Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families.

BRCA1 accounts for nearly all families with multiple cases of both early onset breast and ovarian cancer and about 45% of families with breast cancer only. Although to date more than 200 distinct mutations have been described, several have been found to be recurrent in the gene. We have analyzed 87 Spanish breast/ovarian cancer families for the six most recurrent mutations in the BRCA1 gene. The analysis of the five exons where these mutations are located was made using the SSCP and sequenciation techniques. Four mutations were found in our families and only two carried one of the six mutations analyzed. In both cases the mutation identified was 185delAG. Our results suggest that these six mutations are not specially recurrent in the Spanish population and that differences in the geographical origin of the families can influence the type and proportion of mutations identified.

Mutation analysis of the BRCA2 gene in breast/ovarian cancer Spanish families: identification of two new mutations.

The recently isolated gene BRCA2 is responsible for about 45% of familial breast cancer and the majority of male breast cancer families. We have screened 12 high risk breast/ovarian Spanish families for mutations in BRCA2, using SSCP followed by direct sequencing. We have found mutations in four of our 12 families (33.3%), including two with male breast cancer. Three of the mutations were frameshift and one was a missense. Two of the mutations have been previously published and two are new mutations.

Flow capacity of the human retrograde internal mammary artery: surgical considerations.

The diastolic flow of the retrograde internal mammary artery (IMA) was calculated in 30 patients and compared with the expected coronary flow of the left ventricle and that of specific branches. Arterial pressure and free flow were measured in the proximal and distal IMA as well as in the superior epigastric and musculophrenic arteries. Systolic and mean arterial pressure were significantly higher in the proximal IMA than in any other site, but diastolic pressure was comparable. Overall and diastolic antegrade IMA flows (77 +/- 6 and 44 +/- 3 mL/min) were significantly greater than the retrograde flows through the distal IMA (18.5 +/- 2 and 11.5 +/- 1 mL/min), musculophrenic artery (13.3 +/- 1 and 7.9 +/- 1 mL/min), and superior epigastric artery (5.3 +/- 0.4 and 3.1 +/- 0.2 mL/min). Only patient-size-related variables correlated significantly with retrograde IMA flow. Diastolic retrograde IMA flow represented 8.5% +/- 0.6% of the expected left ventricle coronary flow and in 12 patients (40%) was greater than the expected flow of at least one posteroinferior coronary artery. Based on these data, the retrograde IMA may adequately perfuse the posterior descending or other posterolateral coronary branches in select patients. Previous measuring of the retrograde flow is mandatory.

Eight years' experience with the Medtronic-Hall valve prosthesis.

During the period January 1981 to September 1986, 444 Medtronic-Hall heart valve prostheses were implanted in 351 patients (mean age, 45 +/- 10 years) mainly for rheumatic valve disease (63.2%). Most of the patients were in New York Heart Association functional class III. Concomitant surgical procedures, mainly conservative tricuspid or mitral procedures or coronary artery bypass grafting, were performed in 101 patients (28.7%). Single-valve replacement was performed in 262 patients (74.6%) (aortic in 117 patients, mitral in 143, and tricuspid in 2), double-valve replacement in 85 (24.2%) (mitral and aortic in 83 and mitral and tricuspid in 2), and triple-valve replacement in 4 (1.1%). Hospital mortality was 6.2%. Follow-up was 97.7% complete. The overall actuarial 8-year survival rate was 77.2%. The linearized incidence of valve-related complications was as follows: thromboembolism, 1.5%/patient-year; reoperation, 1.5%/patient-year; endocarditis, 1.25%/patient-year; hemolysis, 0.52%/patient-year; anticoagulant-related hemorrhage, 0.39%/patient-year; and noninfection-related paraprosthetic leak, 0.33%/patient-year. There were no instances of structural failure. We conclude that after 8 years of follow-up, the Medtronic-Hall valve prosthesis has an excellent clinical performance and a low range of valve-related complications.

Massive calcification of the left atrium: surgical implications.

