学术周报 · IF≥10
眼科领域文献阅读汇编
2026年第37周 (2026-09-13) | PubMed (NLM) · DeepSeek 中英双语
数据来源: PubMed E-utilities · 影响因子筛选≥10 · 完整摘要不截断
数据来源: PubMed E-utilities · 影响因子筛选≥10 · 完整摘要不截断
★本周 Top 10 高影响力文献
| # | 论文 | 期刊 | IF |
|---|---|---|---|
| 1 | Adaptive zones of feliforms and evolutionary regimes within terrestrial mammalian carnivores. | Nature ecology & evolution | IF 17.1 |
| 2 | Patient-reported outcome measures after multifocal and extended depth of focus intraocular lens impl... | Progress in retinal and eye research | IF 16.2 |
| 3 | A Dual Hospital-University Specialist Training Reform to Address Workforce Shortage and Geographic M... | JMIR medical education | IF 13.9 |
| 4 | Association of Common Anti-Inflammatory Medications with Reduced Risk of Vision-Threatening Diabetic... | Ophthalmology | IF 10.9 |
| 5 | Review on Intraocular Pressure-Sensing Systems from Fabrication to Applications. | ACS sensors | IF 10.9 |
| 6 | Datopotamab deruxtecan versus chemotherapy in previously treated inoperable/metastatic hormone recep... | ESMO open | IF 10.6 |
| 7 | Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1. | JAMA ophthalmology | IF 10.5 |
| 8 | International consensus guidance for general population screening for islet autoantibodies to diagno... | Diabetologia | IF 10.4 |
Ŧ期刊分布统计
| 期刊 | 篇数 | IF |
|---|---|---|
| Progress in retinal and eye research | 1 | IF 16.2 |
| ESMO open | 1 | IF 10.6 |
| Ophthalmology | 1 | IF 10.9 |
| JAMA ophthalmology | 1 | IF 10.5 |
| Diabetologia | 1 | IF 10.4 |
| Nature ecology & evolution | 1 | IF 17.1 |
| JMIR medical education | 1 | IF 13.9 |
| ACS sensors | 1 | IF 10.9 |
1白内障与屈光手术 (3篇)
临床研究 (2篇)
Presbyopia-correcting intraocular lenses (IOLs) represent a fast-growing segment of ophthalmic surgery. The evaluation of lens performance has undergone a fundamental shift: best-corrected visual acuity alone is an insufficient measure of the clinical benefit of premium IOLs, whose true value lies in spectacle independence, visual quality, and visual function in daily activities. In that regard, patient-reported outcome measures (PROMs) are a cornerstone of presbyopia-correcting IOL assessment. This review provides an overview of the current landscape of IOLs, PROM instruments and their limitations, visual function outcomes across IOL types and comorbidities, and future directions. Higher near performance often comes at the cost of greater dysphotopsia, and no single IOL design dominates across all PROM domains. Optimal IOL selection or combination therefore requires identifying which PROM domain matters most to the individual patient. While not absolute contraindications, dry eye disease and prior refractive surgery are the strongest predictors of suboptimal outcomes and therefore warrant careful preoperative consideration. As visual demands increasingly shift toward near and intermediate distances with growing digital device use, clinicians and manufacturers must align IOL design priorities and patient selection with evolving patient needs. The visual function index (VF)-14 questionnaire and most other vision-specific PROM instruments were developed in a pre-digital era and require modernization to remain valid measures of patient success. In an aging active population, multifocal and extended depth of focus IOLs, when matched to the right patients, represent one of surgery's most impactful quality-of-life interventions.
