Tumour spectrum of non-polyposis colorectal cancer (Lynch syndrome) on the island of Tenerife and influence of insularity on the clinical manifestations.

Colorectal cancer is a complex disease from a genetic point of view because both genetic and environmental factors interact in its development. Only familial adenomatous polyposis (FAP) follows mendelian genetics, in that mutations of the APC gene lead to development of the tumours. Lynch syndrome is the most frequent form of hereditary colorectal cancer and appears to be associated with other types of extracolonic cancers. The genetic basis has been established as a defect in DNA mismatch repair genes, and there is genetic heterogeneity due to the involvement of several genes in this system. Germinal mutations in these genes predispose to appearance of the syndrome. The aim of this study is to describe the tumoral spectrum of 10 families, comprising a total of 488 individuals, from the island of Tenerife (Canary Islands) and to assess whether the geographical isolation of this population has changed any features of the tumoral spectrum of the syndrome in comparison with studies that cover larger geographical areas with more genetic exchange. From our results we can conclude that the genetic drift and consanguinity in this population with a demographic history of isolation did not significantly alter the tumoral spectrum of the syndrome. Our data confirm that families affected by Lynch syndrome are a high-risk population and should be closely monitored, since their careful supervision has been shown to be useful in preventing cancer. We also emphasize the importance of developing a complete family history that permits these families to be identified together with a mutational screening of DNA mismatch repair genes (mainly MLH1 and MSH2 genes) with the aim of a possible identification of members of a family that should be carefully monitored (the carriers of germline mutations in these genes), whereas the remaining members, originally, are no more at risk than the general population.     

Cisplatin plus gemcitabine versus a cisplatin-based triplet versus nonplatinum sequential doublets in advanced non-small-cell lung cancer: a Spanish Lung Cancer Group phase III randomized trial.

PURPOSE: To compare the survival benefit obtained with cisplatin plus gemcitabine, a cisplatin-based triplet, and nonplatinum sequential doublets in advanced non-small-cell lung cancer (NSCLC). PATIENTS AND METHODS: Stage IIIB to IV NSCLC patients were randomly assigned to receive cisplatin 100 mg/m2 day 1 plus gemcitabine 1,250 mg/m2 days 1 and 8, every 3 weeks for six cycles (CG); cisplatin 100 mg/m2 day 1 plus gemcitabine 1,000 mg/m2 and vinorelbine 25 mg/m2 days 1 and 8, every 3 weeks for six cycles (CGV); or gemcitabine 1,000 mg/m2 plus vinorelbine 30 mg/m2 days 1 and 8, every 3 weeks for three cycles, followed by vinorelbine 30 mg/m2 days 1 and 8 plus ifosfamide 3 g/m2 day 1, every 3 weeks for three cycles (GV-VI). RESULTS: Five hundred fifty-seven patients were assigned to treatment (182 CG, 188 CGV, 187 GV-VI). Response rates were significantly inferior for the nonplatinum sequential doublet (CG, 42%; CGV, 41%; GV-VI, 27%; CG v GV-VI, P =.003). No differences in median survival or time to progression were observed. Toxicity was higher for the triplet: grade 3 to 4 neutropenia (GC, 32%; CGV, 57%; GV-VI, 27%; P <.05); neutropenic fever (CG, 4%; CGV, 19%; GV-VI, 5%; P <.0001); grade 3 to 4 thrombocytopenia (CG, 19%; CGV, 23%; GV-VI, 3%; P =.0001); and grade 3 to 4 emesis (GC, 22%; GCV, 32%; GV-VI, 6%; P <.0001). CONCLUSION: On the basis of these results, CG remains a standard regimen for first-line treatment of advanced NSCLC.     

Development of a diabetes care management curriculum in a family practice residency program.

Improving the quality of care for patients with chronic illness has become a high priority. Implementing training programs in disease management (DM) so the next generation of physicians can manage chronic illness more effectively is challenging. Residency training programs have no specific mandate to implement DM training. Additional barriers at the training facility include: 1) lack of a population-based perspective for service delivery; 2) weak support for self-management of illness; 3) incomplete implementation due to physician resistance or inertia; and 4) few incentives to change practices and behaviors. In order to overcome these barriers, training programs must take the initiative to implement DM training that addresses each of these issues. We report the implementation of a chronic illness management curriculum based on the Improving Chronic Illness Care (ICIC) Model. Features of this process included both patient care and learner objectives. These were: development of a multidisciplinary diabetes DM team; development of a patient registry; development of diabetes teaching clinics in the family practice center (nutrition, general management classes, and one-on-one teaching); development of a group visit model; and training the residents in the elements of the ICIC Model, ie, the community, the health system, self-management support, delivery system design, decision support, and clinical information systems. Barriers to implementing these curricular changes were: the development of a patient registry; buy-in from faculty, residents, clinic leadership, staff, and patients for the chronic care model; the ability to bill for services and maintain clinical productivity; and support from the health system key stakeholders for sustainability. Unique features of each training site will dictate differences in emphasis and structure; however, the core principles of the ICIC Model in enhancing self-management may be generalized to all sites.     

