social Performance Scale, severity of illness (SI), and efficacy index (EI) were compared between the 2 groups after matching.
    UNASSIGNED: After matching, 72 patients were included in our study. Compared to the control group, observation group PANSS score were decreased including after intervention (P > .05). Both groups showed a decrease between before and after treatments. Positive and Negative Syndrome Scale reduction rate after treatment and total response rate were increased in the observation group (P <.001). Personal and Social Performance Scale of the Clinical Global Impression (CGI) scores were higher than those of the control group. In the CGI scores, there is a significant difference that SI scores were lower in the observation group (P = .002), while EI scores were higher (P <.001).
    UNASSIGNED: Group cognitive behavioral therapy is beneficial to the improvement of mental symptoms and disease severity, social function, and curative effect, which is advocated and popularized.
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  • 文章类型: Journal Article
    本研究旨在探讨早发型重度子痫前期(ESPE)与晚发型重度子痫前期(LSPE)的不同特征,以改善妊娠结局。我们在2016年1月至2021年12月之间进行了一项回顾性队列研究。符合资格的重度先兆子痫住院孕妇被分配到早发型或晚发型组。根据重度子痫前期发病时的孕龄(<或≥34孕周,分别)。临床特点,实验室结果,产妇并发症,记录并比较两组的胎儿和新生儿结局。共包括1238名孕妇,早发型组525例,晚发型组713例。晚发型组的妊娠期糖尿病病例较多,而早发型组的血压较高,显示更多的蛋白尿,有更多的肝和肾损伤,表现出更严重的不良产妇,胎儿,和新生儿结局,更有可能被送进重症监护室,并且需要更长的住院时间(均P<0.05)。此外,早发型组的产前护理预约次数较少,且更常从初级或二级护理医院转院.逻辑回归分析显示,每周体重增加>100g是ESPE的危险因素,而较少的产前护理预约是女性胎儿孕妇ESPE的危险因素。此外,logistic回归分析显示,本次妊娠期间无胎儿和妊娠期糖尿病是LSPE的危险因素。总之,与LSPE女性相比,那些患有ESPE的人通常有更糟糕的母体,胎儿,和新生儿结局。对有高危因素的孕妇应提供更频繁的产前筛查和护理。
    This study aimed to explore the different characteristics between early-onset severe preeclampsia (ESPE) and late-onset severe preeclampsia (LSPE) to improve pregnancy outcomes. We performed a retrospective cohort study between January 2016 and December 2021. Eligible hospitalized pregnant women with severe preeclampsia were assigned into the early-onset or late-onset group, depending on the gestational age at the time of severe preeclampsia onset (< or ≥ 34 gestational weeks, respectively). The clinical characteristics, laboratory results, maternal complications, and fetal and neonatal outcomes were recorded and compared between the two groups. A total of 1,238 pregnant women were included, with 525 in the early-onset group and 713 in the late-onset group. The late-onset group had more cases of gestational diabetes, whereas the early-onset group had a higher blood pressure, showed more proteinuria, had more liver and renal damage, exhibited more serious adverse maternal, fetal, and neonatal outcomes, was more likely to be admitted to the intensive care unit, and required longer hospital stays (all P < 0.05). In addition, the early-onset group had fewer prenatal care appointments and was more often transferred from a primary or secondary care hospital. The logistic regression analysis showed that a weekly weight gain of > 100 g was a risk factor for ESPE and that fewer prenatal care appointments were a risk factor for ESPE in pregnant women with female fetuses. Moreover, logistic regression analysis indicated that nulliparity and gestational diabetes during the current pregnancy were risk factors for LSPE. In conclusion, compared with the women with LSPE, those with ESPE usually had worse maternal, fetal, and neonatal outcomes. More frequent prenatal screening and care should be provided for pregnant women with high-risk factors.
