re-evaluation

重新评价
  • 文章类型: Journal Article
    胸腺上皮肿瘤(TET),包括胸腺瘤和胸腺癌,代表一组罕见且异质性的胸部恶性肿瘤,其预后和治疗策略各不相同。手术切除是局部阶段治疗的基石,但是局部晚期或不可切除的TET的管理通常涉及诱导治疗,包括化疗和/或放疗,作为一种新辅助方法,旨在降低肿瘤分期以促进后续切除。这篇综述综合了目前对TET诱导治疗后的重新评估过程和手术适应症的知识,强调准确评估在指导手术决策和优化患者预后方面的关键作用。诱导治疗的疗效取决于精确的重新评估方法,以准确评估治疗反应并评估治疗后的可切除性。这篇综述讨论了重新评估中采用的各种模式,包括计算机断层扫描(CT),磁共振成像(MRI),正电子发射断层扫描-CT(PET-CT),以及肿瘤标志物的意义,强调他们的优势和局限性。国际胸腺恶性肿瘤利益集团(ITMIG)采用修改的TETRECIST标准强调了标准化评估指南的必要性,以确保研究和临床实践的一致性和可靠性。此外,我们探讨了诱导治疗对手术决策的影响,强调确定患者治疗后是否适合手术干预的标准。审查讨论了与重新评估过程相关的挑战和未来观点,包括先进成像技术的潜力以及分子和遗传标记的整合,以提高治疗反应评估的准确性。总之,在这些患者的多学科管理方法中,诱导治疗后对TETs的重新评估是一个复杂但关键的组成部分.标准化重新评估方法和纳入新的诊断工具可以显着改善预后和治疗分层。最终提高晚期TET患者的治疗效果。
    Thymic epithelial tumors (TETs), encompassing thymoma and thymic carcinoma, represent a rare and heterogeneous group of thoracic malignancies with varying prognoses and treatment strategies. Surgical resection is the cornerstone of therapy for localized stages, but the management of locally advanced or unresectable TETs often involves induction therapy, including chemotherapy and/or radiation therapy, as a neoadjuvant approach aimed at downstaging the tumor to facilitate subsequent resection. This review synthesizes current knowledge on the re-evaluation process and operative indications following induction therapy for TETs, highlighting the pivotal role of accurate assessment in guiding surgical decisions and optimizing patient outcomes. Induction therapy\'s efficacy is contingent upon precise re-evaluation methods to accurately gauge treatment response and assess resectability post-therapy. This review discusses the various modalities employed in re-evaluation, including computed tomography (CT), magnetic resonance imaging (MRI), positron emission tomography-CT (PET-CT), and the significance of tumor markers, underlining their strengths and limitations. The adoption of modified RECIST criteria for TETs by the International Thymic Malignancy Interest Group (ITMIG) underscores the necessity for standardized assessment guidelines to ensure consistency and reliability across studies and clinical practices. Furthermore, we explore the implications of induction therapy on surgical decision-making, emphasizing the criteria for determining the suitability of patients for surgical intervention post-therapy. The review addresses the challenges and future perspectives associated with the re-evaluation process, including the potential for advanced imaging techniques and the integration of molecular and genetic markers to enhance the precision of treatment response assessment. In conclusion, the re-evaluation of TETs post-induction therapy is a complex but critical component of the multidisciplinary management approach for these patients. Standardizing re-evaluation methodologies and incorporating novel diagnostic tools could significantly improve the prognostication and treatment stratification, ultimately enhancing the therapeutic outcomes for patients with advanced TETs.