中文摘要:老视矫正型人工晶状体(IOL)是眼科手术中快速增长的领域。对晶状体性能的评估已发生根本性转变:仅凭最佳矫正视力已不足以衡量高端IOL的临床获益,其真正价值在于脱镜、视觉质量以及日常活动中的视功能。因此,患者报告结局测量(PROMs)是老视矫正型IOL评估的基石。本综述概述了IOL的当前格局、PROM工具及其局限性、不同IOL类型和合并症下的视功能结局以及未来方向。更高的近视力表现往往以更明显的视觉干扰为代价,且没有任何一种IOL设计在所有PROM维度上占优。因此,最佳IOL选择或组合需要确定哪个PROM维度对具体患者最重要。虽然干眼症和既往屈光手术并非绝对禁忌证,但它们是次优结局的最强预测因素,因此需要在术前仔细考虑。随着数字设备使用增加,视觉需求日益转向近距和中距,临床医生和制造商必须使IOL设计优先事项和患者选择与不断变化的患者需求保持一致。视功能指数(VF)-14问卷以及大多数其他视力特异性PROM工具是在前数字时代开发的,需要现代化以继续作为患者成功与否的有效衡量指标。在活跃的老龄人群中,多焦和扩展景深IOL在与合适患者匹配时,是外科领域最具影响力的生活质量干预措施之一。
Indonesia faces 3 interlocking medical workforce crises: an absolute specialist deficit projected to reach 70,000 by 2032 (national density of 0.18 per 1000 population vs the Ministry of National Development Planning [Bappenas] target of 0.28), severe maldistribution (with nearly 59% of specialists concentrated in Java), and a structural anomaly in which residents pay tuition while performing essential clinical work. The 2023 Health Law (Law 17/2023) authorized a transformative reform: a hospital-based residency pathway (Rumah Sakit Pendidikan Penyelenggara Utama [primary teaching hospital; RSPPU]) operating in parallel with the long-established university-based system. This study aimed to examine the rationale, policy design, and early implementation of Indonesia's dual hospital-university specialist medical education reform, interpreted through an 8-step change management framework developed by Kotter, and to identify transferable lessons for low- and middle-income countries. We conducted an integrative qualitative policy process review combining two evidence streams: (1) systematic documentary analysis of 19 source documents (17 primary legal, regulatory, and policy instruments plus 2 interministerial joint monitoring site-visit reports) and (2) engagement of 34 key informants through semistructured interviews and focus group discussions (45-120 min), comprising policymakers, collegium representatives, hospital leaders, and residents across all 6 pilot sites, recruited purposively until thematic saturation. Interview and focus group data were analyzed using a hybrid deductive-inductive thematic approach with an 8-step change management framework developed by Kotter as an a priori coding frame, and member checking was completed with 7 of the 34 informants. The reform designated 6 top-tier national referral hospitals as RSPPUs and enrolled 52 residents from 412 applicants (an acceptance rate of 12.6%) across 6 high-need specialties (ophthalmology, cardiology, pediatrics, orthopedics, neurology, and oncology). All 6 pilot sites established functional education units and designated institutional officials, adopted dual accreditation, and operationalized an integrated e-logbook for competency tracking, real-time monitoring of 80-hour duty limits, and anonymous bullying reporting. An interministerial joint monitoring team visited all 6 sites and scored each site as satisfactory or better across governance, curriculum, faculty, infrastructure, and learner support. Four cross-cutting themes emerged: financial-barrier removal, dual-governance pragmatism, accreditation strain, and equity-anchored deployment. Persistent tensions include variable educator compensation across hospitals; however, a standardized national framework remains under development. Mapping to the framework developed by Kotter demonstrated strong evidence for steps 1 to 6 and early evidence for steps 7 to 8. Indonesia's dual hospital-university residency model is a scalable, equity-oriented, and competency-based reform that is operationally feasible and globally aligned in its early implementation. While long-term effectiveness and sustainability await longitudinal evaluation, the design offers a transferable, not yet definitively replicable, template for low- and middle-income countries confronting parallel workforce crises.
