Diagnostic criteria

诊断标准
  • 文章类型: Journal Article
    对于早期膝骨性关节炎(KOA)尚无明确的定义,也不是分类标准。识别出现早期KOA症状的个体的特征可以增强诊断以防止进展。这项研究旨在描述在首次咨询后两年内出现膝关节不适的个体的临床和结构特征。同时探索膝关节不适持续时间的差异。
    基线数据来自LITE随机对照试验,评估生活方式干预对初级保健中膝关节主诉和超重患者的有效性.基线评估包括问卷,临床评估,和最有症状的膝盖的MRI。评估了膝关节不适持续时间不同(<12,≥12-<24,≥24个月)的组间差异。
    参与者(N​=218,65%为女性,平均年龄59±6岁,平均BMI32±5kg/m2)的膝关节投诉持续时间中位数为14个月,KOOS疼痛的平均评分为60±17.46%,他们的症状是不可接受的。在71%的参与者中观察到MRI定义的结构性KOA。不同膝关节主诉持续时间之间的临床或结构MRI特征没有显着差异。
    在初次咨询后的24个月内,超过三分之二的参与者显示MRI定义的结构性KOA,近一半报告了不可接受的症状状态。这项研究发现,膝关节不适的持续时间与症状严重程度或结构性KOA之间没有关联。强调了在超重个体中识别KOA阶段的复杂性。未来的研究应该探索超出当前考虑的其他特征,以促进早期KOA诊断。特别适合超重的人。
    UNASSIGNED: No established definition for early-stage knee osteoarthritis (KOA) is available, nor classification criteria. Identifying the characteristics of individuals presenting with early-stage KOA symptoms can enhance diagnosis to prevent progression. This study aimed to describe clinical and structural features of individuals presenting with knee complaints within two years after their first consultation, while exploring differences in the duration of knee complaints.
    UNASSIGNED: Baseline data was used from the LITE randomized controlled trial, assessing the effectiveness of a lifestyle intervention for individuals with knee complaints and overweight in primary care. Baseline assessments included questionnaires, clinical assessment, and MRI of the most symptomatic knee. Differences between groups with varying durations of knee complaints (<12, ≥12-<24, ≥24 months) were evaluated.
    UNASSIGNED: Participants (N ​= ​218, 65% female, mean age 59 ​± ​6 years, mean BMI 32 ​± ​5 ​kg/m2) had a median knee complaint duration of 14 months, with an average KOOS pain score of 60 ​± ​17.46% reported their symptoms as unacceptable. Structural MRI-defined KOA was observed in 71% of participants. There were no significant differences in clinical or structural MRI features between different durations of knee complaints.
    UNASSIGNED: Within 24 months of initial consultation, over two-thirds of participants displayed MRI-defined structural KOA, and nearly half reported unacceptable symptom states. This study found no association between the duration of knee complaints and symptoms severity or structural KOA presence, underscoring the complexity of identifying stages of KOA among individuals with overweight. Future studies should explore additional features beyond current considerations to facilitate early-stage KOA diagnosis, specifically for individuals with overweight.