BACKGROUND: Massive calcification of the atrial walls ("porcelain atrium") is a rare condition that usually has been reported as an incidental radiologic findings. METHODS: Between January 1988 and June 1993, 971 patients underwent valvular operation at our institution; 21 patients showed extensive calcification of the left atrium. In 8 patients the calcification was massive, involving almost all the atrial surface. The diagnoses were established by radiology and were confirmed at operation. The mean age of these patients (4 men, 4 women) was 55 +/- 9.6 years. All had rheumatic valve disease, were on atrial fibrillation, and had undergone at least one operation previously. Pulmonary artery pressure was severely increased, even up to systemic levels, in all patients except 1. Total endoatriectomy of the left atrium and mitral valve replacement were performed. No patient was lost during the follow-up. RESULTS: Hospital mortality rate was 12.5% (1 patient) and 2 patients died in the late postoperative period. None of these deaths are attributable to the surgical procedure. CONCLUSIONS: In toto endoatriectomy of a massively calcified atrium is an easy to perform technique that helps to replace the mitral valve and close the atrial wall.

Thoracic aneurysm as a cause of chyluria: resolution by surgical treatment.

A 37-year-old man who had suffered a thoracic trauma presented night release of whitish urine 2 years later. Thoracic computed tomography and aortography demonstrated an aneurysm of the thoracic aorta. Lymphography confirmed the compression of the thoracic duct by the aneurysm. After surgical repair the patient has remained asymptomatic.

Cardiac surgery in patients under chronic hemodialysis.

A total of 15 chronic renal failure patients on hemodialysis therapy underwent some kind of cardiovascular surgery between August 1984 and March 1993. Ten had a valve abnormality, and the remaining five had coronary artery disease. All of them were hemodialyzed the day before surgery and 24-48 h after the operation. Eleven recovered well after surgery, four died of septic shock: two of these were in septic shock prior to surgery; one was in acute congestive heart failure, and one was operated during an acute myocardial infarction. All operative deaths occurred in the patients who underwent non-elective surgery or were preoperatively in New Heart Association (NYHA) class IV. The factors having an impact on morbidity and mortality seem to be more related to the previous clinical situation and to the urgency of the operation than to the status of chronic renal failure. An early and adequate assessment of the candidates, when possible avoiding emergency surgery and acute left ventricular dysfunction, as well as careful management during cardiopulmonary bypass procedures (CPB) and the immediate post-surgical period will certainly improve the result of cardiac surgery in these patients, making it similar to those who are not in chronic renal failure.

[Long-term experience with multivalve replacement with the Medtronic-Hall mechanical prosthesis]. / Experiencia a largo plazo en las sustituciones polivalvulares con la prótesis mecánica de Medtronic-Hall.

During the period from January to September 1986, 182 Medtronic-Hall (M-H) heart valve prostheses were implanted in 89 patients, mainly because of rheumatic valve disease (68.5%). The patients were divided in two groups. Group I consisted of 83 patients with aortic and mitral valve replacement. Six patients with tricuspid valve replacement plus aortic and/or mitral valve replacement constituted group II. In group I the majority of the patients (86.7%) were in functional class III or IV (NYHA). Twenty three patients had undergone at least one previous cardiac operation. Hospital mortality was 6.02% (5/83). In group II the patients were in functional class III or IV (NYHA). Hospital mortality was 33.3% (2/6). Death occurred in the operating room in only one instance. Follow-up was completed in 98.9% and extended from 27 months to 8 years (348.7 patient years in group I and 23.08 patient years in group II). The overall 5 and 8 years actuarial survival, freedom of thromboembolism and freedom from endocarditis rates in group I were: 80.8 +/- 4.4% and 72.7 +/- 5.2%; 89.8 +/- 4% and 85.8 +/- 4.7%; 94.8 +/- 1.2 and 93.1 +/- 1.7%. In group II, actuarial studies were not carried out because of the scanty number of cases. There were another complications in group I: haemorrhage due to anticoagulation in 6 cases, hemolysis in 8 instances and periprosthetic leaks in 2 cases. There were no cases of structural failure. We conclude that after 8 years of follow-up the M-H valve prosthesis shows an excellent clinical performance and mechanical reliability, and the incidence of valve-related complications was in the low range of that reported with other mechanical prostheses.

[Myocardial revascularization surgery during a developing infarction]. / Cirugía de revascularización miocárdica en el infarto en evolución.

