全身性遗传疾病对角膜移植排斥的影响

角膜移植为治疗角膜盲的主要手段，而角膜移植排斥则是决定角膜植片存活时间和病人术后视力的关键。角膜得益于其特殊的眼前节“免疫赦免”状态，使得角膜移植能够在众多器官移植中享有极低的排斥率，然而排斥反应发生的风险依然存在。当机体处于遗传物质异常的特殊状态时，宿主将通过宏观调控“免疫赦免”状态对植片的保护作用或受体对移植物排异产生的有害作用，延迟或促进角膜移植排斥反应的发生，进而影响移植物的存活时间和透明度。该文综述与角膜移植排斥相关的多种全身性遗传疾病，总结全身性遗传疾病对角膜移植排斥的影响，浅析其发生的病理生理学机制以及诊疗的特殊性。     

Evaluation of circulating cell free DNA in plasma as a biomarker of different thyroid diseases

IntroductionMany studies have been done on proteomics, genomics, epigenetic, immunogenetics in many body fluids. Among these, circulating cell-free DNA (ccfDNA) entered the literature in 1948, but it has not been studied for many years due to technological deficiencies. Following recent advances, geno-metastasis has been mentioned and new research is needed in this area. ccfDNA is known to be an important biomolecule in this regard.ObjectiveThe presence of cell-free DNA in the circulatory system may offer a tremendous opportunity to provide novel biomarkers for thyroid diseases. This experimental study was conducted to determine the amount of ccfDNA in different thyroid diseases, then to evaluate whether the ccfDNA concentration varied between the disease groups and control group.MethodsIn total, we included 121 individuals in the present study. We collected blood samples and then determined the ccfDNA concentration in plasma of collected blood samples from three groups: thyroiditis (n = 33), benign (n = 37), and malignant (n = 30) and from a control group (n = 21).ResultsThe median values of the ccfDNA groups were found as 1610, 1665, 1685 and 576 ng/mL for the thyroiditis, benign, malign, and control groups, respectively. Findings showed that the ccfDNA of the three groups was significantly higher than the control (p < 0.0001). Each group was compared in terms of ccfDNA and the p-values of benign-thyroiditis, benign-malign, and thyroiditis-malign were 0.09, 0.65, and 0.29, respectively.ConclusionsThe clear differences between thyroid diseases and controls suggest that ccfDNA is worthy of attention as a biomarker for further evaluation of different thyroid diseases. Likewise, it might indicate a clear tendency that ccfDNA can also be used to distinguish different thyroid diseases.     

死亡结构域相关蛋白及其在宫颈病变中的研究进展

宫颈癌对妇女健康构成严重威胁,人乳头瘤病毒感染与宫颈病变及宫颈癌的发生密切相关。关于宫颈癌发生发展的机制仍在研究中。近年研究发现一种多功能核蛋白,即死亡结构域相关蛋白(death domain associated protein,Daxx),其与细胞内蛋白或病毒蛋白相互作用,参与调节细胞凋亡、转录调控、抗病毒等细胞活动,在不同途径中发挥不同的生理或病理作用。通过对Daxx功能及其作用机制的研究有助于进一步阐明宫颈癌发生发展的机制,有助于发现新的预防和治疗方法。综述Daxx的一般特性和研究现况及其在宫颈病变的研究进展。     

Cardiovascular risk assessment tools: A scoping review

ObjectivesThe objective of this review was to describe cardiovascular risk (CVR) assessment methods and to identify evidence-based practice recommendations when dealing with population at risk of developing cardiovascular diseases.Review methods and data sourcesA literature review following the Arksey and O'Malley scoping review methodology was conducted. By using appropriate key terms, literature searches were conducted in PubMed, SciELO, Cochrane Library, Dialnet, ENFISPO, Medigraphic, ScienceDirect, Cuiden, and Lilacs databases. A complementary search on websites related to the area of interest was conducted. Articles published in English or Spanish in peer-review journals between 2010 and 2017. Critical appraisal for methodological quality was conducted. Data was extracted using ad-hoc tables and qualitatively synthesized.ResultsAfter eliminating duplicates, 55 325 records remained, and 1432 records were selected for screening. Out of these, 88 full-text articles were selected for eligibility criteria, and finally, 67 studies were selected for this review, and 25 studies were selected for evidence synthesis. In total, 23 CVR assessment tools have been identified, pioneered by the Framingham study. Qualitative findings were grouped into four thematic areas: assessment tools and scores, CVR indicators, comparative models, and evidence-based recommendations.ConclusionsIt is necessary to adapt the instruments to the epidemiological reality of the population. The most appropriate way to estimate CVR is to choose the assessment tool that best suits individual conditions, accompanied by a comprehensive assessment of the patient. More research is required to determine a single, adequate, and reliable tool.     

妊娠合并右心感染性心内膜炎的临床特征及母婴结局的文献分析

目的探讨妊娠合并右心感染性心内膜炎的临床特征、处理策略和母婴结局,为疾病的诊断和治疗提供理论依据。方法在中国知网、万方数据库、维普网、中国生物医学文献服务系统、PubMed、OVID、EMbase、ScienceDirect数据库检索相关文献,提取临床资料,分析妊娠合并右心感染性心内膜炎的临床表现、危险因素、赘生物位置、血培养结果、治疗策略和母婴结局等。结果纳入15篇文献,共18例患者。患者年龄为(27.7±4.8)岁,发病孕周为(27.8±6.9)周。发热(14例)、咳嗽(12例)、贫血(8例)、气短或呼吸困难(8例)是最常见的症状。心脏听诊时7例可闻及杂音,其中6例为收缩期杂音,1例未明确杂音类型,5例明确心脏听诊无杂音。9例合并肺栓塞和5例合并心力衰竭。危险因素主要为先天性心脏病(10/18)和静脉药瘾史(6/18)。赘生物附着位置以三尖瓣居多(10/18),其次为肺动脉瓣(4/18)。血培养阳性率高(15/16),主要包括葡萄球菌(9/15)及链球菌(3/15)。处理策略上,多以剖宫产适时终止妊娠,针对心内膜炎方面,在应用足量足疗程抗生素的基础上,11例患者行心脏手术,术式主要包括赘生物清除术、瓣膜修复或置换术以及先天性心脏病的手术等,根据患者的孕周、病情和心肺功能等具体情况决定手术在终止妊娠之前、之后或同期进行。18例患者全部存活,新生儿1例死亡(妊娠28周时行剖宫产分娩,因重度窒息死亡)。产妇随访情况基本良好。结论妊娠合并右心感染性心内膜炎临床少见且病情复杂,需及早诊断并实施个体化治疗方案。给予足量足疗程抗生素、选择合适的手术方案以及终止妊娠的时机,对于母婴结局具有重要意义。     

2019 novel coronavirus disease (COVID-19) in Taiwan: Reports of two cases from Wuhan,China

We reported two cases with community-acquired pneumonia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who returned from Wuhan, China in January, 2020. The reported cases highlight non-specific clinical presentations of 2019 novel coronavirus disease (COVID-19) as well as the importance of rapid laboratory-based diagnosis.     

Pseudocystic pilomatricoma: A new variant and review of the literature

A classic pilomatricoma, which usually presents with an asymptomatic, solitary, firm, subcutaneous nodule in the head, neck, or extremities of the paediatric population, is easily diagnosed based on its characteristic clinical and histopathological features. However, its variants often pose particular diagnostic challenges to clinicians due to their rarity and diverse clinicopathological features. We present a new pseudocystic variant, manifesting as solid lesions floating in a fluid‐filled sac.