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  • 文章类型: Journal Article
    国际骨髓瘤工作组(IMWG)生物标志物(SLiM标准)引入十年后,这项现实世界的研究检查了它们对诊断的影响,骨髓瘤的治疗和结果。使用ANZMRDR,2013年至2023年,新诊断患者3489例,包括CRAB诊断的3232例(“CRAB患者”,分析了1758名也满足≥1个SLiM标准的患者)和257名SLiM(“SLiM患者”)标准。CRAB患者的R-ISS较高,表现状态较低,细胞遗传学风险没有差异。SLiM患者无进展生存期(PFS,37.5vs.32.2个月,危险比[HR]1.31[1.08-1.59],p=0.003),总生存率(80.9vs.73.2个月,HR1.64[1.26-2.13],p<0.001)和PFS2(54.6vs.40.3个月,HR1.51[1.22-1.86],p<0.001)与CRAB患者相比,部分由早期诊断解释,浆细胞和轻链标准对PFS没有不同的影响。然而,34%的CRAB患者没有表现出SLiM特征,提高SLiM特征与不同生物学行为相关的可能性,有助于更好的预后,例如,SLiM患者PFS2改善提示首次复发时的抗病性较低.这些数据支持SLiM较早开始治疗。SLiM优于CRAB患者的生存结果突出了在解释诱导和首次复发时治疗结果时定义这些亚组的重要性。
    A decade after International Myeloma Working Group (IMWG) biomarkers (SLiM criteria) were introduced, this real-world study examined their impact on diagnosis, therapy and outcomes in myeloma. Using the ANZ MRDR, 3489 newly diagnosed patients from 2013 to 2023, comprising 3232 diagnosed by CRAB (\'CRAB patients\', including 1758 who also satisfied ≥1 SLiM criteria) and 257 by SLiM (\'SLiM patients\') criteria were analysed. CRAB patients had higher R-ISS and lower performance status, with no difference in cytogenetic risk. SLiM patients had improved progression-free survival (PFS, 37.5 vs. 32.2 months, hazard ratio [HR] 1.31 [1.08-1.59], p = 0.003), overall survival (80.9 vs. 73.2 months, HR 1.64 [1.26-2.13], p < 0.001) and PFS2 (54.6 vs. 40.3 months, HR 1.51 [1.22-1.86], p < 0.001) compared with CRAB patients, partially explained by earlier diagnosis, with no differential impact between the plasma cell and light-chain criteria on PFS. However, 34% of CRAB patients did not manifest SLiM characteristics, raising the possibility that SLiM features are associated with different biological behaviours contributing to a better prognosis, for example, improved PFS2 in SLiM patients suggested less disease resistance at first relapse. These data support earlier initiation of therapy by SLiM. The superior survival outcomes of SLiM versus CRAB patients highlight the importance of defining these subgroups when interpreting therapeutic outcomes at induction and first relapse.
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  • 文章类型: Journal Article
    目的:ESPEN和EASO最近制定了关于节育性肥胖(SO)的共识标准,采用骨骼肌质量与重量(SMM/W)的比率。新的证据表明,根据体重指数(SMM/BMI)调整骨骼肌质量可以提高健康结果的预测准确性。我们旨在验证ESPEN/EASO标准,并探讨SMM/BMI调整在预测中国西部老年人跌倒中的潜在益处。
    方法:我们进行了多中心,横断面研究,包括社区居住的老年人。使用标准的ESPEN/EASO共识标准(SOESPEN)和调整SMM/BMI的修改版本(SOESPEN-M)确定SO的诊断。SOESPEN协会,SOESPEN-M,并分析了它们与跌倒的成分。
    结果:在1353名参与者中,SO的患病率为13.2%(SOESPEN)和11.4%(SOESPEN-M),随着年龄和较高的BMI水平而增加。在BMI正常的参与者中,4.2%和6.2%被发现有SOESPEN和SOESPEN-M,分别。SMM/W和SMM/BMI与跌倒风险呈负相关(分别为p=0.042和p=0.021)。在调整混杂因素后,只有SOESPEN与跌倒显着相关(优势比[OR]1.61,95%置信区间[CI]1.08至2.40),而SOESPEN-M的关联没有达到显著性(OR1.55,95%CI0.99~2.43).
    结论:这项研究在中国西部社区居住的老年人中验证了ESPEN/EASO标准(SOESPEN)及其修改版本(SOESPEN-M)。SMM/BMI调整似乎提供了对SO患病率的较低估计,只有SOESPEN显示与跌倒有显著关联。
    OBJECTIVE: The ESPEN and the EASO recently developed consensus criteria for sarcopenic obesity (SO), employing the skeletal muscle mass to weight (SMM/W) ratio. Emerging evidence suggests that adjusting skeletal muscle mass for body mass index (SMM/BMI) could enhance the predictive accuracy for health outcomes. We aimed to validate the ESPEN/EASO criteria and explore the potential benefits of the SMM/BMI adjustment in predicting falls among older adults in Western China.
    METHODS: We conducted a multicenter, cross-sectional study and included community-dwelling older adults. The diagnosis of SO was determined using the standard ESPEN/EASO consensus criteria (SOESPEN) and a modified version adjusting SMM/BMI (SOESPEN-M). The associations of SOESPEN, SOESPEN-M, and their components with falls were analyzed.