Our results with surgical revascularization for evolving myocardial infarction in 30 patients are analyzed. There were 25 men and 5 women (mean age 55 +/- 10 years), most with unstable angina (80%), which sustained an acute myocardial infarction secondary to either a severe stenosis (23%) or a complete obstruction (77%) of a mayor coronary artery during a diagnostic coronarography (27%) or a percutaneous transluminal coronary angioplasty (73%). The most frequently involved vessels were the left anterior descending and right coronary arteries (11 cases), followed by the left main stem (5 cases) and the circumflex artery (3 cases). Nineteen patients (group I) developed electrocardiographic and/or enzymatic evidence of established myocardial necrosis despite early reperfusion, whereas 11 patients did not (group II). These groups were compared according to different clinical, angiographic, hemodynamic, and operative variables. Group I patients had a more recent disease and a better segmentary contraction. The same variables were compared between the 5 patients with early cardiac death (group III) and the remainder 25 (group IV). Refractory cardiac arrest, jeopardized myocardial mass and coronary perfusion indexes after the infarction-related complication, all were more desfavorable in group III. The ischemic interval between infarction onset and reperfusion was not different between the groups. The potential of surgery for myocardial salvage in the setting of evolving necrosis is emphasized as well as the influence of the magnitude of involved myocardium and its clinical repercussion on early mortality.

[Orthotopic heart transplantation in a patient with previously undiagnosed persistence of the left superior vena cava]. / Trasplante cardíaco ortotópico en un paciente con persistencia de vena cava superior izquierda no diagnosticada previamente.

The amount of transplants has gone through a remarkable increase during the last years. As a result, congenital anomalies of little prevalence appear more and more often while performing the transplants. The persistence of upper cava vein is one of them and, if not linked to other anomalies, it usually remains unnoticed. This article presents a case of an orthotopic cardiac transplant in a patient with an upper cava vein duplication not diagnosed before undergoing surgery, and it compares the way it was handled to diverse techniques previously described.

[Reoperations of myocardial revascularization]. / Reoperaciones de revascularización miocárdica.

UNLABELLED: Coronary by-pass grafting is a well established procedure for ameliorating ischemic coronary disease. From time to time it is necessary to re-operate these patients. The objective of our paper is to present our experience in this field. Retrospective analysis of 128 patients operated on between February 1978 and November 1996, has been analyzed. The mean age was 57.4 +/- 0.7 years. 77.2 +/- 5 months elapsed between operations. Stable angina (20.4%) or unstable angina (76.3%), myocardial infarction (48%) and congestive heart failure (17%) were the predominant clinical manifestations. RESULTS: Hospital mortality was 10.9% (14 patients) and in the follow-up there were 16 deaths (14%). Perioperative myocardial infarction was the main cause of in-hospital mortality. In the follow-up there were 4 deaths due to myocardial infarction and another 4 patients died from neoplasms. Perioperative myocardial infarction was present in 9.3% (12 patients) IN CONCLUSION: a) Re-do coronary by-pass grafting is still a good procedure for solving myocardial ischemia in spite of a higher mortality and morbidity than in the original operation. b) There is no progression in the number of patients according to our experience, probably due to better techniques and the frequent actions by an intervention cardiologist. c) The long-term results are good enough, but with a higher mortality.

[Clinical results of double versus single mammary artery myocardiac revascularization: 15 years of follow-up]. / Resultados clínicos de la revascularización miocárdica con doble arteria mamaria frente a única: 15 años de seguimiento.

INTRODUCTION: Use of the left internal mammary artery to bypass the left anterior descending coronary artery reduces cardiac events and increases survival. However, there is some controversy as to the benefits of using both mammary arteries. OBJECTIVES: To assess the long-term outcome of the use of both mammary arteries in comparison with the use of only one. PATIENTS AND METHOD: A retrospective cohort study with a mean follow-up of 9.0 +/- 4.2 years was performed including 108 patients consecutively revascularized using both mammary arteries (II) and 108 patients randomly chosen in whom one mammary artery (I) was used for this purpose. RESULTS: Both groups were similar. There were no differences between the groups in operative morbidity or mortality. The survival at 10 years was similar (II: 84.61 +/- 4%; I: 85.18 +/- 3.8%), whereas recurrence of angina (II: 29.63 +/- 5.3%; I: 47.55 +/- 5.6%) (p = 0.012), the requirement for percutaneous angioplasty (II: 3.98 +/- 2%; I: 12.99 +/- 4.1%) (p = 0.009) and cardiologic events (II: 33.48 +/- 5.5%; I: 48.48 +/- 5.5%)(p = 0.022) were all lower in the group in which both mammary arteries were used. In the multivariate analysis, the use of both mammary arteries was an independent protective factor against angina recurrence (RR = 0.55), angioplasty (RR = 0.18) and cardiologic event (RR = 0.60). CONCLUSIONS: The use of both mammary arteries for revascularization does not increase operative morbidity. Since this procedure acts as an independent factor against angina recurrence, angioplasty and cardiologic event

Granular-cell tumours: an immunohistochemical study.

