Mechanical thrombectomy for the treatment of acute ischaemic stroke following pulmonary lobectomy.

Acute ischaemic stroke is a devastating postoperative complication that significantly impacts upon a patient's quality of life. Endovascular retrieval of thromboembolic material from proximal cerebral arteries by mechanical thrombectomy is the new standard of care for patients presenting with a proximal artery occlusion. We report the case of a patient developing an acute ischaemic stroke following pulmonary lobectomy, who was transferred to the regional neurosciences unit, despite the absence of an established referral pathway, to undergo mechanical thrombectomy, with significant prognostic neurological benefit. We would advocate all cardiothoracic centres identify their regional neurosciences unit and initiate discussion to establish a referral pathway.

Surgical resection of a massive primary mediastinal liposarcoma with cervical extension.

A 73-year-old man was referred for surgical excision of a massive mediastinal and cervical liposarcoma following neoadjuvant chemotherapy. Surgery was performed via a cervical incision, sternotomy and right posterolateral thoracotomy. The tumour arose from the oesophagus, which underwent extensive dissection and was oversewn with pleura after tumour resection. Histology confirmed a completely excised grade 2 de-differentiated liposarcoma with complete macroscopic excision. The patient made an excellent recovery. Oesophageal liposarcomas are rare and, unlike in this case, often extend intraluminally, necessitating oesophagectomy. To our knowledge, this is the largest such tumour found in the literature.

Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease.

OBJECTIVES: This study sought to determine whether early disease is identifiable in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) by means of noninvasive cardiologic assessment. BACKGROUND: DCM is diagnosed on the basis of advanced heart failure, where cardiac dilation and impaired contractility are recognized in the absence of a recognized etiology (World Health Organization criteria). However, initial clinical presentation may be with severe complications: thromboembolism, arrhythmia or sudden death. DCM has recently been recognized to be familial, with autosomal dominant inheritance in many cases. Familial disease is present in 9% to 20% of patients with DCM, and the ability to identify early disease in such people may improve patient management and aid in the understanding of pathogenesis. METHOD: We prospectively assessed 408 asymptomatic relatives (mean [+/-SD] age 35 +/- 15 years, 193 men) of 110 consecutive patients with DCM by means of history and physical examination, two-dimensional echocardiography, 12-lead and signal-averaged electrocardiography and metabolic exercise testing. We hypothesized that signs of lesser cardiac dysfunction in such relatives might indicate early disease. RESULTS: Twenty-nine percent of relatives had abnormal results on the echocardiogram. Twenty percent (n = 45) had left ventricular enlargement (LVE), defined as LV end-diastolic diameter (LVEDD) > or = 112% predicted; 6% (n = 13) had depressed fractional shortening (dFS), defined as FS < or = 25%; and 3% (n = 7) had frank DCM, defined as LV dilation, impaired contractile performance and LVEDD > or = 112% plus FS < or = 25%. Other abnormalities of cardiac function were identified in relatives with LVE or dFS: A greater number with LVE had an abnormal metabolic exercise test result than normal relatives (9% vs. 1%, p < 0.05). Relatives with LVE and abnormal maximal oxygen consumption (VO2max) (defined as VO2max < 80% predicted) had a lower absolute VO2max than normal relatives (30 +/- 8 vs. 43 +/- 9 ml/min per kg, p = 0.01). The QRS duration (at the 25-Hz filter) on the signal-averaged electrocardiogram was prolonged in relatives with LVE (103 +/- 13 ms) and dFS (102 +/- 12 ms) compared with that of normal relatives (97 +/- 12 ms, p < 0.05). Over a mean 39-month follow-up period, 12 relatives with LVE (27%) and none with dFS developed symptomatic DCM (p < 0.0001). One relative with LVE died suddenly, and another underwent heart transplantation. CONCLUSIONS: Nearly one-third of asymptomatic relatives (29%) have echocardiographic abnormalities, and 27% of such relatives progress to development of overt DCM. Early identification of such people would permit appropriate intervention that might influence the serious complications and mortality of this disease.

