儿童塑型性支气管炎研究进展

塑型性支气管炎(plastic bronchitis, PB)是一种涉及多系统的临床综合征, 可引起儿童严重的呼吸窘迫, 本病国内多见于感染相关性疾病, 其临床表现多种多样、病情轻重不一, 诊断依赖于咳出或支气管镜下取出内生性异物, 目前治疗尚无统一标准, 主要包括支气管镜介入及控制原发病, 其预后主要取决于原发疾病的严重程度及治疗是否及时有效。     

眼球穿通伤137例报告

本文报道我院眼科治疗眼球穿通伤137例138眼,其中角膜穿通伤90例,巩膜穿通伤25例,角、巩膜穿通伤23例。男女之比约为2：1,学龄前儿童及青少年占75．2％,失明者占18．1％,因爆炸伤致盲者高达46．2％,临床统计表明,眼球穿通伤尤其是眼球后段的穿通伤对视功能的损害十分严重。简要说明了眼球穿通伤和一些并发症的常规处理。详细讨论了眼球穿通伤的现代治疗思路。     

髓室底穿通与根管旁穿的治疗体会

探讨髓室底穿通与根管旁穿的治疗措施。方法回顾分析62例患者的临床资料。结果62个不同牙位髓室底穿通或根管侧穿患牙经过治疗后，痊愈率为65％，总有效率达82％。结论充填材料要具有流动性、快速凝固、潮湿环境中凝固及一定的抗压强度，牙本质光固化树脂的操作性和潮湿环境中固结性较好，硫酸钙和冻干脱矿骨的生物相容性好，可降解并可诱导或引导骨再生，将其垫于穿孔下层，在其上充填机械性能好的材料，利用了垫底材料的生物活性，又利用其他材料的机械性能。     

角膜软镜治疗角膜穿通伤17例

目的针对单纯性角膜穿通伤采用角膜软镜治疗,探讨一种操作简单易行减少角膜癜痕形成的治疗方法。方法我院在"5.12"汶川大地震发生后,收治17例单纯性角膜穿通伤,不作角膜伤口缝合采用角膜软镜治疗。结果角膜穿通伤全部愈合,无角膜白斑形成,且均只留下线条状云翳或斑翳。结论角膜软镜治疗角膜穿通伤,可减少角膜瘢痕形成,疗效确切,操作简单易行。     

眼球穿通伤原因分析及预防

目的探讨眼球穿通伤的致盲原因及预防措施。方法临床分析103例眼球穿通伤的原因、性别差异、年龄分布及治疗方案。结果临床患者中男性占93．2％,锐器损伤占48％,小儿损伤多为玩耍或打架造成,青壮年多为工作失误引起,治疗措施主要为手术。结论眼球穿通伤多为可预防的损伤,加强对儿童监护以及严格执行劳动保护制度,是减少眼球穿通伤的重要措施。     

碘仿糊剂治疗下颌乳磨牙龋源性髓室底穿通的探讨

目的探讨下颌乳磨牙龋源性髓室底穿通保存治疗至替牙期方法。同时清除髓室穿通处腐质,碘仿糊剂根管充填一次法并覆盖髓室底穿通处,合树脂修复牙体。结果惠牙36颗经保存治疗,随访一年,成功率91．67％。者经过保存治疗惠牙能恢复正常咬合关系至替牙期。方法采用降低咬合,去龋制洞,在预备根管氧化锌丁香油粘固剂（ZOB）试填2周后,复结论下颌乳磨牙龋源性髓室底穿通儿童患者经过保存治疗惠牙能恢复正常咬合关系至替牙期。     

脑穿通畸形2例报告

脑穿通畸形是由于胚胎发育异常或母体营养障碍造成的先天发育不良或后天外伤、炎症、循环障碍、出血、变性等原因所致脑组织缺损,在大脑半球内形成与脑室或蛛网膜下腔相通或两者均相通的囊腔,称为脑穿通畸形,本病实属罕见,国内很少报导,现将本院收治2例介绍如下。     

32例下颌第二乳磨牙龋源性髓室底穿通的疗效观察

目的 观察下颌第二乳磨牙龋源性髓室底根分叉穿通的保存治疗临床效果.方法 选择龋源性髓室底穿通的下颌第二乳磨牙32例,使用Vitapex糊剂和玻璃离子水门汀修补穿通处并完成根管充填和牙冠的修复.结果 经过2年的随访观察疗效,成功28例,占87.5％,失败4例,占12.5％.结论 采用Vitapex糊剂和玻璃离子水门汀治疗乳磨牙髓室底穿通使下颌第二乳磨牙得以保存,有利于儿童正常行使咀嚼功能,避免乳牙早失而影响恒牙的正常萌出.     