The granular cell tumour (myoblastoma, Abrikosoff's tumour) and the congenital epulis in newborns (Neumann tumour) are two lesions rarely found in the oral cavity, whose histogenetic origin is highly controversial. This work analyses using immunohistochemical techniques 15 cases of myoblastomas and two of congenital epulis with different mono- and poly-clonal antibodies. Positive immunostaining was found for S-100 protein and neuron-specific enolase in all the cases of myoblastoma, and for vimentin and carcinoembryonic antigen in some cases. No immunoreactivity was observed for any of the other 13 antibodies used in congenital epulis.

Stafne bone cyst. Revision of four cases, one of them with bilateral affectation.

Stafne bone cyst of the mandible is the only described destructive bone lesion that is highly localized, nonprogressive, but nonhealing. Such defects usually occur unilaterally, however, bilateral defects are occasionally reported. This paper reports 4 cases of Stafne's bone cyst, one of which showed bilateral presentation. Only four previous cases of bilateral Stafne bone cyst have been reported in the literature. The bibliography is reviewed with regard to the incidence, plausible etiologic factors and methods of diagnosis of such lesions.

Central epithelial odontogenic ghost cell tumour. A case report.

Central epithelial odontogenic ghost cell tumour, a neoplastic variant of calcifying odontogenic cyst, is a rare lesion with a very few cases published in the English literature. Histologically, the tumour consists of clusters of infiltrating odontogenic epithelium and ghost cells in varying numbers. We describe the first case of central epithelial odontogenic ghost cell tumour occurring in a pregnant woman and in which determination of bone densitometry in the preoperative panoramic radiographs has been performed. We have reviewed the literature available in English and compared it with our case.

[Involvement of the submadibular region in epidermoid carcinoma of the mouth floor. Prospective study of 31 cases]. / Coinvolgimento della regione sottomandibolare nel carcinoma epidermoide del pavimento orale. Studio prospettico di 31 casi.

BACKGROUND: To evaluate the primary or secondary involvement of the submandibular gland in floor of mouth squamous cell carcinoma. METHODS: An analytic-observational study of prospective type was carried out on 31 patients operated for floor of mouth carcinoma, between June 1993 and January 1996, in a reference hospital for a population of 1,100,000 inhabitants. The investigated variables were: age, sex, tumor localization, clinical TNM, type of cervical surgery, evolution, number of positive cervical metastasis, state of the submandibular gland and presence of the periglandular metastasis. The follow-up period was about 48 to 76 months. The exact Fischer test was used for the statistical study. RESULTS: Histopathological examination identified cervical metastasis as 34.1% of the ipsilateral neck dissections. The average number of positive nodes was 3 (range: 1-9). Cervical periglandular metastases were found in 31.7% of neck dissections, but in no case was microscopic affectation of the submandibular gland found. The existence of intraglandular positive nodes was not found either. In our study, the sensibility and specificity of the clinical exploration of the submandibular region were high (84% and 88% respectively). The presence of cervical metastasis and the size of the tumor conditioned the appearance of recurrences. CONCLUSIONS: In accordance with our study, periglandular metastases in carcinoma of the floor of mouth, are frequent, but submandibular gland involvement is unusual.

[Myocardial revascularization: isoflurane and halothane. Our experience]. / Revascularización miocárdica: isofluorano y halotano. Nuestra experiencia.

The use of isofluorane in coronary patients has been questioned due to the coronary steal syndrome that this agent is said to produce with changes in the myocardial lactate extraction, ST segment changes or T wave inversion. Three hundred fifty nine patients underwent coronary revascularization were studied. The anaesthesia was carried out with halothane (146 patients) or isofluorane (213 patients) as volatile agents of a balanced anesthetic technique based on high doses of narcotics. We found no correlation between the use of isofluorane and ST changes or T wave inversion. The appearance of myocardial infarction between the 2 groups was also no statistically difference (p = 0.61).

[Cervicofacial actinomycosis]. / Actinomicosis cervicofacial.

Actinomycosis is an infectious disease that appears throught the world, in cattle and human beings. It is a chronic granulomatous and suppurative lesion, usually affecting the cervicofacial area. Definitive diagnosis, by culture or biopsy, is not always possible, so the clinician must suspect it by its clinical presentation. It is the purpose of this article to present the patients diagnosed and treated in our Department during the last 5 years, and to review the ideal therapy.