中文摘要:印度尼西亚面临三重相互交织的医疗人力危机:到2032年专科医生绝对缺口预计达70,000人(全国密度为每1000人口0.18名,而国家发展规划部[Bappenas]目标为0.28名)、严重分布不均(近59%的专科医生集中在爪哇),以及一种结构性异常,即住院医师在承担基本临床工作的同时还需缴纳学费。2023年《卫生法》(第17/2023号法律)授权了一项变革性改革:在长期建立的大学培养体系之外,并行运行以医院为基础的住院医师培养路径(Rumah Sakit Pendidikan Penyelenggara Utama[主要教学医院;RSPPU])。本研究旨在考察印度尼西亚医院-大学双轨专科医学教育改革的理由、政策设计与早期实施,以Kotter提出的8步变革管理框架进行解读,并识别可供低中收入国家借鉴的经验。我们开展了一项整合性定性政策过程综述,结合两类证据来源:(1)对19份来源文件(17份主要法律、法规和政策工具,加2份部际联合监测现场访问报告)的系统文献分析;(2)通过半结构式访谈和焦点小组讨论(45-120分钟)接触34名关键知情人,包括所有6个试点点的政策制定者、专科委员会代表、医院领导和住院医师,采用目的性招募直至主题饱和。访谈和焦点小组数据采用演绎-归纳混合主题方法分析,以Kotter提出的8步变革管理框架作为先验编码框架,并对34名知情人中的7人完成成员核查。该改革指定6家顶级国家转诊医院为RSPPU,并在6个高需求专科(眼科、心脏病学、儿科、骨科、神经病学和肿瘤学)中从412名申请者中录取52名住院医师(录取率12.6%)。所有6个试点点均建立了可运作的教育单位和指定的机构负责人,采用双重认证,并启用整合式电子日志用于能力追踪、80小时值班限制的实时监测和匿名欺凌报告。一个部际联合监测团队访问了全部6个试点点,并在治理、课程、师资、基础设施和学习者支持方面将每个站点评为满意或更好。出现了四个跨领域主题:消除经济障碍、双轨治理的务实性、认证压力,以及以公平为导向的部署。持续存在的紧张关系包括不同医院之间教育者薪酬不一;然而,标准化国家框架仍在制定中。映射到Kotter提出的框架显示,第1至6步有强证据,第7至8步有早期证据。印度尼西亚的医院-大学双轨住院医师模式是一项可扩展、面向公平且基于能力的改革,在早期实施中具有操作可行性并与全球趋势一致。虽然长期有效性和可持续性尚待纵向评估,但该设计为面临类似人力危机的低中收入国家提供了一个可转移但尚未能明确复制的模板。
基础研究 (1篇)
Terrestrial carnivores have repeatedly evolved similar ecomorphologies, yet the relationship between dental morphology and diet remains inconsistently predictive and seemingly at odds with this observation. Here we examine the presence of carnivore adaptive zones and this form/function mismatch using a total-evidence phylogeny of living and extinct feliforms, modelling the evolution of body mass and dental toolkit (relative blade length of the lower carnassial). We identify three adaptive zones within feliforms: (1) an ancestral cataract of carnivory, comprising small-bodied, ecologically flexible taxa with largely stochastic dental evolution; (2) the broad ecology cursor, associated with restricted forelimb dexterity and increased reliance on cranial prey processing; and (3) the soft-flesh specialist, defined by strong selection for slicing-dominated dentitions in hypercarnivores. Extending beyond feliforms, we propose a fourth zone, the versatile omnivore, representing a distinct adaptive zone of dietary and morphological flexibility at large size. Across these regimes, dental morphology receives strong selection only in hypercarnivores, resulting in reliable predictions of diet. In contrast, taxa with broader diets show stochastic dental evolution, leading to the frequent misclassification observed in recent studies. This framework reconciles longstanding links between morphology and ecology with their inconsistencies, providing a predictive model for terrestrial carnivore evolution.