108例牙位髓室底穿通或根管侧穿患者的治疗体会

目的探讨髓室底穿通及根管旁穿的临床治疗方法。方法对2013年1月至10月我院收治的108例牙位髓室底穿通或根管侧穿患者为研究对象,对其临床资料进行回顾性分析。结果 108例患者的患牙经临床治疗以后总痊愈率达60.2%,总有效率为91.7%。结论应该高度重视髓室底穿通与根管旁穿的临床治疗,一旦发现穿孔要采用有效治疗措施,科学选择生物性良好的充填材料,尽量保留患牙。     

眼球穿通伤60例治疗体会

目的探讨眼球穿通伤的治疗时机及治疗方法.方法采用回顾性分析的方法对广东省揭阳市揭东县新亨中心卫生院近几年来收治的60例眼球穿通伤患者的治疗进行总结。结果65眼中挽救眼球62眼,3眼破坏严重行眼内容摘除,到目前为止,无一例发生交感性眼炎,治疗后大部分获得有用视力,在出院后3～6个月随访中,眼球萎缩2眼,有较大角膜白斑3眼,经治疗提高视力49眼75.38％。结论眼球穿通伤后及时正确的处理能修复眼球,使穿孔破裂的眼球恢复外形并提高视力减少盲眼的发生。     

中国罕见病药物研发政策及研发现状简析

罕见病发病率低、病情复杂、诊断难度大，导致其治疗药物研发面临诸多困难。为满足临床迫切需求，鼓励罕见病药物研发，近年来国家出台一系列政策及技术指导原则。梳理了2015年至今的罕见病治疗药物研发激励政策，通过查阅文献及公开资料，整理2018—2023年批准上市的用于治疗第一批罕见病目录中罕见病治疗的药物信息，分析中国罕见病药物研发现状。建议定期更新罕见病目录，加强罕见病药物研发者权益保护，鼓励优质罕见病药物仿制，以推动罕见病药物研发产业创新发展、满足罕见病患者的用药需求。     

发达国家及地区罕见病／罕用药界定策略分析

目的：通过广泛研究发达国家及地区罕见病／罕用药政策,为我国相关政策制定提供参考。方法：应用文献研究法对发达国家及地区罕见病政策进行检索,发达国家及地区的筛选标准为联合国开发计划署发布的人文发展指数。结果和结论：多数发达国家及地区对罕见病制定了专门政策,各国罕见病界定策略大体分成三类：依照患病人数确定;依照发病率确定;无定量界定,接受民间自发呈报罕见病。罕见病／罕用药制定过程需综合考虑其自身社会发展程度、军用药可及性、人口因素。人口较多的国家倾向采用患病人数作为定量标准界定罕见病,建议我国适当借鉴并采纳。     

Incentives for Starting Small Companies Focused on Rare and Neglected Diseases

Starting biotech or pharmaceutical companies is traditionally thought to be based around a scientist, their technology platform or a clinical candidate spun out from another company. Between us we have taken a different approach and formed two small early stage companies after initially leveraging the perspective of a parent with a child with a life-threatening rare disease. Phoenix Nest (http://www.phoenixnestbiotech.com/) was co-founded to work on treatments for Sanfilippo syndrome a devastating neurodegenerative lysosomal storage disorder. In the space of just over 3 years we have built up collaborations with leading scientists in academia and industry and been awarded multiple NIH small business grants. The second company, Collaborations Pharmaceuticals Inc. (http://www.collaborationspharma.com/) was founded to address some of the other 7000 or so rare diseases as well as neglected infectious diseases. The Rare Pediatric Disease Priority Review Voucher is likely the most important incentive for companies working on rare diseases with very small populations. This may also be partially responsible for the recent acquisitions of rare disease companies with late stage candidates. Lessons learned in the process of starting our companies are that rare disease parents or patients can readily partner with a scientist and fund research through NIH grants rather than venture capital or angel investors initially. This process may be slow so patience and perseverance is key. We would encourage other pharmaceutical scientists to meet rare disease parents, patients or advocates and work with them to further the science on their diseases and create a source of future drugs.     

