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AIM: Lung metastases from colorectal cancer are resected in selected patients in the belief that this confers a significant survival advantage. It is generally assumed that the 5-year survival of these patients would be near zero without metastasectomy. We tested the clinical effectiveness of this practice in Pulmonary Metastasectomy in Colorectal Cancer (PulMiCC), a randomized, controlled noninferiority trial. METHOD: Multidisciplinary teams in 14 hospitals recruited patients with resectable lung metastases into a two-arm trial. Randomization was remote and stratified according to site, with minimization for age, sex, primary cancer stage, interval since primary resection, prior liver involvement, number of metastases and carcinoembryonic antigen level. The trial management group was blind to patient allocation until after intention-to-treat analysis. RESULTS: From 2010 to 2016, 93 participants were randomized. These patients were 35-86 years of age and had between one and six lung metastases at a median of 2.7 years after colorectal cancer resection; 29% had prior liver metastasectomy. The patient groups were well matched and the characteristics of these groups were similar to those of observational studies. The median survival after metastasectomy was 3.5 (95% CI: 3.1-6.6) years compared with 3.8 (95% CI: 3.1-4.6) years for controls. The estimated unadjusted hazard ratio for death within 5 years, comparing the metastasectomy group with the control group, was 0.93 (95% CI: 0.56-1.56). Use of chemotherapy or local ablation was infrequent and similar in each group. CONCLUSION: Patients in the control group (who did not undergo lung metastasectomy) have better survival than is assumed. Survival in the metastasectomy group is comparable with the many single-arm follow-up studies. The groups were well matched with features similar to those reported in case series.
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Neoplasias Colorrectales , Neoplasias Pulmonares , Metastasectomía , Neoplasias Colorrectales/patología , Neoplasias Colorrectales/cirugía , Humanos , Neoplasias Pulmonares/cirugía , Estadificación de Neoplasias , Estudios Retrospectivos , Tasa de SupervivenciaRESUMEN
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.
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Trombolisis Mecánica , Neumonectomía , Complicaciones Posoperatorias/terapia , Accidente Cerebrovascular/terapia , Anciano de 80 o más Años , Humanos , Masculino , Accidente Cerebrovascular/etiologíaRESUMEN
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.
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Neoplasias Esofágicas , Liposarcoma , Neoplasias del Mediastino , Anciano , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patología , Neoplasias Esofágicas/cirugía , Humanos , Liposarcoma/diagnóstico , Liposarcoma/patología , Liposarcoma/cirugía , Masculino , Neoplasias del Mediastino/diagnóstico , Neoplasias del Mediastino/patología , Neoplasias del Mediastino/cirugíaRESUMEN
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.
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People with severe cystic fibrosis (CF) lung disease with co-existent CF-associated liver disease (CFLD) are often excluded from consideration of sole lung transplantation, largely because of the concerns that they will subsequently develop hepatic decompensation. This retrospective cohort study aimed at determining whether patients with severe cirrhosis caused by CFLD have any differences in perioperative and relevant post-transplant outcomes compared to CF patients without CFLD when undergoing sole lung transplantation. Six patients with CFLD were matched with 18 CF patients without CFLD undergoing sole lung transplant at the same institution. There were no differences in total operative time or intra-operative requirements for cardiopulmonary bypass or blood products. Over a period of five yr post-transplant, no differences were observed between the two groups in body mass index, six-min walk, lung function, and survival. None of the CFLD subjects developed variceal bleeding; however, one developed hepatocellular and renal failure at four yr post-transplant and is being assessed for liver-kidney transplant. One additional patient with CFLD required repeat lung transplantation for bronchiolitis obliterans syndrome. This study provides evidence that CF patients with liver cirrhosis caused by CFLD can safely be considered for sole lung transplantation provided there is no evidence of significant hepatocellular dysfunction with decompensated cirrhosis or hepatic synthetic failure.