Implantation of a composite bifurcated cryopreserved aorto-iliac-femoral homograft in a patient with Candida albicans endocarditis

A 35 year old woman, cocaine addict, suffered Candida albicans aortic valve endocarditis complicated with embolisation of infected vegetations in the distal abdominal aorta. She underwent successful staged aortic valve replacement followed by transaortic and transfemoral thrombectomy. One month later an arteriogram disclosed partial occlusion of the left iliac artery, bilateral aneurysmal degeneration of both iliac arteries and right iliac artery-right iliac vein fistula. She was operated again, performing re-laparotomy and re-exploration. A composite bifurcated cryopreserved homograft was implanted end-to-side between the infrarenal abdominal aorta, right external iliac artery and left common femoral artery. The right iliac artery-iliac vein fistula was obliterated with suture. The patient had an uneventful recovery but a relapsing arterio-venous fistula was diagnosed by arteriography. Three months later she underwent percutaneous transluminal closure of the reopened fistula. At present, 17 months after the implantation of the homograft, the patient is symptom-free, on antifungal agents and with arteriographic and clinical evidence of a well-functioning arterial homograft.     

Severe influenza B myocarditis and myositis.

OBJECTIVE: To report an influenza B infection with associated myocarditis and severe skeletal myositis. DESIGN: Case report. SETTING: Cardiac intensive care unit in a university-affiliated children's hospital. PATIENT: A 4-yr-old girl. RESULTS: The patient was successfully supported with extracorporeal membrane oxygenation for profound myocardial dysfunction and a combination of plasmapheresis and continuous venovenous hemodialysis for rhabdomyolysis and acute renal failure. CONCLUSIONS: This case provides a reminder that patients presenting with viral illness or myoglobinuria accompanied by renal failure, with or without associated myocarditis, may be demonstrating symptoms of influenza B.     

Computed tomography in children with cystic fibrosis: a new way to reduce radiation dose.

AIMS: To determine whether the monitoring of respiratory disease progression in children with cystic fibrosis (CF) can be made using six pre-selected computed tomography (CT) cuts in lieu of the conventional full study. METHODS: Forty one lung CT scans from 21 paediatric patients with CF were analysed. The Bhalla and Nathanson scores of the total lung CT and the six pre-selected CT cuts were compared. RESULTS: The Bhalla mean score of the total lung CT evaluated by two radiologists was 5.62. It was 5.36 when just the six pre-selected sections were evaluated. The difference between means was not statistically significant. The Nathanson mean score of the total lung CT evaluated by both radiologists was 66.11; it was 66.51 when just the six pre-selected sections were evaluated. The difference between means was not statistically significant. The mean total radiation dose from a single whole lung CT scan was 716.22 mGy.cm. A dose of 250.66 mGy.cm was estimated if only six sections were used, with a reduction in radiation of about 65%. CONCLUSION: It is possible to obtain the same radiological information from six pre-selected CT cuts as it is from a full pulmonary CT scan, thereby markedly reducing radiation exposure for children who will require repeat investigations in the future.     

Reducing weight gain in children through enhancing physical activity and nutrition: the APPLE project.

OBJECTIVE: Community-based lifestyle intervention may offer the best means of reducing the global epidemic of childhood obesity and its consequences, yet few successful interventions have been reported. The objective was to determine whether increasing extra-curricular levels of activity could reduce weight gain in children. METHODS: A controlled intervention study was conducted using standardised methods to assess outcomes. Two comparable relatively rural communities in Otago, New Zealand formed intervention and control settings. Height, weight, waist circumference and participation in physical activity (by accelerometry) were measured at baseline and at 1 year in 384 children aged 5 to 12 years representing the majority of children in this age group in intervention and control communities. Community Activity Co-ordinators were employed at each school in the intervention area. Their brief was to widen exposure to activity and engage children not interested in traditional sporting activities by encouraging lifestyle-based activities (e.g. walking) and non-traditional sports (e.g. golf and taekwondo) during extra-curricular time at school, after school and during vacations. Simple dietary advice was offered and the wider community was encouraged to participate. RESULTS: Average accelerometry counts at 1 year were 28% (95% CI: 11 to 47%) higher in intervention compared with control children after adjusting for age, sex, baseline values and school. Intervention children spent less time in sedentary activity (ratio 0.91, p = 0.007) and more time in moderate (1.07, p = 0.001) and moderate/vigorous (1.10, p = 0.01) activity. Adjusted mean BMI Z-score was lower in intervention relative to control children by -0.12 units (95% CI: -0.22 to -0.02). CONCLUSION:. An intervention designed to maximise opportunities for physical activity during extra-curricular time at school and during leisure time through the provision of community-based Activity Co-ordinators significantly increased participation in physical activity and slowed unhealthy weight gain in primary school-aged children.