中文摘要:陆生食肉动物反复演化出相似的生态形态特征,然而牙齿形态与食性之间的关系在预测上仍不一致,且似乎与这一观察相矛盾。本文利用现生和已灭绝猫型亚目的全证据系统发育,对体重和牙齿工具组合(下裂齿的相对刃长)的演化进行建模,以检验食肉动物适应域的存在以及这种形态与功能不匹配。我们在猫型亚目内识别出三个适应域:(1)食肉性的祖先瀑布,由体型小、生态适应灵活且牙齿演化很大程度上随机的类群组成;(2)广生态巡游者,与受限的前肢灵活性以及更依赖颅骨处理猎物相关;(3)软肉专食者,其特征是超食肉动物中对以切割为主的齿列存在强烈选择。将视野扩展到猫型亚目之外,我们提出第四个适应域,即多面手杂食者,代表大体型下食性与形态灵活性的一个独特适应域。在这些演化体制中,牙齿形态仅在超食肉动物中受到强烈选择,从而能够可靠预测食性。相反,食性较广的类群表现出随机性牙齿演化,导致近期研究中常见的错误分类。该框架调和了形态与生态之间长期存在的联系及其不一致性,为陆生食肉动物演化提供了一个预测模型。
2视网膜疾病 (2篇)
临床研究 (2篇)
To determine whether adults with type 2 diabetes mellitus (T2DM) using cetirizine, ibuprofen, or prednisone have a reduced incidence of diabetic macular edema (DME) and proliferative diabetic retinopathy (PDR). Retrospective propensity score-matched cohort study. Adults with T2DM and documented eye-care in the TriNetX US Collaborative Network who had two documented uses of cetirizine, ibuprofen, prednisone, fenofibrate, or gabapentin between January 1, 2005, and March 1, 2025. Each drug cohort was 1:1 propensity score-matched on 44 covariates against non-users; fenofibrate served as a positive control, and gabapentin served as both a negative control and an active comparator. Residual confounding was assessed using eight ophthalmic negative-control outcomes (NCOs) and E-values. Nine sensitivity analyses tested comparison to users of gabapentin, alternative outcome windows, a new-user design, glycemic strata, matching for drug indication, and exposure duration. Incident DME and PDR within 3 years of the index date. Matched-pair counts ranged from 18,762 to 86,846. Cetirizine was associated with reduced DME (hazard ratio [HR], 0.62; 95% confidence interval [CI], 0.51-0.74) and PDR (HR, 0.59; 95% CI, 0.46-0.77); ibuprofen with reduced DME (HR, 0.63; 95% CI, 0.56-0.69) and PDR (HR, 0.48; 95% CI, 0.41-0.56); and prednisone with reduced DME (HR, 0.46; 95% CI, 0.41-0.52) and PDR (HR, 0.36; 95% CI, 0.30-0.43). Fenofibrate showed associations of similar magnitude (DME HR, 0.57; 95% CI, 0.48-0.68; PDR HR, 0.59; 95% CI, 0.45-0.77); gabapentin showed no association (DME HR, 0.95; 95% CI, 0.88-1.02; PDR HR, 1.04; 95% CI, 0.93-1.15). Point E-values for the investigational drugs ranged from 2.57 to 4.97 (lower 95% CI bound, 1.93 to 4.06). The NCO panel was near null for cetirizine and ibuprofen and showed mild protective bias for prednisone and fenofibrate. Findings persisted across the nine sensitivity analyses. Cetirizine, ibuprofen, and prednisone were associated with reduced incidence of DME and PDR in adults with T2DM, with effect sizes comparable to those of the fenofibrate positive control. These findings support prospective evaluation of anti-inflammatory medications for the prevention of vision-threatening diabetic retinopathy.