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Fibrosis Quística/mortalidad , Fibrosis Quística/terapia , Cirrosis Hepática/mortalidad , Trasplante de Pulmón/mortalidad , Adolescente , Adulto , Niño , Fibrosis Quística/complicaciones , Femenino , Volumen Espiratorio Forzado , Humanos , Cirrosis Hepática/etiología , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia , Adulto JovenRESUMEN
Cystic fibrosis (CF) lung transplant recipients infected with Burkholderia cenocepacia have a worse survival rate after lung transplantation than those who are not infected with this organism. The decreased survival is predominantly due to recurrent B. cenocepacia infection, with the majority of affected recipients succumbing within 3 months after transplant. B. cepacia complex (BCC) sepsis is one of the defining criteria for cepacia syndrome, an almost universally fatal necrotizing pneumonic illness. We report 2 CF patients who were long-term survivors of B. cenocepacia sepsis after lung transplantation. The aim of this report is to demonstrate that, although survival of B. cenocepacia sepsis after lung transplantation is extremely uncommon, with aggressive multidisciplinary management, long-term survival remains a realistic objective.
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Infecciones por Burkholderia/mortalidad , Complejo Burkholderia cepacia/aislamiento & purificación , Fibrosis Quística/complicaciones , Fibrosis Quística/mortalidad , Trasplante de Pulmón/efectos adversos , Sepsis/mortalidad , Adulto , Antibacterianos/uso terapéutico , Infecciones por Burkholderia/microbiología , Infecciones por Burkholderia/cirugía , Complejo Burkholderia cepacia/clasificación , Complejo Burkholderia cepacia/efectos de los fármacos , Fibrosis Quística/tratamiento farmacológico , Fibrosis Quística/cirugía , Empiema Pleural/microbiología , Empiema Pleural/cirugía , Femenino , Humanos , Pulmón/cirugía , Absceso Pulmonar/microbiología , Absceso Pulmonar/cirugía , Trasplante de Pulmón/mortalidad , Masculino , Sepsis/tratamiento farmacológico , Sepsis/microbiología , Sepsis/cirugía , Tasa de Supervivencia , Sobrevivientes , Adulto JovenRESUMEN
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.
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Puente de Arteria Coronaria/métodos , Vasos Coronarios/cirugía , Endoscopía/métodos , Robótica , Animales , Puente de Arteria Coronaria/instrumentación , Diseño de Equipo , Humanos , Aprendizaje , Reproducibilidad de los Resultados , Técnicas de Sutura , Porcinos , Factores de TiempoRESUMEN
Prevention of peri-bracket decalcification is essentially mediated by effective oral hygiene, which is patient dependent. The potential to compensate for poor oral hygiene may be through the release of free fluoride ions from direct bonding agents. It is well established that glass ionomer cements (GICs) release free fluoride ions which may be replenished by exposure to fluoride containing solutions. The aim of this ex vivo study was to compare the fluoride release and absorption profiles of a recently developed low fusion, monophase GIC, Limerick glass, with two materials in common clinical use, namely, Fuji-Ortho L.C. and Concise. Ten test specimens of each material were fabricated and stored in deionized water at 37 degrees C. The concentration of fluoride release was measured daily for the first 7 days after immersion and then weekly for 5 weeks. On day 42 the test specimens were recharged in 2 per cent sodium fluoride solution and fluoride release was measured initially after 24 hours and then every 48 hours. The recharge regimen was repeated for 3 weeks. Both Limerick glass and Fuji-Ortho L.C. demonstrated the characteristic fluoride release pattern of GIC with a rapid elution of fluoride after the first 24 hours followed by a more gradual release profile over the following 2 weeks. Fuji-Ortho L.C. released the greatest quantity of fluoride but the release profile of Limerick glass was more sustained. Concise released negligible amounts of fluoride. Limerick glass and Fuji-Ortho L.C. showed an increase (P < 0.01) in fluoride release following exposure to 2 per cent sodium fluoride that decreased both with time and subsequent exposures to fluoride supplement.
