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《Survey of ophthalmology》2023,68(5):940-956
Congenital aniridia is a panocular disorder that is typically characterized by iris hypoplasia and aniridia-associated keratopathy (AAK). AAK results in the progressive loss of corneal transparency and thereby loss of vision. Currently, there is no approved therapy to delay or prevent its progression, and clinical management is challenging because of phenotypic variability and high risk of complications after interventions; however, new insights into the molecular pathogenesis of AAK may help improve its management. Here, we review the current understanding about the pathogenesis and management of AAK. We highlight the biological mechanisms involved in AAK development with the aim to develop future treatment options, including surgical, pharmacological, cell therapies, and gene therapies. 相似文献
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目的:分析SAA、hs-CRP、IL-6联合检测在儿童感染性疾病中的诊断价值。方法:选择2019年1月~2020年10月某院收治的72例感染性疾病患儿开展研究,根据患儿的病原体检测结果划分为病毒感染组和细菌感染组各36例,另选择同期体检的36名健康儿童作为研究的参照组,分别比较3组的SAA、hs-CRP、IL-6等指标水平的差异。结果:细菌感染组的SAA、hs-CRP、IL-6等指标水平及阳性率均高于病毒感染组、参照组,同时病毒感染组的SAA、hs-CRP、IL-6等指标水平及阳性率高于参照组(P<0.05);SAA、hs-CRP、IL-6联合诊断的敏感度、准确度、阳性预测值、阴性预测值均高于SAA、hs-CRP、IL-6三个指标单独检测的敏感度、准确度、阳性预测值、阴性预测值,差异有统计学意义(P<0.05);联合检测的特异度与单独检测特异度对比无统计学意义(P>0.05)。结论:SAA、hs-CRP、IL-6联合诊断在儿童感染性疾病中具备较高的诊断价值,临床可将SAA、hs-CRP、IL-6作为该病的诊断辅助指标,有效提高疾病的诊断准确性。 相似文献
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目的 分析适量运动对于心房颤动(房颤)患者的运动能力以及远期临床预后的影响。方法 通过检索中国知网,万方,维普,Pubmed,OVID,Cochrane Central Register of Controlled Trials (CENTRAL),web of science数据库,纳入对房颤患者进行适量体育活动干预的临床试验。本研究的主要终点为静息心率,最大心率,6 min步行试验,最大运动功率,全因死亡率以及卒中发生率,用以评估适量运动对房颤患者活动耐力以及预后的影响。结果 本研究共纳入7项试验,2 452例患者,试验组为适量运动干预组,对照组为不活跃组。适量运动并不会显著增加患者的静息心率(MD=-1.68,P=0.70)以及最大心率(RD=9.72,P=0.11)。运动训练可显著提高房颤患者的运动能力,明显增加6 min步行距离(MD=59.07,95%CI=11.70-106.44,P<0.05),并且在一定程度上提高运动功率(MD=17.96,95%CI=-6.30-42.22,P=0.15)。适量运动对房颤患者的远期预后不会造成不良影响,适量运动组对比不活跃组,全因死亡率为15.7% vs 14.2%(RD=0.03,95%CI=-0.18-0.25,P=0.75);卒中发生率5.0% vs 2.9%(RD=0.02,95%CI=-0.06-0.09,P=0.69),两组差异无统计学意义。结论 适量运动可在一定程度上提高房颤患的活动耐力,且不增加卒中以及全因死亡率。 相似文献
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Laurien J. Zeverijn Eleonora J. Looze Subotheni Thavaneswaran J. Maxime van Berge Henegouwen Robert J. Simes Louisa R. Hoes Katrin M. Sjoquist Hanneke van der Wijngaart Lucille Sebastian Birgit S. Geurts Chee K. Lee Gijsbrecht F. de Wit David Espinoza Paul Roepman Frank P. Lin Anne M. L. Jansen Wendy W. J. de Leng Vincent van der Noort Lindsay V. M. Leek Filip Y. F. L. de Vos Carla M. L. van Herpen Hans Gelderblom Henk M. W. Verheul David M. Thomas Emile E. Voest 《International journal of cancer. Journal international du cancer》2023,153(7):1413-1422
The Dutch Drug Rediscovery Protocol (DRUP) and the Australian Cancer Molecular Screening and Therapeutic (MoST) Program are similar nonrandomized, multidrug, pan-cancer trial platforms that aim to identify signals of clinical activity of molecularly matched targeted therapies or immunotherapies outside their approved indications. Here, we report results for advanced or metastatic cancer patients with tumors harboring cyclin D-CDK4/6 pathway alterations treated with CDK4/6 inhibitors palbociclib or ribociclib. We included adult patients that had therapy-refractory solid malignancies with the following alterations: amplifications of CDK4, CDK6, CCND1, CCND2 or CCND3, or complete loss of CDKN2A or SMARCA4. Within MoST, all patients were treated with palbociclib, whereas in DRUP, palbociclib and ribociclib were assigned to different cohorts (defined by tumor type and alteration). The primary endpoint for this combined analysis was clinical benefit, defined as confirmed objective response or stable disease ≥16 weeks. We treated 139 patients with a broad variety of tumor types; 116 with palbociclib and 23 with ribociclib. In 112 evaluable patients, the objective response rate was 0% and clinical benefit rate at 16 weeks was 15%. Median progression-free survival was 4 months (95% CI: 3-5 months), and median overall survival 5 months (95% CI: 4-6 months). In conclusion, only limited clinical activity of palbociclib and ribociclib monotherapy in patients with pretreated cancers harboring cyclin D-CDK4/6 pathway alterations was observed. Our findings indicate that monotherapy use of palbociclib or ribociclib is not recommended and that merging data of two similar precision oncology trials is feasible. 相似文献
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Laura A. Huppert MD Ozge Gumusay MD Dame Idossa MD Hope S. Rugo MD 《CA: a cancer journal for clinicians》2023,73(5):480-515
Hormone receptor (HR)-positive and human epidermal growth factor receptor 2 (HER2)-negative breast cancer is defined by the presence of the estrogen receptor and/or the progesterone receptor and the absence of HER2 gene amplification. HR-positive/HER2-negative breast cancer accounts for 65%–70% of all breast cancers, and incidence increases with increasing age. Treatment varies by stage, and endocrine therapy is the mainstay of treatment in both early stage and late-stage disease. Combinations with cyclin-dependent kinase 4/6 inhibitors have reduced distant recurrence in the early stage setting and improved overall survival in the metastatic setting. Chemotherapy is used based on stage and tumor biology in the early stage setting and after endocrine resistance for advanced disease. New therapies, including novel endocrine agents and antibody-drug conjugates, are now changing the treatment landscape. With the availability of new treatment options, it is important to define the optimal sequence of treatment to maximize clinical benefit while minimizing toxicity. In this review, the authors first discuss the pathologic and molecular features of HR-positive/HER2-negative breast cancer and mechanisms of endocrine resistance. Then, they discuss current and emerging therapies for both early stage and metastatic HR-positive/HER2-negative breast cancer, including treatment algorithms based on current data. 相似文献
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Defects of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein affect the homeostasis of chloride, bicarbonate, sodium, and water in the airway surface liquid, influencing the mucus composition and viscosity, which induces a severe condition of infection and inflammation along the whole life of CF patients. The introduction of CFTR modulators, novel drugs directly intervening to rescue the function of CFTR protein, opens a new era of experimental research. The review summarizes the most recent advancements to understand the characteristics of the infective and inflammatory pathology of CF lungs. 相似文献