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  • 文章类型: Journal Article
    目的:本研究旨在评估中国早发性胃肠道(GI)癌症的负担。
    方法:使用来自全球疾病负担的数据进行了全面分析,受伤,和风险因素研究(GBD)2019年。
    方法:2020年和1990年至2019年的早发性胃肠道癌症数据分别从GLOBOCAN2020数据库和GBD2019中提取。使用Joinpoint回归程序计算平均年变化百分比(AAPC)以分析时间趋势。贝叶斯年龄周期队列(BAPC)模型用于预测2030年的未来趋势。
    结果:在中国,在2020年,早发性胃肠道癌的发生率为185,980例,死亡119,116例,其中肝癌的发生率和死亡率最高(新病例:71,662例;死亡:62,412例).在过去的30年中,中国的早发性胃肠道癌症的范围发生了变化。年龄标准化的发病率,死亡率,结直肠癌和胰腺癌的残疾调整寿命年呈现快速增加(AAPC>0,P≤0.001)。结直肠癌发病率增长最快(AAPC:3.06,P<0.001)。尽管肝脏减少,胃,和食道癌,近年来,这些趋势已经逆转或趋于平缓。发现高体重指数是早发性胃肠道癌症增长最快的危险因素(估计的年度变化百分比:2.75-4.19,P<0.05)。预测分析显示,在2020-2030年期间,几乎所有早发性胃肠道癌症的年龄标准化发病率都有增加的趋势。
    结论:中国早发性胃肠道肿瘤的转变模式强调了应对这一公共卫生挑战的紧迫性。
    OBJECTIVE: This study aimed to assess the burden of early-onset gastrointestinal (GI) cancers in China over three decades.
    METHODS: A comprehensive analysis was performed using data from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019.
    METHODS: Data on early-onset GI cancers in 2020 and from 1990 to 2019 were extracted from GLOBOCAN 2020 database and GBD 2019, respectively. The average annual percent change (AAPC) was calculated to analyze the temporal trends using the Joinpoint Regression Program. The Bayesian age-period-cohort (BAPC) model was used to predict future trends up to 2030.
    RESULTS: In China, there were 185,980 incident cases and 119,116 deaths of early-onset GI cancer in 2020, with the highest incidence and mortality observed in liver cancer (new cases: 71,662; deaths: 62,412). The spectrum of early-onset GI cancers in China has transitioned over the last 30 years. The age-standardized rates of incidence, mortality, and disability-adjusted life years for colorectal and pancreatic cancers exhibited rapid increases (AAPC >0, P ≤ 0.001). The fastest-growing incidence rate was found in colorectal cancer (AAPC: 3.06, P < 0.001). Despite the decreases in liver, gastric, and esophageal cancers, these trends have been reversed or flattened in recent years. High body mass index was found to be the fastest-growing risk factor for early-onset GI cancers (estimated annual percentage change: 2.75-4.19, P < 0.05). Projection analyses showed an increasing trend in age-standardized incidence rates for almost all early-onset GI cancers during 2020-2030.
    CONCLUSIONS: The transitioning pattern of early-onset GI cancers in China emphasizes the urgency of addressing this public health challenge.
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  • 文章类型: Journal Article
    已经观察到早发性结直肠癌(CRC)负担的上升趋势,但饮食风险导致的早发性CRC的分布和时间模式仍不清楚.
    本研究旨在估计全球饮食风险因素引起的早发性CRC的负担,区域性,在全国范围内,按年龄和性别,从1990年到2019年。
    饮食相关的早发性CRC负担的绝对数量和年龄特异性比率(ASR),以及可归因于饮食危险因素的总暴露值(SEV),摘自2019年全球疾病负担(GBD)研究。通过计算负担的绝对数量的百分比变化和负担的ASR的估计年度百分比变化(EAPC),分析了1990年至2019年负担的时间变化。计算年度变化率(ARC)以评估SEV的变化趋势。
    2019年,与饮食相关的早发性CRC在全球范围内导致30,096例(95%UI:23,148至36,091例)死亡病例和1,465,755例(95%UI:1,126,489至1,761例)DALYs,占总的早发性CRC的34.8%的死亡和34.4%的DALYs,分别。此外,低奶饮食(占2019年DALYs的16.5%[95%UI:11.1%至21.9%]),全谷物含量低(15.2%[95%UI:5.9至19.9%]),钙含量低(14.3%[95%UI:10.7至18.9%]),红肉含量高(5.3%[95%UI:1.7至9.5%]),加工肉类含量高(2.5%[95%UI:0.9至4.0%]),低纤维(2.3%[95%UI:0.9~4.2%])是早发性CRC可归因于饮食的危险因素.在1990年至2019年期间,归因于每种饮食风险因素的早发性CRC的特定年龄DALYs率总体上呈增长趋势,除了纤维摄入量低(EAPC=-0.57,95%CI:-0.76至-0.38)。此外,从1990年到2019年,男性的负担高于女性,而且由于大多数饮食风险因素的性别差异越来越大,这一差距可能会继续扩大.此外,由饮食风险引起的早发性CRC负担已经从具有高社会人口统计学指数(SDI)的地区转移到具有不受控制的饮食风险的高、中、中SDI五分位数.