    RESULTS: Among the 1353 participants, the prevalence of SO was 13.2 % (SOESPEN) and 11.4 % (SOESPEN-M), which increased with age and higher BMI levels. Within participants with a normal BMI, 4.2 % and 6.2 % were found to have SOESPEN and SOESPEN-M, respectively. SMM/W and SMM/BMI negatively correlated with fall risk (p=0.042 and p=0.021, respectively). Upon adjusting for confounders, only SOESPEN was significantly associated with falls (odds ratios [OR] 1.61, 95 % confidence interval [CI] 1.08 to 2.40), whereas the association for SOESPEN-M did not achieve significance (OR 1.55, 95 % CI 0.99 to 2.43).
    CONCLUSIONS: This research validated the ESPEN/EASO criteria (SOESPEN) and their modified version (SOESPEN-M) among community-dwelling older adults in Western China. The SMM/BMI adjustment appears to offer a lower estimate of SO prevalence, with only SOESPEN showing a significant association with falls.
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  • 文章类型: Journal Article
    背景:呼吸机相关性肺炎(VAP)是一种常见且严重的医院获得性感染,影响机械通气患者。不同的诊断标准会使病情的识别和管理复杂化,从而显着影响VAP研究。这也可能影响临床管理。
    目的:我们进行了这篇综述,以评估VAP管理的随机对照试验(RCT)中使用的“呼吸机相关”一词的诊断标准和定义。
    方法:基于协议(PROSPERO2019CRD42019147411),我们对MEDLINE/PubMed和CochraneCENTRAL进行了系统的RCT搜索,在2010年至2024年之间发布或注册。
    方法:我们纳入了已完成和正在进行的RCT,用于评估成人VAP的药物或非药物干预措施。
    方法:使用测试的提取表收集数据,得到科克伦合作组织的认可。交叉核对后,数据以叙述和表格形式汇总。
    结果:总计,通过文献检索确定了7173条记录。在排除不符合资格标准的记录之后,纳入119项研究。51.2%的研究提供了诊断标准,术语“呼吸机相关”在52.1%的研究中定义。最常纳入的诊断标准是肺浸润(96.7%),发烧(86.9%),体温过低(49.1%),痰液(70.5%),缺氧(32.8%)。在研究的38个组合中使用了不同的标准。术语“呼吸机相关”有九种不同的定义。
    结论:如果提供,RCT中VAP的诊断标准和定义显示出明显的变异性。在未来的临床试验中,不断努力协调VAP诊断标准对于提高护理质量至关重要。实现准确的流行病学评估,并指导有效的抗菌药物管理。
    BACKGROUND: Ventilator-associated pneumonia (VAP) is a prevalent and grave hospital-acquired infection that affects mechanically ventilated patients. Diverse diagnostic criteria can significantly affect VAP research by complicating the identification and management of the condition, which may also impact clinical management.
    OBJECTIVE: We conducted this review to assess the diagnostic criteria and the definitions of the term \"ventilator-associated\" used in randomised controlled trials (RCTs) of VAP management.
    METHODS: Based on the protocol (PROSPERO 2019 CRD42019147411), we conducted a systematic search on MEDLINE/PubMed and Cochrane CENTRAL for RCTs, published or registered between 2010 and 2024.
    METHODS: We included completed and ongoing RCTs that assessed pharmacological or non-pharmacological interventions in adults with VAP.
    METHODS: Data were collected using a tested extraction sheet, as endorsed by the Cochrane Collaboration. After cross-checking, data were summarised in a narrative and tabular form.
    RESULTS: In total, 7,173 records were identified through the literature search. Following the exclusion of records that did not meet the eligibility criteria, 119 studies were included. Diagnostic criteria were provided in 51.2% of studies, and the term \"ventilator-associated\" was defined in 52.1% of studies. The most frequently included diagnostic criteria were pulmonary infiltrates (96.7%), fever (86.9%), hypothermia (49.1%), sputum (70.5%), and hypoxia (32.8%). The different criteria were used in 38 combinations across studies. The term \"ventilator-associated\" was defined in nine different ways.