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  • 文章类型: Journal Article
    证据表明,相对于其他种类的视觉测试刺激,一些孤立的海马损伤患者似乎存在选择性保留不熟悉的面部识别(例如,words).BirdandBurgess(2008)对一组10例病例进行了回顾和二次分析,所有病例都进行了单词和面部识别记忆的临床评估(RMT,Warrington,1984),这证实了小组层面的关键记忆分离。当前的工作提供了对此类病例的更新的二次分析,并提供了更大的公开样本(N=52)。除了组级别的分析,我们还使用单例统计方法重新评估证据(Crawford&Garthwaite,2005),使我们能够确定有多少人会成为“经典分离”的标准(克劳福德,加思韦特,&Gray,2003).总的来说,组水平分析显示,局限于词语的显著差异的关键模式仅限于小的对照样本比较.当使用BirdandBurgess(2008)提供的大型对照样本时,两组的海马病例均明显较差。此外,我们的单例方法表明,很少有跨面孔>单词类别的相对差异的表现模式符合统计学意义;即在跨类别的个体差异内,这将保证显著的“经典分离”。此外,这些分析还发现了几个相反方向的“经典分离”案例:即保留单词识别。这样的分析可以证明,在报告识别记忆中的类别的选择性“保留”时,需要采取更保守的统计方法。虽然材料特异性对理解海马在记忆中的作用具有重要意义,我们的研究结果突出表明,在提出任何索赔之前,统计学方法无疑是严格的.最后,我们强调对小组分析至关重要的其他方法问题,并为未来的工作提出建议。
    Evidence suggests that some patients with isolated hippocampal damage appear to present with selective preservation of unfamiliar face recognition relative to other kinds of visual test stimuli (e.g., words). Bird and Burgess (2008) formulated a review and secondary analysis of a group of 10 cases all tested on a clinical assessment of word and face recognition memory (RMT, Warrington, 1984), which confirmed the key memory dissociation at the group level. The current work provides an updated secondary analysis of such cases with a larger published sample (N = 52). In addition to group-level analyses, we also re-evaluate evidence using a single case statistical approach (Crawford & Garthwaite, 2005), enabling us to determine how many would make criteria for a \'classical dissociation\' (Crawford, Garthwaite, & Gray, 2003). Overall, group-level analyses indicated the key pattern of significant differences confined to words was limited to small control sample comparisons. When using the large control sample provided by Bird and Burgess (2008), hippocampal cases as a group were significantly poorer for both classes of items. Furthermore, our single-case approach indicated few had a performance pattern of a relative difference across face > word categories that would meet statistical significance; namely within individual differences across categories that would warrant a significant \'classical dissociation\'. Moreover, these analyses also found several cases with a \'classical dissociation\' in the reverse direction: namely preserved recognition of words. Such analyses serve to demonstrate the need for a more conservative statistical approach to be undertaken when reporting selective \'preservation\' of a category in recognition memory. Whilst material specificity has important implications for understanding the role of the hippocampus in memory, our results highlight the need for statistical methods to be unquestionably rigorous before any claims are made. Lastly, we highlight other methodological issues critical to group analyses and make suggestions for future work.
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  • 文章类型: Journal Article
    目的:先天性甲状腺功能减退症(CH)是通过新生儿筛查诊断的,并在新生儿期早期进行治疗。在这些患者中,瞬态CH(TCH)包括在内,需要重新评估。这项研究的目的是找到停止左甲状腺素的最佳方法,并在重新评估后发现甲状腺功能测试(TFT)的趋势。
    方法:我们回顾性分析了388例确诊为CH的患者。它们被分类为永久性CH(PCH)和TCH。PCH和TCH组的总数为83个(51个男孩和32个女孩)。我们比较了临床参数以预测TCH并确定TFT的趋势。
    结果:PCH组停药后第一促甲状腺激素(TSH)值和1、2、3年平均TSH值均显著高于PCH组(P<0.01)。停药后首次fT4值及1年、2年、3年平均fT4值均明显高于TCH组(P<0.01)。TSH平均3年的PCH预测受试者工作特征曲线上的最佳截止值大于9.05μIU/mL,以100%的灵敏度和100%的特异性进行预测。
    结论:当TSH值范围为10μIU/mL至20μIU/mL时,如果下一个结果在10μIU/mL左右或呈下降趋势,临床医生可以停用左甲状腺素.
    OBJECTIVE: Congenital hypothyroidism (CH) is diagnosed with neonatal screening and is treated early in the neonatal period. Among these patients, transient CH (TCH) is included and requires re-evaluation. The purpose of this study was to find the best way to discontinue levothyroxine and to find trends in thyroid function tests (TFTs) after re-evaluation.
    METHODS: We retrospectively reviewed 388 patients diagnosed with CH. They were classified as permanent CH (PCH) and TCH. The total number of the PCH and TCH groups was 83 (51 boys and 32 girls). We compared clinical parameters to predict TCH and to identify the trends of TFT.