建立中国罕见病医疗保障体系的几点探讨

罕见病又名“孤儿病”,是指那些发病率极低的疾病.根据世界卫生组织（WHO）的定义,罕见病为患病人数占总人口的0.65‰～ 1‰的疾病[1].世界各国根据自己国家的具体情况设定罕见病的认定标准.例如,美国将军见病定义为每年患病人数少于20万人（或发病人口比例小于1/1500）的疾病;日本将罕见病定义为患病人数少于5万人（或发病人口比例为1/2500）的疾病;中国台湾则以万分之一以下的发病率作为罕见病的标准;澳大利亚的定义是患病人数少于2000人（或发病人口比例为1/1000）的疾病;欧盟的罕见病定义是患病率低于0.5‰的疾病[2-4].而我国对于罕见病尚无官方的权威定义.虽然针对单一病种,罕见病患者的数量非常稀少,但由于罕见病的种类极其庞杂,导致罕见病患者的总体数量非常巨大,这些患者的医疗保障权益应该得到维护.定义罕见病、建立罕见病数据登记制度和构建罕见病医疗保障体系都是确实可行的推动策略.     

国外罕见病法律和保障体系与我国现状的对比分析

目的：为建立我国罕见病患者医药保障体系提供建议。方法：通过研究国外罕见病药物（孤儿药）研发政策和罕见病患者医药保障法律,找到我国与其他国家罕见病诊治和保障体系之间的差距和不足,并依照我国国情和医疗现状,提出建立我国罕见病患者保障体系的建议。结果：经过系统数据收集和分析后发现,发达国家和地区都有特定的部门负责制定和执行罕见病法律,罕见病的定义明确,制定了孤儿药研发的鼓励性政策并提供经费支持,罕见病的药物研发取得了极大进展,研发的积极性和研发的速度均得到了很大提高。同时,这些国家和地区的孤儿药支付体系比较健全,建立了国家基金、医疗、社会、商业保险等多重渠道不同比例的报销机制。相对来说,我国罕见病患者生存现状不佳,诊治状况不容乐观,用药不规范、依从性低。造成这些现象的原因包括治疗费用高而报销比例低,未引进相关治疗药物,供药不及时或停止供应,误诊率高等等。结论：建立我国罕见病患者保障体系是一项艰巨的工作,应从3个方面展开：一是明确我国罕见病和罕见病用药的定义、完善罕见病立法;二是将孤儿药,特别是通过药品治疗可以治愈的,以及针对儿童罕见病的药品纳入医疗保险,从而提高孤儿药的可及性;三是建立罕见病诊疗流程,提高罕见病的诊疗水平。     

对我国罕见病用药法规建设的思考及建议

罕见病用药是当前全球临床需求面临的重要问题之一,推动罕见病用药研发是监管方和工业界共同面对的问题。当前我国药品监管机构已出台了诸多政策,在实践中已取得了切实的成果,但我国罕见病药物研发整体起步较晚,在供给侧改革中尚需完善相关制度。本文对当下国内罕见病用药现状以及目前研发注册方面的激励政策进行了总结,结合部分法规中的薄弱环节提出相关建议,为未来我国罕见病用药政策制定提供参考。     

Review article: indication and type of surgery in Crohn's disease

The large majority of patients affected by Crohn's disease require surgery during their clinical history. Radical resection originally advocated for Crohn's disease does not decrease the recurrence rate, and repeated resections predispose patients to the development of short-bowel syndrome. Over the last few years, conservative surgery has become accepted by many authors as a safe means of treating obstructive Crohn's disease. In this review article we analyse the efficacy and safety of conservative techniques, in comparison with resective surgery. Indications, advantages and technical aspects of resective and conservative surgery are reported. The experience with 489 patients treated for complicated or treatment refractory Crohn's disease in our Institution suggests that strictureplasty is a safe and effective procedure in many cases, as reported by other authors. The risk of cancer in areas of active disease as in stenosis treated with strictureplasty seems to be negligible. Resective surgery still represents the 'gold standard' in patients with perforating Crohn's disease; however, conservative surgery, usually contraindicated in perforating Crohn's disease, can be advocated in patients with localized perforating disease presenting an actual risk of short bowel syndrome.     