    CONCLUSIONS: When provided, diagnostic criteria and definitions of VAP in RCTs display notable variability. Continuous efforts to harmonise VAP diagnostic criteria in future clinical trials are crucial to improve quality of care, enable accurate epidemiological assessments, and guide effective antimicrobial stewardship.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    目标:作为一个人口大国,中国发布了大量的诊断标准。然而,尚未对已发表的诊断标准进行系统分析.因此,这项研究的目的是调查这些特征,开发方法,报告质量,以及中国公布的诊断标准的证据基础。
    方法:从开始到2023年7月31日,我们搜索了五个数据库的诊断标准。通过摘要全文阅读筛选所有诊断标准,如果满足预定标准,则包括在内。两名研究人员独立提取了特征数据,开发方法,报告质量,和诊断标准的证据基础。
    结果:共纳入143项诊断标准。在开发方法方面,涉及系统文献检索的诊断标准比例(n=2;1.4%;95%置信区间(CI),0.4%至5.0%),采用正式共识方法(n=4;2.8%;95%CI,1.1%至7.0%),和标准验证(n=9;6.3%;95%CI,3.3%至11.5%)相对较低。关于报告质量,对ACCORD检查表的平均依从性为5.1%;没有任何诊断标准在注册时报告,专家入选标准,专家招聘流程,或共识结果。大多数标准(58.7%;95%CI,50.6%至66.5%)没有引用任何研究,只有一项(0.7%;95%CI,0.1%~3.9%)标准来自系统评价.此外,只有16.1%(95%CI,11.0%~23.0%)的诊断标准使用了来自中国人群的证据.
    结论:中国制定的诊断标准存在严重缺陷,特别是在证据检索中,组建专家小组,共识方法,和验证。此外,只有少数诊断标准使用了来自中国的证据或证据的系统综合。迫切需要加强制定诊断标准的方法。
    OBJECTIVE: As a large and populous country, China releases a high number of diagnostic criteria. However, the published diagnostic criteria have not yet been systematically analyzed. Therefore, the aim of this study is to investigate the characteristics, development methods, reporting quality, and evidence basis of diagnostic criteria published in China.
    METHODS: We searched five databases for diagnostic criteria from their inception until July 31, 2023. All diagnostic criteria were screened through abstract and full-text reading, and included if satisfying the prespecified criteria. Two researchers independently extracted data on the characteristics, development methods, reporting quality, and evidence basis of diagnostic criteria.
    RESULTS: A total of 143 diagnostic criteria were included. In terms of development methods, the proportions of diagnostic criteria that involved a systematic literature search (n = 2; 1.4%; 95% confidence interval (CI), 0.4% to 5.0%), adoption of formal consensus methods (n = 4; 2.8%; 95% CI, 1.1% to 7.0%), and criteria validation (n = 9; 6.3%; 95% CI, 3.3% to 11.5%) were relatively low. Regarding reporting quality, the average compliance with the ACCORD checklist was 5.1%; none of the diagnostic criteria reported on registration, expert inclusion criteria, expert recruitment process, or consensus results. A majority (58.7%; 95% CI, 50.6% to 66.5%) of criteria did not cite any research, and only one (0.7%; 95% CI, 0.1% to 3.9%) criterion was derived from a systematic review. Moreover, only 16.1% (95% CI, 11.0% to 23.0%) of diagnostic criteria used evidence from the Chinese population.
    CONCLUSIONS: The diagnostic criteria developed in China exhibit serious flaws, particularly in evidence retrieval, formation of expert panels, consensus methods, and validation. Additionally, only few diagnostic criteria used a systematic synthesis of the evidence or evidence from the China. There is an urgent need to enhance the methodology for developing diagnostic criteria.
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  • 文章类型: Journal Article
    多发性硬化症(MS)的诊断检查已经有了很大的发展。McDonald标准的2017年修订显示了在具有典型临床孤立综合征的患者中预测临床明确MS的高灵敏度和准确性,并允许早期MS诊断。视神经脊髓炎谱系障碍(NMOSD)和髓鞘少突胶质细胞糖蛋白-免疫球蛋白G相关疾病(MOGAD)被认为是与MS不同的疾病,具有特定的诊断标准。新的MR成像标记物可以提高这些疾病的诊断特异性。从而降低误诊的风险。这项研究总结了有关MR成像在MS诊断中的应用的最新更新。NMOSD,和MOGAD。
    The diagnostic workup of multiple sclerosis (MS) has evolved considerably. The 2017 revision of the McDonald criteria shows high sensitivity and accuracy in predicting clinically definite MS in patients with a typical clinically isolated syndrome and allows an earlier MS diagnosis. Neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein-immunoglobulin G-associated disease (MOGAD) are recognized as separate conditions from MS, with specific diagnostic criteria. New MR imaging markers may improve diagnostic specificity for these conditions, thus reducing the risk of misdiagnosis. This study summarizes the most recent updates regarding the application of MR imaging for the diagnosis of MS, NMOSD, and MOGAD.