    RESULTS: The first thyroid-stimulating hormone (TSH) value after discontinuation and the average TSH value for 1, 2, and 3 years were all significantly higher in the PCH group (P<0.01). The first fT4 value after discontinuation and the average fT4 value for 1, 2, and 3 years were all significantly higher in the TCH group (P<0.01). The optimal cutoff value on the receiver operating characteristic curve for PCH prediction with an average of 3 years of TSH was greater than 9.05 μIU/mL, which was predicted with a sensitivity of 100% and a specificity of 100%.
    CONCLUSIONS: When the TSH value ranges from 10 μIU/mL to 20 μIU/mL, clinicians can discontinue levothyroxine if the next result is around 10 μIU/mL or shows a decreasing trend.
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  • 文章类型: Editorial
    暂无摘要。
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  • 文章类型: Journal Article
    罕见的遗传病是儿童严重疾病的主要原因。全外显子组测序(WES)是识别罕见疾病遗传原因的强大工具。为了更好更快地评估在WES的索引患者中识别出的大量变异,可以应用亲本测序(“三联WES”)。
    我们评估了常规三重奏WES的诊断率,包括在三年的评估期内分析224名儿科患者的拷贝数变异。
    TrioWES在所有224名接受分析的儿童中的67名(30%)提供了诊断。三重奏WES分析的周转时间已从2019年的41天大幅缩短至2021年的23天。拷贝数变异在10例(4.5%)中可以被鉴定为致病的,拷贝数变异分析的重要性。使用匹配工具GeneMatcher鉴定了以前与临床状况无关的三个基因(GAD1,TMEM222和ZNFX1)的变体,这些变体是新综合征首次描述的一部分。
    TrioWES已被证明具有很高的诊断率,并缩短了在儿科患者中确定正确诊断的过程。初始分析后1-3年对所有224个三重奏WES的重新评估没有建立新的诊断。应尽早考虑启动(三重奏)WES作为第一层诊断,包括拷贝数变异检测。尤其是在ICU接受治疗的儿童,如果怀疑是单基因疾病。
    UNASSIGNED: Rare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of variants that are identified in the index patient in WES, parental sequencing can be applied (\"trio WES\").
    UNASSIGNED: We assessed the diagnostic rate of routine trio WES including analysis of copy number variants in 224 pediatric patients during an evaluation period of three years.
    UNASSIGNED: Trio WES provided a diagnosis in 67 (30%) of all 224 analysed children. The turnaround time of trio WES analysis has been reduced significantly from 41 days in 2019 to 23 days in 2021. Copy number variants could be identified to be causative in 10 cases (4.5%), underlying the importance of copy number variant analysis. Variants in three genes which were previously not associated with a clinical condition (GAD1, TMEM222 and ZNFX1) were identified using the matching tool GeneMatcher and were part of the first description of a new syndrome.
    UNASSIGNED: Trio WES has proven to have a high diagnostic yield and to shorten the process of identifying the correct diagnosis in paediatric patients. Re-evaluation of all 224 trio WES 1-3 years after initial analysis did not establish new diagnoses. Initiating (trio) WES as a first-tier diagnostics including copy number variant detection should be considered as early as possible, especially for children treated in ICU, if a monogenetic disease is suspected.
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  • 文章类型: Journal Article
    中药注射剂是现代制药技术与中药处方相结合的产物,它诞生于1941年,对当时落后的医疗条件起了很大的作用。然而,由于药物不良反应(ADR),关于中药注射剂的争论从未停止过。2017年以来对中药注射剂的监管进一步加强,促使许多中药注射剂开展质量再评价,安全,效率以及药物经济学,取得了重大的变化和进步。这篇综述对这些类型进行了最新的分析,amounts,根据已发表的数据和文献,中药注射剂的不良反应。这篇综述还总结了ADR和重新评估策略的潜在原因。本综述将为中药注射剂及其临床应用提供一些有用的线索。
    Traditional Chinese medicine (TCM) injection is the combination of modern pharmaceutical technology and traditional Chinese prescription, which was born in 1941 and played a great role in the backward medical conditions at that time. However, the debate over TCM injections has never stopped due to adverse drug reactions (ADRs). The regulation on TCM injections has been further strengthened since 2017, which has prompted many TCM injections to carry out re-evaluations on quality, safety, efficiency as well as pharmacoeconomics, which made significant changes and progress. This review presented an up-to-date analysis of the types, amounts, and ADRs of TCM injections based on the published data and literature. This review also summarized the potential reasons for the ADRs and re-evaluation strategies. This review will provide some useful clues for TCM injections and their clinical use.