中文摘要:旨在确定使用西替利嗪、布洛芬或泼尼松的2型糖尿病(T2DM)成人是否具有较低的糖尿病性黄斑水肿(DME)和增殖性糖尿病视网膜病变(PDR)发生率。回顾性倾向评分匹配队列研究。纳入TriNetX美国协作网络中有眼科诊疗记录、且在2005年1月1日至2025年3月1日期间有两次西替利嗪、布洛芬、泼尼松、非诺贝特或加巴喷丁使用记录的T2DM成人。每个药物队列均按44个协变量与非使用者进行1:1倾向评分匹配;非诺贝特作为阳性对照,加巴喷丁作为阴性对照和活性对照。使用八个眼科阴性对照结局(NCO)和E值评估残余混杂。九项敏感性分析检验了与加巴喷丁使用者的比较、替代结局窗口、新用药者设计、血糖分层、按药物适应证匹配以及暴露持续时间。主要结局为索引日期后3年内新发DME和PDR。匹配对数量范围为18,762至86,846。西替利嗪与DME降低相关(风险比[HR],0.62;95%置信区间[CI],0.51-0.74)和PDR降低相关(HR,0.59;95%CI,0.46-0.77);布洛芬与DME降低相关(HR,0.63;95%CI,0.56-0.69)和PDR降低相关(HR,0.48;95%CI,0.41-0.56);泼尼松与DME降低相关(HR,0.46;95%CI,0.41-0.52)和PDR降低相关(HR,0.36;95%CI,0.30-0.43)。非诺贝特显示出相似幅度的关联(DME HR,0.57;95%CI,0.48-0.68;PDR HR,0.59;95%CI,0.45-0.77);加巴喷丁未显示出关联(DME HR,0.95;95%CI,0.88-1.02;PDR HR,1.04;95%CI,0.93-1.15)。研究药物的点E值范围为2.57至4.97(95%CI下限为1.93至4.06)。NCO组合对西替利嗪和布洛芬接近无效,对泼尼松和非诺贝特显示轻度保护性偏倚。这些发现在九项敏感性分析中均持续存在。西替利嗪、布洛芬和泼尼松与T2DM成人DME和PDR发生率降低相关,其效应量与阳性对照非诺贝特相当。这些发现支持对使用抗炎药物预防威胁视力的糖尿病视网膜病变进行前瞻性评估。
Type 1 diabetes is an autoimmune disease that targets and destroys insulin-producing beta cells in the pancreatic islets. The incidence of type 1 diabetes is rising globally. At the clinical diagnosis of type 1 diabetes, between 20% and 67% of children and adolescents present with diabetic ketoacidosis (DKA) requiring hospitalisation, and one-third of these require intensive care. Type 1 diabetes can be detected in early stages, prior to the insulin-requiring clinical diagnosis, through screening for islet autoantibodies (IAbs). Identifying individuals with early-stage type 1 diabetes, combined with monitoring of and education on disease progression, prevents DKA and results in a milder clinical onset. This allows for timely insulin initiation in outpatient settings and improved long-term glucose management. Early diagnosis also enables access to novel disease-modifying therapies that can delay the clinical onset of diabetes. In this international consensus, we provide guidance on the principles and practice of implementing general population screening for IAbs to diagnose early-stage type 1 diabetes. We also outline the minimum requirements for establishing effective population screening programmes to diagnose early-stage type 1 diabetes through IAb detection. This consensus statement has been endorsed by the following professional associations: Advanced Technologies & Treatments for Diabetes (ATTD); Association of Diabetes Care and Education Specialists (ADCES); Association Belge Du Diabète; Associazione Medici Diabetologi (AMD); Australian Diabetes Society (ADS); Belgian Diabetes Liga; Breakthrough T1D; Czech Diabetes Society (ČDS); EASD; Finnish Diabetes Association (FDS); Fondazione Italiana Diabete (FID); International Diabetes Federation (IDF)-Europe; International Society of Paediatric and Adolescent Diabetes (ISPAD); Paediatric Endocrinology Nursing Society (PENS); Polish Diabetes Society; Portuguese Diabetes Association (APDP); Sociedade Portuguesa de Diabetologia (SPD); Società Italiana di Diabetologia (SID); Société Francophone du Diabète (SFD) and Type 1 Diabetes Exchange (T1D Exchange).