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  • 文章类型: Journal Article
    背景:关于由Cutibacteriumspp引起的感染性心内膜炎(IE)的信息。是有限的,新的Duke-ISCVID标准尚未得到适当评估。我们检查了临床特征,瓣膜和心脏可植入电子设备相关IE(CIED-IE)诊断试验的结果和性能.
    方法:在包括46家西班牙医院的前瞻性国家队列中,对2008年至2023年记录的所有IECutbacterium发作的数据进行了检查。使用新标准重新评估了可能的IE病例。血培养的敏感性,瓣膜和CIED培养物,和16SrRNA基因的PCR和测序(16SPCR)进行评估。
    结果:有67/6,692(1%)由镰刀菌引起的IE发作。,85%影响男性。其中,50个与瓣膜相关(45个假体,5个原生)和17CIED相关。新标准确定了8个额外的病例,并将15个病例重新分类为明确的IE。心内并发症(脓肿,假性动脉瘤,穿孔或心内瘘)发生在23/50(46%)瓣膜IE发作中,导致18%的死亡率,和高达40%的死亡率,如果手术是指征,但不能进行。AllCIED-IE病例接受了设备移除,没有死亡记录。血培养阳性诊断率,瓣膜/装置培养和16SPCR为52%,70%和82%,分别。
    结论:尖端细菌IE是一种罕见但可能危及生命的疾病,值得高度怀疑使用血管内修复材料的男性。新的Duke-ISCVID标准和分子技术对其诊断很有用。考虑到显著的并发症发生率,心脏手术和CIED的切除在降低死亡率方面发挥着关键作用.
    BACKGROUND: Information on infective endocarditis (IE) caused by Cutibacterium spp. is limited and new Duke-ISCVID criteria have not yet been properly assessed. We examined clinical characteristics, outcomes and performance of diagnostic tests for Cutibacterium valvular and cardiac implantable electronic device-related IE (CIED-IE).
    METHODS: Data corresponding to all episodes of Cutibacterium IE recorded from 2008 to 2023 in a prospective national cohort including 46 Spanish hospitals were examined. Possible IE cases were reassessed using the new criteria. The sensitivity of blood cultures, valvular and CIED cultures, and PCR of the 16SrRNA gene and sequencing (16SPCR) was evaluated.
    RESULTS: There were 67/6,692 (1%) episodes of IE caused by Cutibacterium spp., 85% affecting men. Of these, 50 were valve-related (45 prosthetic, 5 native) and 17 CIED-related. The new criteria identified 8 additional cases and reclassified 15 as definite IE. Intracardiac complications (abscess, pseudoaneurysm, perforation or intracardiac fistula) occurred in 23/50 (46%) valvular IE episodes, leading to 18% mortality, and up to 40% mortality if surgery was indicated but could not be performed. All CIED-IE cases underwent device removal and no deaths were recorded. Positive diagnosis rates for blood cultures, valve/device cultures and 16SPCR were 52%, 70% and 82%, respectively.
    CONCLUSIONS: Cutibacterium IE is a rare yet potentially life-threatening condition that warrants a high index of suspicion in men with endovascular prosthetic material. The new Duke-ISCVID criteria and molecular techniques are useful for its diagnosis. Considering a significant complication rate, cardiac surgery and removal of CIEDs play a key role in reducing mortality.
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  • 文章类型: Case Reports
    风湿性心脏病是一种可预防的疾病。患者可能没有典型的喉咙痛和多关节炎病史,但可能有Sydenham舞蹈症。我们不应该完全依靠临床发现来排除心脏炎。应进行超声心动图检查以排除亚临床性心脏炎。
    Sydenham\的舞蹈病是风湿热的主要表现。它主要发生在儿童中,在20岁以后很少见。我们描述了一个16岁的女孩,她的上肢和下肢无目的的不自主运动。实验室血液报告显示红细胞沉降率和抗链球菌溶血素O.2D多普勒超声心动图证实了亚临床性心脏病,二尖瓣和主动脉瓣增厚伴轻度二尖瓣反流。她因急性风湿热而口服苯氧甲基青霉素和卡马西平。在最近的随访采访护理人员时,病人没有后遗症。早期诊断是预防急性风湿热和风湿性心脏病晚期后果的关键。Sydenham舞蹈症是急性风湿热的罕见表现。没有临床心脏炎不排除心脏炎。
    UNASSIGNED: Rheumatic heart disease is a preventable disease. Patients may not present with a typical history of sore throat and polyarthritis but may present with Sydenham\'s chorea. We should not rely completely on clinical findings to rule out carditis. Echocardiography should be done to rule out subclinical carditis.
