Hirschsprung's disease: associated abnormalities and demography.

We here examine the demographic parameters of patients with Hirschsprung's disease. The study population includes all patients with histologically confirmed disease treated at the Children's Hospital Medical Center of Boston over the 25-year period extending from 1961 through the first quarter of 1986. There were 179 cases. Overall, children with Hirschsprung's disease were found less likely to be first born (P less than .01). This relationship was seen to persist irrespective of maternal age, maternal race, or type of disease. The implications of this finding are discussed. Overall, 22% of these children had one or more associated abnormalities involving the neurological, cardiovascular, urological, and gastrointestinal systems. Many of the disorders appeared to be related to neurocrestopathies. Frequent associations included Down's syndrome, defects in cardiac septation, tetralogy of Fallot, and Dandy-Walker syndrome. These conditions occurred more frequently than would have been predicted through chance alone. This study found no association between an increased maternal age and the occurrence of Hirschsprung's disease. This study also found that approximately 7% of the affected children had been born prematurely.     

Radical nephrectomy with resection of vena cava thrombus using extracorporeal circulation and deep hypothermic circulatory arrest

IntroductionPatients with renal cell carcinoma (RCC) with level 3 or 4 caval thrombus have a poor prognosis, with reported five-year survival rates of 30–40%. The aim of this study was to assess the perioperative morbidity and long-term oncological outcomes for radical nephrectomy with resection of vena cava thrombus using a combined surgical approach, including extracorporeal circulation and deep hypothermic circulatory arrest.MethodsA retrospective review was performed of the institutional case log to identify all radical nephrectomies with caval thrombus performed from January 2006 to May 2020.ResultsTwenty-five patients were identified with level 2 thrombus in one (4%), level 3 thrombus in eight (32%), and level 4 in 16 (64%). The median followup was 20.6 months (range 0.2–133.3). The median age at surgery was 68.4 years (range 44.2–85.5). Twenty-one (84%) patients were symptomatic at presentation. Six (24%) patients had distant metastases at diagnosis. The median circulatory arrest time was 15 minutes (range 6–35). The 30-day grade ≥3 complication rate was 8%. The 30-day mortality rate was 8%. The one-year, two-year, three-year, and five-year recurrence-free survival (RFS) rates were 53%, 18%, 10%, and 10%, respectively. The median time to systemic treatment was 7.7 months (range 1.2–25.7). The one-year, two-year, three-year, and five-year overall survival (OS) rates were 70%, 43%, 36%, and 31%, respectively.ConclusionsRadical nephrectomy with resection of vena cava thrombus using extracorporeal circulation and deep hypothermic circulatory arrest is associated with some morbidity and mortality but remains a safe and effective strategy for advanced RCC patients who would otherwise be managed palliatively.     

Computed tomography (CT) evaluation of breast cancer patients with osteolytic bone metastases undergoing palliative radiotherapy—a feasibility study

Twenty-five patients with osteolytic metastases had computed tomography (CT) scans before and 3 months after palliative radiotherapy. The median % density change following single 8 Gy, 20 Gy/5#, 30 Gy/10# were: 128 (range 98–255), 141 (79–342), and 145 (65–235), respectively. It is feasible to evaluate remineralization of osteolytic lesions with palliative radiotherapy.     

Perceval Sutureless Valve – are Sutureless Valves Here?

With the advent of transcatheter aortic valve implantation (TAVI) techniques, a renewed interest has developed in sutureless aortic valve concepts in the last decade. The main feature of sutureless aortic valve implantation is the speed of insertion, thus making implantation easier for the surgeon. As a result, cross clamp times and myocardial ischemia may be reduced. The combined procedures (CABG with AVR in particular) can be done with a short cross clamp time. Perceval valve also provides an increased effective orifice area as compared with a stented bioprosthesis. Sutureless implantation of the Perceval valve is not only associated with shorter cross-clamp and cardiopulmonary bypass times but improved clinical outcomes too. This review covers the sutureless aortic valves and their evolution, with elaborate details on Perceval S valve in particular (which is the most widely used sutureless valve around the globe).     

Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)

Iron overload may predominantly involve parenchymal or reticuloendothelial cells, the prototype of parenchymal iron overload being HFE-related genetic haemochromatosis. We studied a family with autosomal dominant hyperferritinaemia in whom the proband showed selective iron accumulation in the Kupffer cells on liver biopsy. Analysis of L and H ferritin genes excluded mutations responsible for hereditary hyperferritinaemia/cataract syndrome or similar translational disorders. Sequence analysis of the ferroportin gene (SLC11A3) in four individuals with hyperferritinaemia singled out a three base pair deletion in a region that contains four TTG repeats. This mutation removes a TTG unit from 780 to 791, and predicts the loss of one of three sequential valine residues 160-162. Denaturing high performance liquid chromatography can be used for its detection. SLC11A3 polymorphism analysis indicates that this probably represents a recurrent mutation due to slippage mispairing. Affected individuals may show marginally low serum iron and transferrin saturation, and young women may have marginally low haemoglobin concentration levels. Serum ferritin levels are directly related to age, but are 10-20 times higher than normal. Heterozygosity for the ferroportin Val 162 deletion represents the prototype of selective reticuloendothelial iron overload, and should be taken into account in the differential diagnosis of hereditary or congenital hyperferritinaemias.     

社会、经济与环境因素对老年健康和死亡的影响——基于中国22省份的抽样调查

基于全国22省市886个县15 973位老人2002—2005年跟踪调查数据,本文应用多水平多元logit模型,对社会、经济和环境因素对老年健康和死亡的影响进行了分析。结果表明,控制了个人层面相关变量后,空气污染显著增加了老人ADL（日常生活自理能力）残障、认知功能差与累计健康亏损指数上升的可能性。降雨量的增加则显著降低了老人ADL残障和认知功能差的风险。极低的气温显著增加了老人ADL残障的风险与死亡风险,而极高的气温显著增加了老人认知功能差和累计健康亏损指数上升的可能性。居住在山区的老人ADL残障风险较低,累计健康亏损指数亦较低。此外,人均GDP、15～64岁人口的劳动参与率以及文盲率对中国老年人的生理健康、心理健康、整体健康水平以及死亡风险有显著的、作用方向不同的影响。最后,得出如下结论：保护自然环境、改善社会经济状况的干预措施将有利于改善老人健康、降低老人死亡风险。