中西医一体化防治增生性瘢痕的研究现状

皮肤瘢痕是一个巨大的医学问题,每年约有1亿患者产生瘢痕。瘢痕的预防/治疗在很大程度上还没有得到满足的临床需求。瘢痕的形成通常是皮肤创伤的病理结果。而增生性瘢痕(hypertrophic scar,HTS)常发生在人深部损伤后。HTS通常被认为是组织收缩和过度的细胞外基质沉积的结果。肌成纤维细胞作为主要由成纤维细胞分化而来的效应细胞,在HTS的病理生理中起着至关重要的作用。多种生长因子、炎症因子参与了HTS发生的过程。目前,随着对HTS的深入探索和临床研究,各种创造性和有效的治疗方法正在萌芽。本文就HTS中西医形成机制研究进展进行综述,并针对其病理生理特点,对现有的中西医综合治疗方法进行综述。此外,我们进一步展望更适合的HTS中西医综合治疗的特色与方法。     

The personal limitations checklist: human factors insights from air accidents to reduce intraoperative harm

High Reliability Organisations (HRO), including healthcare and aviation, have a common focus on risk management. The human element is a ‘weak link’ which may result in accidents or adverse events taking place. Surgeons and other healthcare professionals can learn from aviation's rigorous approach to the role of human factors (HF) in such events, and how we can minimise them. Air Accident Investigation Branch (AAIB) reports show that fatal accidents are frequently caused by pilots flying outside their own personal limits, those of the aircraft or environment. Similarly, patient morbidity or mortality may occur if surgeons work outside personal their capability, with poor procedure selection and patient optimisation, or with a team or theatre environment not suited to the procedure. We introduce the personal limitations checklist – a tool adapted from aviation that allows surgeons to define their limits in advance of any decision to operate, and develop critical self-reflection. It also allows management of patient expectations, shared decision making, and flattening of team hierarchy. The minimum skills, patient characteristics, team and theatre resources for any given procedure to proceed are defined. If the surgeon is ‘out of limits’, redressing these factors, seeking additional assistance, or thorough patient consenting may be required for the safe conduct of the procedure. We explore external pressures that could cause a surgeon to exceed both personal and organisational limits.     

Primary vaccination in adult patients after allogeneic hematopoietic stem cell transplantation – A single center retrospective efficacy analysis

Allogeneic hematopoietic stem cell transplantation (alloHSCT) results in a loss of humoral immunity and subsequent risk for severe infections. Thus, re-vaccination is required but may fail due to incomplete immune reconstitution. We retrospectively analyzed predictors of immune response to primary vaccination applied according to the EBMT (European Blood and Marrow Transplantation Group) recommendations. Serologic response to vaccination against diphtheria (D), tetanus (T), Bordetella pertussis (aP) and Haemophilus influenzae (Hib) (administrated as combined DTaP-Hib-IPV vaccination) was studied in 84 alloHSCT patients transplanted between 2008 and 2015 (age at alloHSCT: 18.6–70.6 years). All patients with a relapse-free survival of ≥9 months, at least 3 consecutive vaccinations and absence of intravenous immunoglobulin administration within 3 months before and after vaccination met the primary inclusion criteria. Additionally, immunological response to a pneumococcal conjugate vaccine was analyzed in a subgroup of 67 patients. Patients’ characteristics at the time of first vaccination were recorded. Responses were measured as vaccine-specific antibody titers. Regarding DTaP-Hib-IPV vaccination, 89.3% (n = 75) of all patients achieved protective titers to at least 3 of the 4 vaccine components and were thus considered responders. 10.7% (n = 9) of the patients were classified as non-responders with positive immune response to less than 3 components. Highest response was observed for Hib (97.4%), tetanus (95.2%) and pneumococcal vaccination (83.6%) while only 68.3% responded to vaccination against Bordetella pertussis. Significant risk factors for failure of vaccination response included low B cell counts (p < 0.001; cut-off: 0.05 B cells/nl) and low IgG levels (p = 0.026; mean IgG of responders 816 mg/dl vs. 475 mg/dl of non-responders). Further, a trend was observed that prior cGvHD impairs vaccination response as 88.9% of the non-responders but only 54.7% of the responders had prior cGvHD (p = 0.073). The results demonstrate, that the currently proposed vaccination strategy leads to seroprotection in the majority of alloHSCT patients.     

Identification of two pathogenic mutations in SORL1 in early-onset Alzheimer’s disease

The sortilin-related receptor 1 (SORL1) gene has been the subject of many studies focusing on frequent polymorphisms, which is associated with increased risk for Alzheimer’s Disease (AD). By whole-exome sequencing (WES), we identified two pathogenic missense mutations c.579C > G (p.F193L) and c.1397A > G (p.N466S) in SORL1. The two mutations were located in the same protein domain, and the two unrelated probands both had an onset of memory problems at less than 65 years of age, but their clinical manifestations and cranial imaging are different. The protein structure and function affected by these mutations were predicted using bioinformatics analysis, which suggested they were pathogenic. 3D protein structural analysis revealed that these amino acid substitutions might result in instability of protein structure and adverse intramolecular interactions. These findings suggest that both F193L and N466S should be thought as potential causative mutations in early-onset Alzheimer’s disease (EOAD) patients. Further functional studies are warranted to evaluate their roles in the pathogenesis of AD.     

单味中药降尿酸作用机制概述※

降尿酸是治疗痛风和高尿酸血症的基本方法，目前降尿酸作用途径主要是通过抑制黄嘌呤氧化酶、腺苷脱氨酶等合成酶的活性，或（且）影响肾脏尿酸转运蛋白（OAT1、OAT3、URAT1、GLUT9）等的表达，进而降低尿酸的水平。由于中药治疗高尿酸血症及痛风的作用机制尚不明确，因此本文通过检索中国知网、维普、万方、pubMed、Embase等数据库，对相关文献进行筛选，总结了具有明确降尿酸作用机制的单味中药，并进行功效归类，有助于对其作用机制进一步研究，为防治痛风和高尿酸血症提供更可靠、更安全的中医治疗依据。     

基因组拷贝数变异测序与染色体核型分析在胎儿遗传学诊断中的比较

目的比较基因组拷贝数变异测序(CNV-seq)技术和染色体核型分析和在产前胎儿遗传学诊断中的应用价值。方法收集来我院有产前诊断指征进行羊水穿刺的259例孕妇,取材后,送检染色体核型分析和CNV-seq,比较两种方法在产前诊断中的优缺点。结果259例标本中,共诊断异常染色体核型及微缺失微重复23例,总阳性诊断率8.88%(23/259),CNV-seq结果显示,共有22例染色体拷贝数异常(12例三体+9例微缺失微重复+1例三倍体),检出率为8.49%;染色体核型分析结果显示为:17例染色体异常(12例三体+3例结构异常+1例嵌合型+1例三倍体),检出率为6.56%。此外还检出染色体多态7例。结论CNV-seq与染色体核型分析对于染色体非整倍体的检测效力一致,CNV-seq能检测染色体微缺失微重复,染色体核型分析则能诊断出三体具体核型,在怀疑性染色体异常时,建议行两者联合检测。