    早发性CRC仍然是全球关注的问题,有效预防和改变饮食危险因素对减轻早发性CRC相关负担大有希望。男性饮食改善的优先地位对于CRC控制工作至关重要和紧迫。特别是对于那些生活在正在进行膳食模式转变的发展中国家。
    UNASSIGNED: Rising trends in early-onset colorectal cancer (CRC) burden have been observed, but the distribution and temporal patterns of early-onset CRC attributable to dietary risks remain unclear.
    UNASSIGNED: This study aimed to estimate the burden of early-onset CRC attributable to dietary risk factors globally, regionally, and nationally, by age and sex, from 1990 to 2019.
    UNASSIGNED: The absolute number and age-specific rates (ASR) of diet-related early-onset CRC burden, as well as summary exposure value (SEV) of attributable dietary risk factors, were extracted from the Global Burden of Disease (GBD) Study 2019. The temporal changes in the burden between 1990 and 2019 were analyzed by calculating the percentage change in the absolute number of burden and the estimated annual percentage change (EAPC) in ASR of burden. The annualized rates of change (ARC) were calculated to evaluate the variation trend of SEV.
    UNASSIGNED: In 2019, diet-related early-onset CRC caused 30,096 (95% UI: 23,148 to 36,091) death cases and 1,465,755 (95% UI: 1,126,489 to 1,761,661) DALYs worldwide, accounting for 34.8% deaths and 34.4% DALYs of overall early-onset CRC, respectively. Moreover, a diet low in milk (responsible for 16.5% [95% UI: 11.1 to 21.9%] of DALYs in 2019), low in whole grains (15.2% [95% UI: 5.9 to 19.9%]), low in calcium (14.3% [95% UI: 10.7 to 18.9%]), high in red meat (5.3% [95% UI: 1.7 to 9.5%]), high in processed meat (2.5% [95% UI: 0.9 to 4.0%]), and low in fiber (2.3% [95% UI: 0.9 to 4.2%]) were early-onset CRC attributable dietary risk factors. The age-specific DALYs rate of early-onset CRC attributable to each dietary risk factor generally showed an increasing trend globally between 1990 and 2019, except for low intake of fiber (EAPC = -0.57, 95% CI: -0.76 to -0.38). In addition, from 1990 to 2019, males have a higher burden than females and this gap may continue to widen due to the increasing difference between the sexes in most dietary risk factors. Furthermore, dietary risks-attributable early-onset CRC burden has shifted from regions with high socio-demographic index (SDI) to high-middle and middle SDI quintiles with uncontrolled dietary risks.
    UNASSIGNED: Early-onset CRC remains a concerning issue globally, and effective prevention and modification of dietary risk factors holds great promise to reduce early-onset CRC-related burden. Prioritizing diet improvement for males is critical and urgent for CRC control efforts, particularly for those living in developing countries with ongoing dietary pattern transition.