中文摘要:1型糖尿病是一种自身免疫性疾病,会靶向并破坏胰岛中产生胰岛素的β细胞。1型糖尿病的发病率在全球范围内不断上升。在临床诊断1型糖尿病时,20%至67%的儿童和青少年出现需要住院治疗的糖尿病酮症酸中毒(DKA),其中三分之一需要重症监护。通过筛查胰岛自身抗体(IAbs),可在需要胰岛素治疗的临床诊断之前检测到1型糖尿病的早期阶段。识别早期1型糖尿病个体,并结合疾病进展监测和教育,可预防DKA,并使临床起病更轻。这有助于在门诊环境中及时启动胰岛素治疗,并改善长期血糖管理。早期诊断还使患者能够获得可延缓糖尿病临床起病的新型疾病修正疗法。在本国际共识中,我们提供了关于实施普通人群IAbs筛查以诊断早期1型糖尿病的原理和实践指导。我们还概述了建立有效人群筛查项目以通过IAb检测诊断早期1型糖尿病的最低要求。本共识声明已得到以下专业协会认可:Advanced Technologies & Treatments for Diabetes (ATTD);Association of Diabetes Care and Education Specialists (ADCES);Association Belge Du Diabète;Associazione Medici Diabetologi (AMD);Australian Diabetes Society (ADS);Belgian Diabetes Liga;Breakthrough T1D;Czech Diabetes Society (ČDS);EASD;Finnish Diabetes Association (FDS);Fondazione Italiana Diabete (FID);International Diabetes Federation (IDF)-Europe;International Society of Paediatric and Adolescent Diabetes (ISPAD);Paediatric Endocrinology Nursing Society (PENS);Polish Diabetes Society;Portuguese Diabetes Association (APDP);Sociedade Portuguesa de Diabetologia (SPD);Società Italiana di Diabetologia (SID);Société Francophone du Diabète (SFD) 和 Type 1 Diabetes Exchange (T1D Exchange)。
3角膜与眼表疾病 (1篇)
临床研究 (1篇)
In the global phase III TROPION-Breast01 study, datopotamab deruxtecan (Dato-DXd) demonstrated a statistically significant and clinically meaningful improvement in progression-free survival (PFS) by blinded independent central review (BICR) versus investigator's choice of chemotherapy (ICC) in patients with previously treated, inoperable/metastatic hormone receptor(HR)-positive human epidermal growth factor receptor 2-negative (HR+/HER2-) breast cancer. At the final analysis, overall survival (OS) was not statistically significant. We report final results from the prespecified analysis of patients enrolled in mainland China. Patients with inoperable/metastatic HR+/HER2- breast cancer, who had disease progression on endocrine therapy and for whom endocrine therapy was unsuitable and who had received 1-2 prior lines of chemotherapy in the inoperable/metastatic setting, were randomly assigned 1 : 1 to Dato-DXd (6 mg/kg every 3 weeks) or ICC (eribulin/capecitabine/vinorelbine/gemcitabine). Dual primary endpoints were PFS by BICR and OS. Overall, 83 patients were enrolled in mainland China (Dato-DXd, n = 44; ICC, n = 39). PFS by BICR numerically favored Dato-DXd versus ICC [hazard ratio (HR) 0.54, 95% confidence interval (CI) 0.30-0.96, nominal P = 0.0329; median PFS: 8.1 versus 4.2 months]. OS numerically favored Dato-DXd versus ICC [HR 0.83 (95% CI 0.49-1.43), nominal P = 0.5028]. The rate of grade ≥3 treatment-related adverse events (TRAEs) was lower with Dato-DXd versus ICC (29.5% versus 58.3%). The most common TRAEs (any grade/grade 3-4) were nausea (47.7%/4.5%) and increased aspartate aminotransferase (40.9%/2.3%) with Dato-DXd, and neutropenia (grouped term, 58.3%/36.1%) and anemia (52.8%/8.3%) with ICC. With Dato-DXd, treatment-related AEs of special interest (grouped terms) oral mucositis/stomatitis and ocular surface events occurred in 43.2% and 47.7% of patients, respectively. In this China cohort, Dato-DXd demonstrated numerically improved efficacy versus ICC and a manageable safety profile, consistent with the global population, supporting Dato-DXd as a new treatment option for Chinese patients with previously treated metastatic HR+/HER2- breast cancer.