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Cariostáticos/química , Cementos Dentales/química , Fluoruros/química , Absorción , Resinas Acrílicas/química , Silicatos de Aluminio/química , Bisfenol A Glicidil Metacrilato/química , Difusión , Cementos de Ionómero Vítreo/química , Humanos , Inmersión , Ensayo de Materiales , Fluoruro de Sodio/química , Estadística como Asunto , Estadísticas no Paramétricas , Temperatura , Factores de Tiempo , Agua/químicaRESUMEN
BACKGROUND: The inherited palmoplantar keratodermas (PPKs) are a clinically heterogeneous group of disorders characterized by thickening of the skin of the palms and the soles. These diseases also exhibit genetic heterogeneity and many autosomal dominant and recessive forms have been described. Mal de Meleda (Meleda disease, MD) is an autosomal recessive form of PPK first described on the Dalmatian island of Meleda. A gene for MD has recently been assigned to the most telomeric portion of chromosome 8q using two large Algerian families. OBJECTIVES: To determine whether the same gene underlies the skin disease in Meleda islanders. METHODS: We have examined five affected individuals originating from the Dalmatian island itself for 8qter homozygosity. RESULTS: This region was found to be homozygous in all five affected individuals but in none of the 20 other unaffected family members examined. CONCLUSIONS: The current study confirms the localization of a gene for MD to 8qter using samples from the island of Meleda, highlighting the clinical and genetic homogeneity of this condition.
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Cromosomas Humanos Par 8 , Homocigoto , Queratodermia Palmoplantar/genética , Femenino , Ligamiento Genético , Humanos , Masculino , LinajeRESUMEN
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.
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Cardiomiopatía Dilatada/genética , Antígenos HLA/genética , Hemocromatosis/genética , Antígenos de Histocompatibilidad Clase I/genética , Proteínas de la Membrana , Mutación , Adulto , Cardiomiopatía Dilatada/sangre , Cardiomiopatía Dilatada/cirugía , Estudios de Casos y Controles , Femenino , Trasplante de Corazón , Proteína de la Hemocromatosis , Heterocigoto , Humanos , Hierro/sangre , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Tasa de SupervivenciaRESUMEN
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant heart muscle disorder that causes arrhythmia, heart failure, and sudden death. Previously we mapped the genetic locus for the triad of autosomal recessive ARVC, palmoplantar keratoderma, and woolly hair (Naxos disease) to chromosome 17q21, in which the gene for plakoglobin is encoded. This protein is a key component of desmosomes and adherens junctions, and is important for the tight adhesion of many cell types, including those in the heart and skin. METHODS: We studied 19 individuals with Naxos disease, as well as unaffected family members and unrelated individuals from the neighbouring Greek islands of Naxos and Milos. Gene sequence was determined by reverse transcriptase PCR from RNA isolated from the skin of an affected individual and mutations in other cases were confirmed by restriction-enzyme analysis. FINDINGS: A homozygous 2 base pair deletion in the plakoglobin gene was identified only in the 19 affected individuals. This deletion caused a frameshift and premature termination of the protein, which was shown by western blot analysis. 29 clinically unaffected family members were heterozygous for the mutation; 20 unrelated individuals from Naxos and 43 autosomal dominant ARVC probands were homozygous for the normal allele. INTERPRETATION: The finding of a deletion in plakoglobin in ARVC suggests that the proteins involved in cell-cell adhesion play an important part in maintaining myocyte integrity, and when junctions are disrupted, cell death, and fibrofatty replacement occur. Therefore, the discovery of a mutation in a protein with functions in maintaining cell junction integrity has important implications for other dominant forms of ARVC, related cardiomyopathies, and other cutaneous diseases.
