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Polycystic Kidney Disease Re-evaluated: A Population-based Study   总被引:2,自引:0,他引:2  
A genetic register of all known cases of autosomal dominantpolycystic kidney disease occurring in South and Mid-Wales hasbeen established. In a population of 2.1 million, 209 familieswith affected members were identified, 303 of whom are currentlyalive, 70 on renal replacement therapy. An additional 551 caseswould be predicted amongst family members at 50 per cent and25 per cent risk, giving an apparent prevalence of 1:2459 inthe general population. Five possible new mutations were seenwhere adults with phenotypic autosomal dominant polycystic kidneydisease had both parents alive, age > 55 years with no cystsvisible on ultrasound. The take-on rate for renal replacementtherapy increased during 1970–79 but has apparently reacheda plateau of 4.8 cases per million population per year overthe last 8 years, despite a rapidly increasing acceptance ofuraemic patients as a whole (72/106/year in 1988–89).Considerably more patients with autosomal dominant polycystickidney disease aged over 50 years were started on treatmentin 1980–89 than in 1970–79, but the survival overallimproved with time. All cases of autosomal dominant polycystickidney disease reaching end-stage renal disease are now beingtreated, but the apparent clinical prevalence of this conditionin our region is less than half the supposed gene frequency,suggesting that undiagnosed cases have a benign prognosis.  相似文献   
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INTRODUCTION

Blood is a scarce and expensive product. Although it may be life-saving, in recent years there has been an increased emphasis on the potential hazards of transfusion as well as evidence supporting the use of lower transfusion thresholds. Orthopaedic surgery accounts for some 10% of transfused red blood cells and evidence suggests that there is considerable variation in transfusion practice.

PATIENTS AND METHODS

NHS Blood and Transplant, in collaboration with the Royal College of Physicians, undertook a national audit on transfusion practice. Each hospital was asked to provide information relating to 40 consecutive patients undergoing elective, primary unilateral total hip replacement surgery. The results were compared to indicators and standards.

RESULTS

Information was analysed relating to 7465 operations performed in 223 hospitals. Almost all hospitals had a system for referring abnormal pre-operative blood results to a doctor and 73% performed a group-and-save rather than a cross-match before surgery. Of hospitals, 47% had a transfusion policy. In 73%, the policy recommended a transfusion threshold at a haemoglobin concentration of 8 g/dl or less. There was a wide variation in transfusion rate among hospitals. Of patients, 15% had a haemoglobin concentration less than 12 g/dl recorded in the 28 days before surgery and 57% of these patients were transfused compared to 20% with higher pre-operative values. Of those who were transfused, 7% were given a single unit and 67% two units. Of patients transfused two or more units during days 1–14 after surgery, 65% had a post transfusion haemoglobin concentration of 10 g/dl or more.

CONCLUSIONS

Pre-operative anaemia, lack of availability of transfusion protocols and use of different thresholds for transfusion may have contributed to the wide variation in transfusion rate. Effective measures to identify and correct pre-operative anaemia may decrease the need for transfusion. A consistent, evidence-based, transfusion threshold should be used and transfusion of more than one unit should only be given if essential to maintain haemoglobin concentrations above this threshold.  相似文献   
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Cytochrome c oxidase (CcO) is the terminal enzyme of the respiratory chain that catalyzes respiratory reduction of dioxygen (O(2)) to water in all eukaryotes and many aerobic bacteria. CcO, and its homologs among the heme-copper oxidases, has an active site composed of an oxygen-binding heme and a copper center in the vicinity, plus another heme group that donates electrons to this site. In most oxidoreduction enzymes, electron transfer (eT) takes place by quantum-mechanical electron tunneling. Here we show by independent molecular dynamics and quantum-chemical methods that the heme-heme eT in CcO differs from the majority of cases in having an exceptionally low reorganization energy. We show that the rate of interheme eT in CcO may nevertheless be predicted by the Moser-Dutton equation if reinterpreted as the average of the eT rates between all individual atoms of the donor and acceptor weighed by the respective packing densities between them. We argue that this modification may be necessary at short donor/acceptor distances comparable to the donor/acceptor radii.  相似文献   
87.

Background  

The relationship between poor health and unemployment is well established. Health promotion among unemployed persons may improve their health. The aims of this study were to investigate characteristics of non-participants and drop-outs in a multidisciplinary health promotion programme for long-term unemployed persons with health complaints, to evaluate changes in physical health among participants, and to investigate determinants of improvement in physical health.  相似文献   
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