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  • 文章类型: Journal Article
    早发性(发病年龄<50岁)和晚发性(发病年龄<50岁)癌症的特征显着不同。识别两种类型癌症的新风险因素对于提高对癌症预防的认识和减轻其负担至关重要。本研究旨在分析早发性和晚发性癌症的发病率和危险因素的趋势。我们从开luan研究中提取数据进行了前瞻性研究。这项研究包括6,741名癌症参与者(624名早发癌症和6,117名晚发癌症)和6,780名匹配的对照组,其中186,249名参与者在2006年至2019年期间接受了Kailuan健康检查。主要结果是癌症发病率,以及早期和晚期癌症的相关危险因素。加权Cox回归用于计算每个暴露因子的风险比和95%置信区间对于癌症类型的早期和晚期癌症。人口归因风险比例用于估计可以通过从人口中消除风险因素来预防的病例数。除了肝癌,在研究期间,几乎所有类型癌症的发病率都增加了。吸烟,酒精消费,脂质代谢紊乱,高血压,糖尿病,脂肪肝,炎症与多个部位的癌症风险显着增加有关,但癌症发病率的危险因素因部位而异。吸烟,酒精消费,炎症,和高血压是可预防癌症的主要贡献者。几种不同类型癌症的发病率,包括早发性癌症,在中国东北正在增加。早发性和晚发性恶性肿瘤之间危险因素的差异可能导致这两种特定类型癌症之间观察到的发病率趋势变化的差异。
    The characteristics of early-onset (onset age <50 years) and later-onset (onset age ≽ 50 years) cancers differ significantly. Identifying novel risk factors for both types of cancer is crucial for increasing awareness of cancer prevention and for reducing its burden. This study aimed to analyze the trends in incidence and risk factors for early-onset and late-onset cancers. We conducted a prospective study by drawing data from the Kailuan Study. This study included 6,741 participants with cancer (624 with early-onset cancer and 6,117 with later-onset cancer) and 6,780 matched controls among the 186,249 participants who underwent Kailuan health examinations from 2006 to 2019. The primary outcomes were cancer incidence rates, and associated risk factors for early- and later-onset cancer. Weighted Cox regression was used to calculate hazard ratios and 95% confidence intervals of each exposure factor for early- and later-onset cancer by cancer type. Population-attributable risk proportions were used to estimate the number of cases that could be prevented by eliminating a risk factor from the population. Except for liver cancer, incidence rates for nearly all types of cancer increased during the study period. Smoking, alcohol consumption, lipid metabolism disorders, hypertension, diabetes mellitus, fatty liver, and inflammation were associated with a significantly increased risk of cancer at multiple sites, but risk factors for cancer incidence differed by site. Smoking, alcohol consumption, inflammation, and hypertension were the major contributors to preventable cancer. The incidence of several different types of cancer, including early-onset cancer, is increasing in northeastern China. Differences in risk factors between early-onset and later-onset malignancies may contribute to the divergence in the observed changes in incidence trends between these two specific types of cancer.
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  • 文章类型: Journal Article
    目的:我们的目的是研究系统性红斑狼疮(SLE)早发性患者单基因病因的存在。
    方法:本研究纳入了15例早期发病(≤6年)的儿童SLE患者。所有患者均符合系统性狼疮国际合作诊所(SLICC)标准。基因组DNA用于全外显子组测序(WES)。通过Sanger测序确认病原变异。
    结果:纳入研究的15例早发性SLE患者的中位诊断年龄为4(2-6)岁(F/M=12/3)。在这些患者中有5例(33.3%)检测到明显的基因突变。具有纯合DNASE1L3突变[c.320+4_320+7del和G188A(c.563G>C)变体]的患者1和2有皮肤受累和口腔溃疡。其中一名患者(患者1)患有关节炎和肾炎,另一名患者(2例)有无瘢痕性脱发和血小板减少症.它们目前临床上不活跃,但具有阳性血清学结果。具有纯合致病性ACP5突变[G109R(c.325G>A)变体]的患者3患有关节炎,肾炎,身材矮小,和骨骼发育不良。具有杂合子新IFIH1突变[L809F(c.2425C>T)变体]的患者4具有皮肤发现和白细胞减少症。具有新的C1S变体[纯合C147W(c.441C>G)变体]的患者5具有明显的皮肤发现,口腔溃疡,无瘢痕性脱发,全血细胞减少症,和低总溶血补体CH50水平。所有患者对治疗有反应,系统性红斑狼疮疾病活动指数(SLEDAI)评分较低,关于治疗。
    结论:应调查早发性SLE的遗传原因,为了更好的管理和遗传咨询。另一方面,多中心研究可能有助于进一步定义基因型-表型关联。
    OBJECTIVE: We aimed to investigate the presence of monogenic causes of systemic lupus erythematosus (SLE) in our early-onset SLE patients.