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Displasia Ventricular Derecha Arritmogénica/genética , Proteínas del Citoesqueleto/genética , Enfermedades del Cabello/genética , Queratodermia Palmoplantar/genética , Eliminación de Secuencia , Alelos , Secuencia de Aminoácidos , Displasia Ventricular Derecha Arritmogénica/patología , Secuencia de Bases , Cromosomas Humanos Par 17 , Desmoplaquinas , Mutación del Sistema de Lectura , Grecia , Humanos , Datos de Secuencia Molecular , Linaje , Fenotipo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , gamma CateninaRESUMEN
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.
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Displasia Ventricular Derecha Arritmogénica/genética , Mapeo Cromosómico , Cromosomas Humanos Par 17 , Enfermedades del Cabello/genética , Queratodermia Palmoplantar/genética , Femenino , Ligamiento Genético , Humanos , Masculino , LinajeRESUMEN
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.
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Cardiomiopatía Dilatada/genética , Adulto , Cardiomiopatía Dilatada/diagnóstico por imagen , Cardiomiopatía Dilatada/fisiopatología , Progresión de la Enfermedad , Femenino , Hemodinámica , Humanos , Masculino , Persona de Mediana Edad , Consumo de Oxígeno , Estudios Prospectivos , Ultrasonografía , Función Ventricular IzquierdaAsunto(s)
Cardiomiopatías/genética , Cardiomiopatía Dilatada/etiología , Cardiomiopatía Dilatada/genética , Cardiomiopatía Hipertrófica/etiología , Cardiomiopatía Hipertrófica/genética , Cardiomiopatía Hipertrófica/patología , Cardiomiopatía Restrictiva/genética , Proteínas Portadoras/genética , Femenino , Humanos , Síndrome de QT Prolongado/genética , Masculino , Biología Molecular , Mutación , Miosinas/genética , Tropomiosina/genética , Troponina/genética , Troponina TRESUMEN
Dental anomalies are well documented in patients with cleft palate, although reports of intranasal teeth in these patients are extremely rare. This paper discusses the case of a rhinolith associated with tooth-like structures in a patient with a treated cleft palate.
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Cálculos/etiología , Fisura del Paladar/complicaciones , Diente Canino/anomalías , Enfermedades Nasales/etiología , Erupción Ectópica de Dientes/complicaciones , Diente Supernumerario/complicaciones , Adulto , Cálculos/diagnóstico por imagen , Cálculos/cirugía , Diente Canino/diagnóstico por imagen , Diente Canino/cirugía , Femenino , Humanos , Cavidad Nasal/diagnóstico por imagen , Cavidad Nasal/cirugía , Enfermedades Nasales/diagnóstico por imagen , Enfermedades Nasales/cirugía , Radiografía , Erupción Ectópica de Dientes/diagnóstico por imagen , Erupción Ectópica de Dientes/cirugía , Diente Supernumerario/diagnóstico por imagen , Diente Supernumerario/cirugíaRESUMEN
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.
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Asma/terapia , Servicio de Urgencia en Hospital/normas , Auditoría Médica , Adulto , Asma/diagnóstico , Humanos , Londres , Anamnesis , Registros Médicos/normas , Cuerpo Médico de Hospitales/normasRESUMEN
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.
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Poliposis Adenomatosa del Colon/genética , Enfermedad de Caroli/genética , Deleción Cromosómica , Cromosomas Humanos Par 5 , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/cirugía , Adulto , Anemia Hipocrómica/complicaciones , Anemia Hipocrómica/diagnóstico , Enfermedad de Caroli/complicaciones , Enfermedad de Caroli/diagnóstico , Colangiopancreatografia Retrógrada Endoscópica , Colelitiasis/diagnóstico por imagen , Bandeo Cromosómico , Mapeo Cromosómico , Colon/diagnóstico por imagen , Colon/patología , Colonoscopía , Femenino , Genes APC , Humanos , Hibridación in Situ , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Cariotipificación , Masculino , Páncreas/diagnóstico por imagenRESUMEN
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.