Adult congenital heart disease

Continued advances in the understanding and management of congenital heart disease (CHD) mean that over 90% of children born with CHD now survive to adulthood. This in turn results in greater numbers of adult patients presenting for medical and surgical care at non-specialist centres. A simple classification of adult congenital heart disease (ACHD) according to complexity can help clinicians to understand the implications of the specific cardiac anomaly encountered. Issues relating to the conduct of anaesthesia in ACHD patient include careful attention to euvolaemia, the preservation of sinus rhythm and cardiac output, and in complex patients, manipulating the balance between systemic and pulmonary blood flows. Additionally, effective antibiotic prophylaxis and the prevention of either excessive bleeding or thromboembolism are vitally important. It should not be forgotten that although many patients with simple or repaired cardiac lesions may be very well managed in a non-specialist unit, those with Eisenmenger’s syndrome or severe pulmonary hypertension have an extremely high risk of death in the perioperative period, and in all but life-threatening situations should always be managed within specialist centres.     

Life underneath the VCA umbrella: Perspectives from the US Uterus Transplant Consortium

The parallel emergence of uterus transplantation (UTx) and other transplantation innovations including face and hand transplantation led to the categorization of the uterus as a vascular composite allograft (VCA). With >60 transplants and >20 births worldwide, UTx is transitioning rapidly from a research endeavor to an effective treatment option for women with uterine factor infertility. While it originally made sense to group the innovations under one umbrella, it is time to revisit the designation of UTx as a VCA. We describe how UTx needs unique policy, procedural codes, insurance contracts, and educational initiatives. We contend that separating UTx from VCAs may become necessary in the future to avoid hindering the growth and regulation of this field.     

Open reduction,Dega osteotomy and proximal femoral osteotomy in delayed diagnosis of developmental hip dislocation: outcome at 40-year follow-up

PurposeLate-diagnosed dislocated hips underwent open reduction, Dega osteotomy, and proximal femoral osteotomy between 1968 and 1988. The objectives of this study are to assess the survival of hips into adulthood, clinical and radiological outcome, patients’ life perspectives and the risk factors of failure.MethodsAn assessment of 67 hips treated when younger than five years (<age 5yr. group) and 71 hips in the group aged older than five years (+age 5yr.) was performed. All cases were evaluated clinically and radiographically, and survival was assessed, considering hip replacement as endpoints for failure (abbreviation HR+ refers to hips that underwent hip replacement surgery; HR- refers to hips that have not been replaced at the follow-up). The fertility rate and the social security disability benefits (SSDB) recipiency percentage were calculated.ResultsThe 40-year survival rates were 73% (95% confidence (CI) 71% to 76%) in the <age 5yr. group, 54% (95% CI 51% to 57%) in the +age 5yr. group, 70% (95% CI 67% to 73%) in one-sided dislocations and 57% (95% CI 54% to 60%) in bilateral dislocations. At follow-up, the median Harris hip and Western Ontario and McMaster Universities Osteoarthritis scores were 90.0 and 13.0 (<age 5yr. group, HR-), 74.0 and 28.0 (+age 5yr. group, HR-), 90.0 and 16.0 (<age 5yr. group, HR+) and 84.5 and 11.5 (+age 5yr. group, HR+), respectively. The operation normalized the radiological parameters. The correlation between the grade of femoral head avascular necrosis (AVN) at a median 2.6 years after the operation and the grade of osteoarthritis at follow-up was 0.38 (p < 0.001). The fertility rate was 1.54. In total, 16.0% (aged under five years) and 38.5% (aged over five years) of patients were receiving SSDB (p = 0.003).ConclusionEarly failure risk factors are older age at the surgical procedure, high AVN grade and bilateral hip involvement. Still, the results facilitate hip reposition whenever technically manageable, even in teenagers.Level of evidenceIII     

Towards a new WHO classification of renal cell tumor: what the clinician needs to know—a narrative review