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  • 文章类型: Journal Article
    目的:多年来,全球范围内的先天性甲状腺功能减退症(CH)发病率增加。在这项研究中,我们旨在调查CH的流行病学特征,广州的碘状况,调查中国2010-2020年可能影响CH发病率的因素。
    方法:我们回顾性回顾了2010-2020年期间通过新生儿筛查检测到的所有CH病例。根据首次诊断时的甲状腺超声,CH被分为可疑的甲状腺发育不良(SDH)或甲状腺发育不全(TD)。在2-3岁时停用L-甲状腺素4周后对患者进行重新评估,以确认诊断为永久性CH(PCH)或一过性CH(TCH)。
    结果:从2010年到2020年,从2,400,383例新生儿(1:1,450)中确认了1,655例CH患者。CH发病率从[2010-2014]期间的1:2,584增加到[2015-2020]期间的1:1,086。在1,337例甲状腺超声检查患者中,84.29%为SDH,15.71%为TD。进一步分析显示,更多的SDH(78.32%)是TCH,而更多的TD(87.12%)是PCH。血斑点促甲状腺激素值>5mIU/L的比例为8.03%至20.46%,表明碘缺乏。早产儿的患病率从[2010-2014年]的5.50%上升到[2015-2020年]的7.06%(p<0.001)。
    结论:在过去的十年中,CH发病率逐渐增加。SDH是CH的大多数,其中大部分是TCH,而大多数TD患者为PCH。在我们的研究中,发病率增加可能主要是由于碘缺乏和早产儿发病率增加。
    OBJECTIVE: An increased incidence of congenital hypothyroidism (CH) has been described worldwide over the years. In this study, we aimed to investigate the epidemiologic characteristics of CH, the iodine status in Guangzhou, China and to investigate which factors might influence the CH incidence during the period 2010-2020.
    METHODS: We retrospectively reviewed all cases of CH detected by newborn screening during the period 2010-2020. CH was classified as either suspected thyroid dyshormonogenesis (SDH) or thyroid dysgenesis (TD) based on thyroid ultrasound at first diagnosis. Patients were re-evaluated after 4 weeks of L-thyroxine withdrawal at age of 2-3 years to confirm the diagnosis of permanent CH (PCH) or transient CH (TCH).
    RESULTS: From 2010 to 2020, 1,655 patients with CH were confirmed from 2,400,383 newborns (1:1,450). The CH incidence increased from 1:2,584 in period [2010-2014] to 1:1,086 in period [2015-2020]. Among the 1,337 patients with thyroid ultrasound, 84.29% were SDH whereas 15.71% had TD. Further analysis revealed that more SDH (78.32%) were TCH whereas more TD (87.12%) turned to be PCH. The proportion of blood spot thyrotropin values >5 mIU/L ranged from 8.03 to 20.46%, indicating iodine deficiency. The prevalence of preterm infants increased from 5.50% in period [2010-2014] to 7.06% in period [2015-2020] (p<0.001).
    CONCLUSIONS: In the past decade, the CH incidence has increased progressively. SDH was the majority of CH, most of which were TCH, while most patients with TD were PCH. The increased incidence might be mainly due to iodine deficiency and increased rates of preterm infants in our study.
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  • 文章类型: English Abstract
    Challenges and Influencial Factors in Autism-Specific Diagnostics in Toddlers Abstract. Objective: What are the particular challenges that make early diagnosis of young children difficult in the clinical routine? What recommendations can be derived from this in practice? Methods: Our interdisciplinary social pediatric team examined 31 toddlers aged 2 to 3 years twice in intervals of 6-9 months in the for outpatient diagnostics regarding suspected autism spectrum disorder (ASD). In addition, we conducted an online survey with further experts. Results: After the first anamnestic interview, 8 of the 31 (26 %) children were diagnosed with a differential diagnosis of ASD. Comorbid disorders, familial peculiarities, and challenges posed by the examination setting and anamnesis made a reliable clinical classification difficult. Conclusion: In our experience, many toddlers can only receive a valid diagnosis after a follow-up examination after starting one or more therapies and regularly carrying out these therapies over a period of 6-9 months and possibly also after structural changes have taken place (care in nursery, implementation of youth welfare measures, or similar).