中文摘要:在全球III期TROPION-Breast01研究中,datopotamab deruxtecan(Dato-DXd)在经治的不可手术/转移性激素受体(HR)阳性、人表皮生长因子受体2(HER2)阴性(HR+/HER2-)乳腺癌患者中,相比研究者选择的化疗(ICC),在盲态独立中心审查(BICR)评估的无进展生存期(PFS)方面显示出具有统计学显著性和临床意义的改善。最终分析时,总生存期(OS)未达到统计学显著性。我们报告在中国大陆入组患者预设分析的最终结果。不可手术/转移性HR+/HER2-乳腺癌患者,既往内分泌治疗期间出现疾病进展且不适合内分泌治疗,并且在不可手术/转移性阶段接受过1-2线化疗,按1:1随机分配至Dato-DXd(每3周6 mg/kg)或ICC(艾立布林/卡培他滨/长春瑞滨/吉西他滨)。双主要终点为BICR评估的PFS和OS。总体上,中国大陆共入组83例患者(Dato-DXd组,n=44;ICC组,n=39)。BICR评估的PFS在数值上支持Dato-DXd优于ICC[风险比(HR)0.54,95%置信区间(CI)0.30-0.96,名义P=0.0329;中位PFS:8.1个月对4.2个月]。OS在数值上支持Dato-DXd优于ICC[HR 0.83(95% CI 0.49-1.43),名义P=0.5028]。Dato-DXd组≥3级治疗相关不良事件(TRAE)发生率低于ICC组(29.5%对58.3%)。Dato-DXd组最常见的TRAE(任何级别/3-4级)为恶心(47.7%/4.5%)和天冬氨酸氨基转移酶升高(40.9%/2.3%),ICC组为中性粒细胞减少症(分组术语,58.3%/36.1%)和贫血(52.8%/8.3%)。接受Dato-DXd治疗的患者中,特别关注的治疗相关不良事件(分组术语)口腔黏膜炎/口腔炎和眼表事件的发生率分别为43.2%和47.7%。在该中国队列中,Dato-DXd相比ICC显示出数值上改善的疗效和可管理的安全性特征,与全球人群一致,支持Dato-DXd作为中国经治转移性HR+/HER2-乳腺癌患者的新治疗选择。
4影像与人工智能 (1篇)
临床研究 (1篇)
Doyne honeycomb retinal dystrophy or malattia leventinese (DHRD/ML) is an autosomal dominant retinal disorder caused by a single recurrent p.Arg345Trp (NM_001039348.3:c.1033C>T) variant in EFEMP1 and characterized by early-onset, nearly confluent, large central retinal drusen. Other variants in EFEMP1 have not been reported to cause retinal disease. To define the topography of the anatomical and functional phenotype of another variant in EFEMP1, p.Arg140Trp (c.418C>T), associated with retinal degeneration. This multi-institutional case series was conducted at 3 inherited retinal disease clinics (Philadelphia, Pennsylvania; Basel, Switzerland; and Prague, Czech Republic) from October 1998 to May 2026. Participants included 3 unrelated families with the p.Arg140Trp variant and 1 comparator family with canonical DHRD/ML caused by the p.Arg345Trp variant. Analyses were conducted from November 2019 to May 2026. Heterozygosity for pathogenic EFEMP1 variants. Color fundus photography and optical coherence tomography, light- and dark-adapted chromatic perimetry, and rod-mediated dark adaptation kinetics. The EFEMP1 p.Arg140Trp variant segregated with disease in all 3 families. In family 1, the index case developed nyctalopia in the sixth decade with progressive field loss and abnormal ERG. Among 5 at-risk relatives (ages 50 to 58 years), 4 heterozygous carriers had delayed rod-mediated dark adaptation kinetics despite best-corrected visual acuity of 20/20 OU and normal fundus appearance; the noncarrier had normal imaging and function. Additional heterozygous carriers from families 2 (age 42 years; symptom onset at 40 years) and 3 (age 69 years; symptom onset at 55 years) had nyctalopia and peripheral lobular chorioretinal atrophy initially labeled gyrate atrophy-like or choroideremia-like. Topographically matched testing in temporal retina without visible atrophy showed severe rod dysfunction and markedly delayed dark adaptation at 15°, 30°, and 46° with increasing severity toward the periphery. For comparison, the patient with DHRD/ML exhibited normal light- and dark-adapted visual function outside the central 10° and an increasing delay in rod recovery kinetics toward the fovea. This study found that the EFEMP1 p.Arg140Trp variant was associated with a late-onset, predominantly peripheral retinal degeneration with features overlapping the late-onset retinal degeneration phenotype and was distinct from canonical DHRD/ML; it spares relatively central macular structure and function while preferentially affecting the periphery. Functional evidence suggests preferential rod involvement, with rod dysfunction observed at retinal loci without detectable outer nuclear layer loss.
