Genetic expression of Wilson's disease in cell culture: a diagnostic marker.

Wilson's disease fibroblasts have an elevated intracellular copper concentration as compared to cultured control cells. A decreased ratio of copper to protein was observed in cytoplasmic protein (or proteins) having a molecular weight greater than or equal to 30,000 in Wilson's disease cells. The results of this culture study indicate its potential importance in the early unequivocal diagnosis of this disorder.

Internal mammary artery graft: retrospective report with 17 years' survival.

This report describes one of the earliest cases of successful internal mammary artery grafting. A left internal mammary-right coronary artery titanium stent anastomosis was performed on Jan. 5, 1968, at Allegheny General Hospital. Repeated cardiac catheterization 2 weeks, 6 months, and 6 years after the operation showed a patent anastomosis. The patient survived over 17 years after the operation.

A thirteen-year review of the Magovern-Cromie aortic valve.

A review of 375 cases of aortic valve replacement with the Magovern-Cromie sutureless prosthesis demonstrated a 43 per cent survival rate 10 to 13 years following the operation. Of the 308 patients surviving zero to 30 days, 238 patients are alive after one to 14 years. A total of 70 patients (22 per cent died during the 14 year follow-up period. The actuarial survival rate of all patients at risk was 64 per cent at the fifth year and 51 per cent at the tenth year. For those patients who lived at least one year after surgery, the probability of survival was 84 per cent and 70 per cent at 5 and 10 years, respectively. These results compare favorably with reports of up to only 8 years with the Smeloff-Cutter and Starr-Edwards prostheses. There was only a 1.5 per cent incidence of perivalvular leak with this method of fixation, and no valve has migrated. Ball variance has not occurred with any valve inserted since 1964, and the incidence of thromboembolism with the Model A4 prosthesis is 2.4 per cent. Improvement in results depend on reduction of thromboembolism, lessening of late and operative morality rates, and by earlier operative intervention to reduce the late deaths from cardiogenic factors.

Familial myxomas in four siblings.

Familial myxomas of the heart are very rare, with only two previous reports noted in the literature. This report documents four siblings with myxomas, and three of these patients had two or more myxomas. One sibling had four myxomas excised. The clinical findings, history, examination, and surgical treatment are described.

Preliminary clinical experience with a new radioisotope-powered cardiac pacemaker.

A small light-weight nuclear-powered pacer has been developed. The pulse generator weight 61 Gm. and occupies a volume of 33 sq. cm. It is a standard R-wave inhibited (VVI) demand pulse generator. The unit has met all United States and foreign atomic energy commission safety specifications including mechanical shock, industrial fire, accidental crush, cremation, impact, and corrosion. Its calculated life is in excess of 20 years. The unit has been shown to be insensitive to electromagnetic interference (EMI) over a wide range of commonly encountered sources of interference. An extensive dog testing program has been carried out and is continuing. The United States Atomic Energy Commission (AEC) has issued a license to conduct clinical trials. These began in October, 1974, and a total of 30 units of 30 units have been implanted so far. An equal number of chemical battery-powered pulse generators has been implanted in a control series of 30 patients. Preliminary results have been gratifying.

Polyamine metabolism in Menkes kinky hair disease.

Clinical investigations of the urinary excretion of putrescine and the polyamines spermidine and spermine in a patient with Menkes kinky hair disease are reported. This disorder, characterized by intra- and extracellular copper deficiency, is associated with significant depression of diamine oxidase and monoamine oxidase activity. Urinary excretion of diamine and polyamines, monitored over a 2-month interval in a 4-month old patient with Menkes kinky hair disease, documented a 3- to 10-fold increase in the excretion of free putrescine, spermidine and spermine as well as the conjugated derivatives of putrescine and spermidine. These observations suggest that abnormalities in diamine and polyamine concentration occur in disease states in which the metabolic transformation of these compounds is impaired.

Intravenous streptokinase therapy for acute myocardial infarction in a community hospital: effect on ventricular function and mortality.

Streptokinase can dramatically impact upon management of myocardial infarctions in community hospitals. When given by experienced personnel during the first six hours after onset of symptoms, streptokinase is associated with a high patency rate, improved left ventricular function, and reduced mortality. Careful screening of patients results in a low complication rate with infrequent serious bleeding. Streptokinase should be utilized in those hospitals without cardiac catheterization facilities, but in light of the relatively high incidence of recurrent pain (15.8%), transfer of stable patients to a facility with a catheterization laboratory should be carried out within 24 to 72 hours. As approximately 60% of patients will require PTCA, CABG, or both, diagnostic cardiac catheterization should be considered in all patients unless there are other mitigating factors.

Carotid sinus syndrome: new surgical considerations.

1. Direct surgical denervation of the carotid sinus would appear to offer the best long-term results for carotid sinus syncope. 2. Carotid sinus denervation should be done under temporary cardiac pacing for safety and for completeness of denervation. 3. Arteriography is indicated to eliminate those cases of cerebral vascular insufficiency that might mimic carotid sinus syndrome. Credit must be given to Dr. R. Hughes, Clearfield, Pa., who recognized this diagnosis and referred the patient for therapy.

Copper and ceruloplasmin activity in human amniotic fluid.

The variation in the level of copper and ceruloplasmin oxidase activity in human amniotic fluid from 20 weeks' gestation to term was reported. The protein content of amniotic fluid decreased toward term. A definite decreasing trend of concentration of copper, expressed both as nanograms of copper per milliliter of amniotic fluid and nanograms of copper per milligram of protein, was also observed from midgestation toward term. Ceruloplasmin, on the other hand, demonstrated a significant increase from the period 20 38 weeks' gestation, with a subsequent decline after 38 weeks.