In 1952, renal cell carcinomas had been divided into 2 categories—clear cell or granular cell—depending upon their cytoplasmic staining characteristics. In the following years, the inventory of renal epithelial tumors has expanded by the addition of tumors named by their architectural pattern (i.e., papillary RCC, tubulocystic RCC), anatomic location (i.e., collecting duct carcinoma, renal medullary carcinoma), associated diseases (i.e., acquired cystic disease-associated RCCs). With the extensive application of molecular diagnostic techniques, it becomes possible to detect genetic distinctions between various types of renal neoplasm and discover new entities, otherwise misdiagnosed or diagnosed as unclassified RCC. Some tumors such as ALK rearrangement-associated RCC, MiT family translocation renal carcinomas, SDH-deficient renal cancer or FH-deficient RCC, are defined by their molecular characteristics. The most recent World Health Organization (WHO) classification of renal neoplasms account for more than 50 entities and provisional entities. New entities might be included in the upcoming WHO classification. The aim of this review is to summarise and discuss the newly acquired data and evidence on the clinical, pathological, molecular features and on the prognosis of new RCC entities, which will hopefully increase the awareness and the acceptance of these entities among clinicians and improve prognostication for individual patients.     

Ectodermal dysplasias: not only 'skin' deep

The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings and propose a new classification of EDs integrating both molecular-genetic data and corresponding clinical findings of related diseases.     

搜索空间逐步缩小的遗传算法用于尿沉渣图像特征选择的研究

基于尿沉渣图像特征选择问题,提出一种新的特征优选方法,首先引入类空间分层分类思想,将多类成分特征集优选问题转化为两类成分的特征集优选问题以减少特征数,从而减少了后续分类器的维数复杂度并提高了优选后的特征集对成分的识别率;针对红细胞和白细胞的特征集优选问题,采用改进的遗传算法进行处理,先根据统计实验结果,锁定待选特征集中形态特征和纹理特征相应的两个可分度最大且相互独立的特征,然后使用基因位逐步锁定技术,结合小生境技术和自适应交叉变异算子,提高了遗传算法的搜索性能;最后,为了提高特征集的优选效果和稳定性,引入"多票投选"机制。就多个尿沉渣成分样本进行验证实验,结果表明,该算法优选的特征集与通过其他方式获得的特征集相比,识别率较高,而且明显减少了后续分类器的维数复杂度。     

完全性肺静脉异位连接的解剖分型及临床意义

目的：探讨完全性肺静脉异位连接（total anomalous pulmonary venous connection,TAPVC．）的解剖分型及其临床意义。方法：46例TAPVC患者按照Darling分型方法分型，并将心上型和心内型各分为2个亚形。将全组病例分成梗阻型和非梗阻型。对照术前患者的临床症状及体征及术后疗效。结果：46例TAPVC中心上型25例，肺静脉总干经垂直静脉连接于上腔静脉23例，肺静脉总干直接开口于右侧上腔静脉2例；心内型17例，肺静脉总干开口于冠状静脉窦11例，开口于右心房6例；心下型4例。肺静脉总干通过垂直静脉连接于肝门静脉。肺静脉回流梗阻7例，均依据解剖分型选择手术治疗。死亡4例，余康复出院。结论：TAPVC的解剖分型对其临床诊断及治疗有较高的价值。     

原发性闭角型青光眼房水蛋白含量的检测及其与中医证型关系的研究

对115例原发性闭角型青光眼和34例老年性白内障患者的房水蛋白进行了测定。结果：闭角型青光眼 疾病分类各组及中医证型各组均表现为房水白蛋白和总蛋白含量增高,与老年性白内障组相比,各组均有非常显著性差异（P＜0．01）。闭角型青光眼疾病分类组间比较及中医证型组间比较,房水白蛋白和总蛋白含量亦均有显著性差异（P＜0．05）或非常显著性差异（P＜0．01）。证明原发性闭角型青光眼患者的血－房水障碍功能遭受破坏,房水的粘度增加,房水淤积于眼内。