    Zusammenfassung. Fragestellung: Welche Faktoren erschweren im klinischen Alltag eine frühe Diagnosestellung bei Kleinkindern? Welche Empfehlungen lassen sich daraus für die Praxis ableiten? Methodik: 31 Kleinkinder im Alter von 2 bis 3 Jahren wurden zur ambulanten Diagnostik bei Verdacht auf Vorliegen einer Autismus-Spektrum-Störung zweimal im Abstand von 6 bis 9 Monaten im interdisziplinären sozialpädiatrischen Team untersucht. Ergänzend führten wir eine Onlinebefragung weiterer Expert_innen anderer Diagnostikzentren durch. Ergebnisse: Nach der Erstvorstellung konnte bei 8 von 31 (26 %) Kindern eine gesicherte Diagnose vergeben werden. Komorbide Störungen, familiäre Besonderheiten sowie Besonderheiten das Untersuchungssetting und die Anamneseerhebung betreffend erschwerten eine sichere klinische Einordnung. Diskussion: Die Daten unserer Studie legen nahe, dass bei Kleinkindern erst nach Aufnahme einer oder mehrerer Therapien und regelmäßiger Durchführung dieser über einen Zeitraum von 6 bis 9 Monaten sowie ggf. auch nach erfolgten strukturellen Veränderungen (Betreuung im Kindergarten, Implementierung von Jugendhilfemaßnahmen o. Ä.) eine valide Diagnosestellung im Rahmen einer Verlaufsbeurteilung erfolgen kann.
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  • 文章类型: Editorial
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  • 文章类型: Journal Article
    肌萎缩侧索硬化症(ALS)是最常见的运动神经元疾病,其原因尚不清楚。与该疾病的常染色体显性形式有关的第一个ALS基因是SOD1。这个基因有很高的罕见变异率,正确的分类对ALS诊断至关重要.在这项研究中,我们重新评估了所有先前报道的来自ALSoD的SOD1变体(n=202)的分类,MinE项目,和内部数据库,通过将ACMG-AMP标准应用于ALS。新的生物信息学分析,频率额定值,并对功能研究进行了彻底的搜索。我们还提出了调整标准强度,描述了如何将其应用于SOD1变体。根据PS3标准的修改权重,大多数先前报道的变体已被重新分类为可能的致病性和致病性。强调体内或体外功能研究如何确定其解释和分类。此外,这项研究揭示了开放数据库之间注释的一致性和不一致性,表明需要专家审查,以适应特定疾病的变异研究。的确,在复杂的疾病中,比如ALS,寡基因遗传,必须考虑作为危险因素的基因的存在和渗透的减少。总的来说,ALS的诊断仍然是临床的,改进变异分类可以支持遗传数据作为诊断标准。
    Amyotrophic lateral sclerosis (ALS) is the most common type of motor neuron disease whose causes are unclear. The first ALS gene associated with the autosomal dominant form of the disease was SOD1. This gene has a high rate of rare variants, and an appropriate classification is essential for a correct ALS diagnosis. In this study, we re-evaluated the classification of all previously reported SOD1 variants (n = 202) from ALSoD, project MinE, and in-house databases by applying the ACMG-AMP criteria to ALS. New bioinformatics analysis, frequency rating, and a thorough search for functional studies were performed. We also proposed adjusting criteria strength describing how to apply them to SOD1 variants. Most of the previously reported variants have been reclassified as likely pathogenic and pathogenic based on the modified weight of the PS3 criterion, highlighting how in vivo or in vitro functional studies are determining their interpretation and classification. Furthermore, this study reveals the concordance and discordance of annotations between open databases, indicating the need for expert review to adapt the study of variants to a specific disease. Indeed, in complex diseases, such as ALS, the oligogenic inheritance, the presence of genes that act as risk factors and the reduced penetration must be considered. Overall, the diagnosis of ALS remains clinical, and improving variant classification could support genetic data as diagnostic criteria.
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