    METHODS: Fifteen pediatric SLE cases who had early disease onset (≤6 years) were enrolled in this study. All patients fulfilled the Systemic Lupus International Collaborating Clinics (SLICC) criteria. Genomic DNA was used for whole exome sequencing (WES). Pathogenic variants were confirmed by Sanger sequencing.
    RESULTS: The median age at diagnosis of 15 early-onset SLE patients included in the study was 4 (2-6) years (F/M = 12/3). Significant gene mutations were detected in five of these patients (33.3%). Patients 1 and 2 with homozygous DNASE1L3 mutations [c.320+4_320+7del and G188 A (c.563 G>C) variants] had skin involvement and oral ulcers. One of them (patient 1) had arthritis and nephritis, and another (patient 2) had nonscarring alopecia and thrombocytopenia. They are currently clinically inactive but have positive serological findings. Patient 3 with homozygous pathogenic ACP5 mutation [G109 R (c.325 G>A) variant] had arthritis, nephritis, short stature, and skeletal dysplasia. Patient 4 with a heterozygote novel IFIH1 mutation [L809 F (c.2425 C>T) variant] had skin findings and leukopenia. Patient 5 with novel C1S variant [homozygous C147 W (c.441 C>G) variant] had marked skin findings, oral ulcers, nonscarring alopecia, pancytopenia, and low total hemolytic complement CH50 level. All patients have responded to the treatments and have low Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores, on therapy.
    CONCLUSIONS: Genetic causes should be investigated in early-onset SLE, for better management and genetic counseling. On the other hand, multicenter studies may help to further define genotype-phenotype associations.
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  • 文章类型: Journal Article
    目的:本研究旨在探讨肿瘤大小对早发性结肠癌和直肠癌患者生存率的影响。
    方法:从监测中确定了早发性结肠癌和直肠癌患者,流行病学,2004年至2015年的最终结果(SEER)数据库。将肿瘤大小作为连续变量和分类变量进行分析。几种统计技术,包括限制三次样条(RCS),Cox比例风险模型,亚组分析,倾向得分匹配(PSM),和Kaplan-Meier生存分析,用于证明早发性结肠癌和直肠癌的肿瘤大小与总生存期(OS)和癌症特异性生存期(CSS)之间的关联。
    结果:纳入1.75万551(76.7%)早发性结肠癌患者和5323(23.3%)直肠癌患者。RCS分析证实了肿瘤大小和存活率之间的线性关系。肿瘤大小>5cm的患者的OS和CSS较差,与肿瘤大小≤5cm的早发性结肠癌和直肠癌相比。值得注意的是,亚组分析显示,在II期早发性结肠癌中,较小的肿瘤大小(≤50mm)与较差的生存率相关,虽然没有统计学意义。PSM之后,Kaplan-Meier生存曲线显示,肿瘤大小≤50mm的患者生存优于肿瘤大小>50mm的患者。
    结论:肿瘤大于5cm的患者在早发性结肠癌和直肠癌中的生存率较差。然而,较小的肿瘤大小可能表明更具生物学侵袭性的表型,与II期早发性结肠癌生存率较差相关。
    OBJECTIVE: This study aimed to investigate the impact of tumor size on survival in early-onset colon and rectal cancer.
    METHODS: Early-onset colon and rectal cancer patients were identified from the Surveillance, Epidemiology, and End Results (SEER) database between 2004 and 2015. Tumor size was analyzed as both continuous and categorical variables. Several statistical techniques, including restricted cubic spline (RCS), Cox proportional hazard model, subgroup analysis, propensity score matching (PSM), and Kaplan-Meier survival analysis, were employed to demonstrate the association between tumor size and overall survival (OS) and cancer-specific survival (CSS) of early-onset colon and rectal cancer.
    RESULTS: Seventeen thousand five hundred fifty-one (76.7%) early-onset colon and 5323 (23.3%) rectal cancer patients were included. RCS analysis confirmed a linear association between tumor size and survival. Patients with a tumor size > 5 cm had worse OS and CSS, compared to those with a tumor size ≤ 5 cm for both early-onset colon and rectal cancer. Notably, subgroup analysis showed that a smaller tumor size (≤ 50 mm) was associated with worse survival in stage II early-onset colon cancer, although not statistically significant. After PSM, Kaplan-Meier survival curves showed that the survival of patients with tumor size ≤ 50 mm was better than that of patients with tumor size > 50 mm.