基于5种罕见病可负担性评价的我国罕见病保障机制研究

目的:为我国建立完善罕见病保障机制提出政策建议,以解决因其所致的"因病致贫、因病返贫"问题。方法:分别通过世界卫生组织/国际健康行动组织(WHO/HAI)标准调查法、灾难性支出评价法和致贫作用评价法3种方法对我国城镇和农村居民多种羧化酶缺乏病、苯丙酮尿症等5种罕见病的可负担性进行分析。结果:按WHO/HAI标准调查法,5种罕见病年治疗费用都很高,费用最低的疾病也相当于城镇居民0.28年的收入,农村居民比城镇居民疾病负担更重;按灾难性支出评价法,5种罕见病在全国范围内造成灾难性支出的人口比例均不超过0.060 6‰,但对部分罕见病,一旦居民患病并采用药物治疗,即陷入灾难性卫生支出;按致贫作用评价法,5种罕见病在城镇、农村的致贫率均很低,但仅这5种罕见病在全国范围内会导致超过20万人陷入贫困。结论:我国罕见病及罕用药的可负担性较差,不同收入水平的居民均有一定的支付困难,因病致贫、因病返贫现象普遍。因此应完善罕见病患者保障机制,建立专门针对罕用药的费用负担方式。     

Quantitative Systems Pharmacology for Rare Disease Drug Development

Though hundreds of drugs have been approved by the US Food and Drug Administration (FDA) for treating various rare diseases, most rare diseases still lack FDA-approved therapeutics. To identify the opportunities for developing therapies for these diseases, the challenges of demonstrating the efficacy and safety of a drug for treating a rare disease are highlighted herein. Quantitative systems pharmacology (QSP) has increasingly been used to inform drug development; our analysis of QSP submissions received by FDA showed that there were 121 submissions as of 2022, for informing rare disease drug development across development phases and therapeutic areas. Examples of published models for inborn errors of metabolism, non-malignant hematological disorders, and hematological malignancies were briefly reviewed to shed light on use of QSP in drug discovery and development for rare diseases. Advances in biomedical research and computational technologies can potentially enable QSP simulation of the natural history of a rare disease in the context of its clinical presentation and genetic heterogeneity. With this function, QSP may be used to conduct in-silico trials to overcome some of the challenges in rare disease drug development. QSP may play an increasingly important role in facilitating development of safe and effective drugs for treating rare diseases with unmet medical needs.     

Kidney denervation combined with elimination of adrenal-renal portal circulation prevents the development of hypertension in spontaneously hypertensive rats

1. Kidney denervation in spontaneously hypertensive rats (SHR) during the prehypertensive stage delays and attenuates the development of hypertension. The same results have been obtained after elimination of the adrenal-renal portal circulation (ARPC). The aim of the present study was to investigate the influence of concomitant kidney denervation and elimination of ARPC on hypertension in SHR. 2. Experiments were performed on 6-week-old male SHR and Wistar-Kyoto (WKY) rats. In the first group of animals (group I), the ARPC was eliminated by removing the left adrenal gland and the right kidney. In the second group of rats (group II), the right kidney and the right adrenal gland were removed and the left kidney was denervated. In the third group of rats (group III), the right adrenal gland and the left kidney were removed and the right kidney was denervated. In the fourth group of rats (group IV), the right adrenal gland and the right kidney were removed. Group IV served as the control group. Denervations were repeated every 3 weeks. Systolic blood pressure was measured indirectly. 3. Elimination of ARPC (group I) and kidney denervation (group II) delayed and attenuated hypertension to the same degree (163 +/- 5 and 157 +/- 4 mmHg, respectively). Application of the these two methods concomitantly (group III) prevented the development of hypertension (130 +/- 6 mmHg). 4. We conclude that both intact efferent sympathetic renal nerves and adrenal hormones reaching the kidney through the ARPC may be mandatory factors for the development of arterial hypertension in SHR.