    UNASSIGNED: Sydenham\'s chorea is a major manifestation of rheumatic fever. It occurs primarily in children and is seen rarely after the age of 20 years. We describe a 16-year-old girl who presented with purposeless involuntary movements of her upper and lower limbs. Laboratory blood reports showed raised erythrocyte sedimentation rate and anti-streptolysin O. 2D Doppler Echocardiography confirmed subclinical carditis, thickened mitral and aortic valve with mild mitral regurgitation. She was managed as Acute Rheumatic Fever with oral Phenoxymethyl penicillin and Carbamazepine. At the latest follow-up interviewing the caregiver, the patient had no sequelae. Early diagnosis is key to preventing late consequences of acute rheumatic fever and rheumatic heart disease. Sydenham\'s chorea is a rare presentation of acute rheumatic fever. The absence of clinical carditis does not rule out carditis.
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  • 文章类型: Journal Article
    NF2相关神经鞘瘤病(NF2;以前称为2型神经纤维瘤病)是一种肿瘤易感疾病,其特征是发展为多发性神经鞘瘤和脑膜瘤。NF2的诊断标准已定期修订。NF2的临床标准最初是在1987年的美国国立卫生研究院共识会议上制定的,并于1990年进行了修订。曼彻斯特小组在1992年和国家神经纤维瘤病基金会(NNFF)在1997年也提出了修订标准。2011年Baser标准提高了诊断标准的敏感性,特别是对于没有双侧前庭神经鞘瘤的患者。对曼彻斯特标准的修订于2019年发布,用室管膜瘤代替了“神经胶质瘤”,“去除”神经纤维瘤,“前庭神经鞘瘤的年龄限制为70岁,和分子标准的介绍,这导致了最广泛使用的标准。2022年,国际NF专家委员会对标准进行了审查和更新。除了诊断标准的变化,委员会建议使用"神经鞘瘤病"作为神经鞘瘤易感疾病的总称.每种类型的神经鞘瘤病都根据包含致病致病变体的基因进行分类。NF2患者的分子数据进一步阐明了NF2镶嵌表型的诊断标准。鉴于所有这些变化,NF2的诊断标准可能令人困惑.在这里,帮助在临床环境中诊断NF2状况的医疗保健专业人员,我们回顾了诊断标准的历史发展。
    NF2-related schwannomatosis (NF2; previously termed neurofibromatosis type 2) is a tumor-prone disorder characterized by development of multiple schwannomas and meningiomas. The diagnostic criteria of NF2 have been regularly revised. Clinical criteria for NF2 were first formulated at the National Institutes of Health Consensus Conference in 1987 and revised in 1990. Revised criteria were also proposed by the Manchester group in 1992 and by the National Neurofibromatosis Foundation (NNFF) in 1997. The 2011 Baser criteria improved the sensitivity of diagnostic criteria, particularly for patients without bilateral vestibular schwannomas. Revisions to the Manchester criteria were published in 2019, with replacement of \"glioma\" by \"ependymoma,\" removal of \"neurofibroma,\" addition of an age limit of 70 years for development of vestibular schwannomas, and introduction of molecular criteria, which led to the most widely used criteria. In 2022, the criteria were reviewed and updated by the international committee of NF experts. In addition to changes in diagnostic criteria, the committee recommended the use of \"schwannomatosis\" as an umbrella term for conditions that predispose to schwannomas. Each type of schwannomatosis was classified by the gene containing the disease-causing pathogenic variant. Molecular data from NF2 patients led to further clarification of the diagnostic criteria for NF2 mosaic phenotypes. Given all these changes, the diagnostic criteria of NF2 may be confusing. Herein, to help healthcare professionals who diagnose NF2 conditions in the clinical setting, we review the historical development of diagnostic criteria.
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