    CONCLUSIONS: Patients with tumors larger than 5 cm were associated with worse survival in early-onset colon and rectal cancer. However, smaller tumor size may indicate a more biologically aggressive phenotype, correlating with poorer survival in stage II early-onset colon cancer.
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  • 文章类型: Journal Article
    虽然肝细胞癌(HCC)是一种高度异质性的疾病,具有不同的肿瘤发生机制和生物学特征,对早发性和晚发性HCC之间的远处转移(DM)和预后差异了解甚少。这项研究将早发性疾病定义为在50岁以下的年龄被诊断出的癌症,并旨在提供全面的分析以根据年龄来表征这些差异。
    HCC患者的信息是从SEER数据库和我们医院回顾性收集的。患者人口统计学,肿瘤特征,比较两组患者的生存率。采用1:1倾向得分匹配(PSM)来调整混杂因素。采用Logistic和Cox分析探讨DM的危险因素及预后。分别。此外,通过Kaplan-Meier曲线和对数秩检验评估生存差异.
    总共,纳入了从SEER数据库获得的19187例HCC患者和从我们自己的中心获得的129例HCC患者。在19187例HCC患者中,在匹配的队列中确定3376人,包括1688例早发型患者和1688例晚发型患者。与晚发性肝癌相比,早发性HCC更有可能发生在女性中(25.2%与22.9%,P=0.030),有大肿瘤(>10.0厘米,24.1%vs.14.6%,P=0.000),低分化/未分化癌症(17.0%vs.14.0%,P=0.003),目前临床晚期(T3+T4,33.7%vs.28.5%;N1,9.2%与6.7%;P=0.000),并发展为DM(13.0%vs.9.5%,P=0.000)。在通过PSM调整混杂因素后,我们发现早发性HCC仍然是DM的独立危险因素.然而,结合Kaplan-Meier曲线和Cox分析,早发性HCC是生存的独立有利预测因子.我们在我们医院的独立队列中验证了这些数据。
    在这项基于人群的研究中,尽管发展DM更频繁,早发性HCC的预后优于晚发性HCC.然而,需要进一步研究以了解差异的潜在病因.
    UNASSIGNED: While hepatocellular carcinoma (HCC) represents a highly heterogeneous disease with variable oncogenesis mechanisms and biological features, little is understood about differences in distant metastasis (DM) and prognosis between early-onset and late-onset HCC. This study defined early-onset disease as cancer diagnosed at age younger than 50 years and aimed to present a comprehensive analysis to characterize these disparities based on age.
    UNASSIGNED: Information of HCC patients was retrospectively collected from the SEER database and our hospital. Patient demographics, tumor characteristics, and survival were compared between the two groups. A 1:1 propensity score matching (PSM) was adopted to adjust confounding factors. Logistic and cox analysis were utilized to explore risk factors of DM and prognosis, respectively. Besides, the survival differences were assessed by the Kaplan-Meier curve and log-rank test.
    UNASSIGNED: In total, 19187 HCC patients obtained from the SEER database and 129 HCC patients obtained from our own center were enrolled. Among 19187 patients with HCC, 3376 were identified in the matched cohort, including 1688 early-onset patients and 1688 late-onset patients. Compared with late-onset HCC, early-onset HCC was more likely to occur in female (25.2% vs. 22.9%, P = 0.030), have large tumors (>10.0 cm, 24.1% vs. 14.6%, P = 0.000), harbor poorly differentiated/undifferentiated cancers (17.0% vs. 14.0%, P = 0.003), present advanced clinical stage (T3+T4, 33.7% vs. 28.5%; N1, 9.2% vs. 6.7%; P = 0.000), and develop DM (13.0% vs. 9.5%, P = 0.000). After adjustment for confounders by PSM, we discovered that early-onset HCC remained an independent risk factor for DM. However, combined with Kaplan-Meier curve and cox analysis, early-onset HCC was an independent favorable predictor of survival. We validated these data on an independent cohort from our hospital.
    UNASSIGNED: In this population-based study, despite developing DM more frequently, early-onset HCC exhibited a superior prognosis than late-onset HCC. Nevertheless, further research is warranted to understand the underlying aetiologic basis for the disparities.
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