Toward totally endoscopic coronary artery surgery.

BACKGROUND: Here we explore a method of using robotics to reduce morbidity and mortality in conventional coronary surgery. METHODS: Using a robotic surgical system two surgeons completed five steps: (1) 80 synthetic suture exercises; (2) 76 left internal thoracic artery to left anterior descending (LIMA-to-LAD) on porcine hearts; (3) cadaveric port placement for assessing optimal access; (4) endoscopic stabilization in the live porcine model; and, finally (5) eight clinical LIMA-to-LADs performed robotically. RESULTS: After 70 hours training, mean dry lab times fell from 7.0 and 5.8 min to 5.7 and 5.1 min in the two surgeonstab series. Wet lab times fell from 40.1 and 28.5 min to 28.8 and 19.2 min. In the clinical series of eight patients there were no mortalities; all had uncomplicated postoperative recovery and all were angina free at 6-week follow-up. CONCLUSION: The learning curve for robotic training is short, and reproducible results can be achieved clinically, after appropriate training, resulting in real patient benefit.

Adult asthma assessment in an accident & emergency department.

Poor initial assessment contributes to morbidity and mortality in acute severe asthma. We have audited this aspect of management in an A & E department over a single 6-month senior house officer employment cycle. The use of a cheap and simple stamp highlighting important clinical features of asthma was associated with a significant improvement in early assessment.

Reconstruction of chest wall chondrosarcoma with an anterolateral thigh free flap: An illustration of decision-making in chest wall reconstruction.

INTRODUCTION: Chondrosarcomas are the most common primary chest wall malignancy. The mainstay of treatment is radical resection, which often requires chest wall reconstruction. This presents numerous challenges and more extensive defects mandate the use of microvascular free flaps. Selecting the most appropriate flap is important to the outcome of the surgery. PRESENTATION OF CASE: A 71-year-old male presented with a large chondrocarcoma of the chest wall. The planned resection excluded use of the ipsilateral and contralateral pectoralis major flap because of size and reach limitations. The latissimus dorsi flap was deemed inappropriate on logistical grounds as well as potential vascular compromise. The patient was too thin for reconstruction using an abdominal flap. Therefore, following radical tumour resection, the defect was reconstructed with a methyl methacrylate polypropylene mesh plate for chest wall stability and an anterolateral thigh free flap in a single-stage joint cardiothoracic and plastic surgical procedure. The flap was anastomosed to the contralateral internal mammary vessels as the ipsilateral mammary vessels had been resected. DISCUSSION: The outcome was complete resection of the tumour, no significant impact on ventilation and acceptable cosmesis. CONCLUSION: This case demonstrates the complex decision making process required in chest wall reconstruction and the versatility of the ALT free flap. The ALT free flap ensured adequate skin cover, subsequent bulk, provided an excellent operative position, produced little loss of donor site function, and provided an acceptable cosmetic result.

The use of role-play in teaching medical students obstetrics and gynaecology.

There is a great need to review and critically assess medical education. Role-play has seen increasing use as an educational tool. We investigated its role in a 'conventional speciality', Obstetrics and Gynaecology. This is a part of the medical curriculum where communication skills are particularly important, but difficult to learn in practice. Twenty-one medical students took part in three role-play case studies. An innovation we implemented was the use of 'time outs' which could be called at any time through a session. After the exercise students were required to complete a questionnaire designed to probe their attitudes towards the experience. The results indicate that this technique can be successfully used in teaching a conventional speciality. Unlike some previous studies we also found this to be a satisfactory tool in teaching the factual part of the course. We found the 'time out' innovation to be an important aid. We argue that there is an important niche for role-play in medical education.

Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.

Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with occasional single polyps. Both subjects had dermoid cysts, and congenital hypertrophy of the retinal pigment epithelium (CHRPE) was seen in case 2. Case 1 has gastroduodenal polyps and desmoid tumours; case 2 has a marfanoid habitus with an abnormal pectus, wasted calf muscles and clawing of the toes, and Caroli's syndrome. His deletion is cytogenetically more extensive than that in case 1. The paucity of adenomas in the left side of the colon suggests that FAP cannot always confidently be excluded by sigmoidoscopy alone. The expression of the disease in the colon in these cases could be milder than in the more usual autosomal dominant cases where nonsense mutations resulting from single base changes of small deletions rather than deletion of the whole gene are the usual finding.

Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy.

BACKGROUND: Two common mutations of the haemochromatosis associated gene (HFE) (cys282tyr (C282Y) and his63asp (H63D)) have been implicated in haemochromatosis and as modulators in cardiovascular disease. OBJECTIVE: To investigate the role of these mutations in the pathogenesis of idiopathic dilated cardiomyopathy. DESIGN AND SETTING: Case-control and prospective cohort study of patients attending a cardiomyopathy unit in a tertiary referral cardiac centre. METHODS: 207 unrelated white patients with dilated cardiomyopathy, followed up for 259 patient years, and 200 controls were tested for HFE C282Y and H63D mutations by polymerase chain reaction and restriction digestion. RESULTS: 31/207 patients (15%) v 24/200 controls (12%) carried C282Y (adjusted odds ratio (OR) 1.2 (95% confidence interval 0.7 to 2.2)), 74/207 (36%) v 53/200 (27%) carried H63D (OR 1.6 (1.1 to 2.5)), and 10/207 (4.8%) v 4/200 (2%) were compound heterozygotes (OR 2.6 (0.8 to 8.5)). Four patients and six controls were H63D homozygous and one was C282Y homozygous. There was a progressive increase in mean serum iron ([Fe]) and transferrin saturations from patients with no mutation ([Fe] = 16.3 micromol/l, transferrin saturation = 23.7%) through H63D heterozygotes (17.5 micromol/l, 25.8%), C282Y heterozygotes (17.1 micromol/l, 26.6%), H63D homozygotes (20.0 micromol/l, 33.5%), compound heterozygotes (26.8 micromol/l, 41.7%), and C282Y homozygotes (34 micromol/l, 71%). At follow up (median 90 months) the rate of death or cardiac transplantation was 52/207 (25%). C282Y heterozygotes had less ventricular dilatation (mean (SD): 59.9 (1.7) mm v 64.9 (0.9) mm, p < 0.05), better fractional shortening (24 (1. 7)% v 18.8 (1.4)%, p < 0.01), and a trend towards improved survival without transplantation. [Fe] and transferrin saturation did not correlate with disease severity and were not associated with reduced survival. CONCLUSIONS: The frequency of the H63D mutation is significantly increased in patients with idiopathic dilated cardiomyopathy. As H63D has a relatively minor effect on iron status, the mechanism of this association may be unrelated to iron metabolism.

Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease of unknown etiology that causes arrhythmias, heart failure, and sudden death. Diagnosis can be difficult, and this hampers investigation of its molecular basis. Forms of ARVC in which gene penetrance and disease expression are greater should facilitate genetic study. We undertook a clinical and genetic investigation of Naxos disease, originally described by Protonotarios in 1986. This disease constitutes the triad of ARVC, diffuse nonepidermolytic palmoplantar keratoderma, and woolly hair. METHODS AND RESULTS: We evaluated the population of Naxos, Greece, to identify probands, which was followed by family screening. Twenty-one affected persons from 9 families of 150 persons were identified. Linkage analysis was performed with microsatellite markers. The disease locus mapped to 17q21. A peak 2-point LOD score of 3.62 at theta=0.0 was found with a marker within intron 4 of the keratin 9 gene, a member of the type I (acidic) keratin family. A preserved homozygous disease haplotype was identified. Haplotype analysis delimited the disease interval. CONCLUSIONS: Hair and skin abnormalities were found to be reliable markers of subsequent heart disease. This suggests the presence of a single mutant gene with novel cardiac, skin, and hair function or two or more tightly linked disease genes. Recessive inheritance of Naxos disease and a founder effect were demonstrated. Identification of a fully informative genetic marker linked to the disease and uncommon in the background population may be of use as a test to identify disease gene carriers.