中文摘要:Doyne蜂窝状视网膜营养不良或Leventinese病(DHRD/ML)是一种由EFEMP1中单个复发性p.Arg345Trp(NM_001039348.3:c.1033C>T)变异引起的常染色体显性视网膜疾病,其特征为早发、几乎融合的大片中央视网膜玻璃膜疣。EFEMP1的其他变异尚未被报道可引起视网膜疾病。为明确EFEMP1中另一种与视网膜变性相关的变异p.Arg140Trp(c.418C>T)在解剖和功能表型上的分布,本多机构病例系列研究于1998年10月至2026年5月在3个遗传性视网膜疾病诊所(美国宾夕法尼亚州费城、瑞士巴塞尔和捷克共和国布拉格)开展。参与者包括3个携带p.Arg140Trp变异的无亲缘关系家系,以及1个由经典p.Arg345Trp变异所致DHRD/ML的比较家系。分析于2019年11月至2026年5月进行。暴露为EFEMP1致病变异的杂合状态。检查包括彩色眼底照相和光学相干断层扫描、明适应和暗适应色觉视野检查,以及杆细胞介导的暗适应动力学。EFEMP1 p.Arg140Trp变异在所有3个家系中均与疾病共分离。家系1中,先证者在60岁左右出现夜盲,伴进行性视野缺损和ERG异常。在5名有风险的亲属(年龄50至58岁)中,4名杂合携带者尽管双眼最佳矫正视力为20/20且眼底外观正常,仍存在杆细胞介导的暗适应动力学延迟;非携带者的影像和功能正常。来自家系2(42岁;症状40岁出现)和家系3(69岁;症状55岁出现)的其他杂合携带者存在夜盲和周边分叶状脉络膜视网膜萎缩,最初被标记为回旋状萎缩样或无脉络膜症样。在无可见萎缩的颞侧视网膜进行拓扑匹配测试显示,在15°、30°和46°处存在严重杆细胞功能障碍和显著延迟的暗适应,且越向周边越严重。作为比较,DHRD/ML患者中央10°以外的明适应和暗适应视觉功能正常,且杆细胞恢复动力学延迟向黄斑中心凹方向加重。本研究发现,EFEMP1 p.Arg140Trp变异与迟发性、主要累及周边的视网膜变性相关,其特征与迟发性视网膜变性表型有重叠,且不同于经典DHRD/ML;它相对保留中央黄斑结构和功能,而优先影响周边。功能证据提示杆细胞优先受累,在未检测到外核层丢失的视网膜位点也观察到杆细胞功能障碍。
5青光眼 (1篇)
基础研究 (1篇)
Intraocular pressure (IOP) is amenable to direct regulation and a critical indicator for numerous ocular disorders. Continuous, long-term IOP monitoring provides indispensable clinical data, supporting early diagnosis, risk stratification, and personalized treatment. This review comprehensively summarizes the working principles, key performance metrics, and clinical progress of wearable and implantable IOP sensors. The text elucidates the structural integration of wireless power supplies, signal transmission, and artificial intelligence within wireless IOP monitoring systems. Furthermore, manufacturing and optimization strategies are highlighted, and the considerable advantages of nanomaterials and micro/nanostructures are comprehensively summarized, emphasizing their crucial role in current IOP monitoring devices. Additionally, the diverse applications of IOP sensors in disease diagnosis and therapeutic management are discussed, underscoring their potential for personalized and precision medicine, alongside the challenges remaining in their clinical translation. Finally, current bottlenecks and limitations are addressed, outlining potential solutions, future trends, and potential breakthroughs in next-generation IOP monitoring.
中文摘要:眼内压(IOP)可直接调控,并且是众多眼部疾病的重要指标。连续、长期的IOP监测可提供不可或缺的临床数据,支持早期诊断、风险分层和个性化治疗。本综述全面总结了可穿戴和可植入IOP传感器的工作原理、关键性能指标及临床进展。文中阐明了无线IOP监测系统中无线供电、信号传输和人工智能的结构集成。此外,重点介绍了制造与优化策略,并全面总结了纳米材料和微/纳米结构的显著优势,强调其在当前IOP监测设备中的关键作用。同时,讨论了IOP传感器在疾病诊断和治疗管理中的多样化应用,突出其在个性化与精准医学中的潜力,以及其临床转化仍面临的挑战。最后,阐述了当前瓶颈与局限,概述了潜在解决方案、未来趋势以及下一代IOP监测的可能突破。