Biomedical subjects

A Susmano

Publications and source records attributed to A Susmano.

6 recordsLinked to original sources

PubMed1991

Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency with less than 2% of normal enzyme activity is characterized by neurological abnormalities, atherosclerotic changes, and thromboembolism. We have discovered a "new" variant of MTHFR deficiency which is characterized by the absence of neurological abnormalities, an enzyme activity of about 50% of the normal value, and distinctive thermolability under specific conditions of heat inactivation. In this study, lymphocyte MTHFR specific activities in the thermolabile variant and control groups were 5.58 +/- 0.91 and 10.33 +/- 2.89 nmol formaldehyde formed/mg protein/h, respectively. The difference was significant (P less than .01). However, there was overlap among the individual values from the two groups. On the other hand, residual MTHFR activity after heat inactivation was 11.2 +/- 1.43% in the thermolabile variant and 36.3 +/- 5.18% in the controls. There was no overlap. Enzyme studies in 10 subjects with thermolabile MTHFR and their family members support the hypothesis that thermolabile MTHFR is inherited as an autosomal recessive trait. To elucidate the association of thermolabile MTHFR with the development of coronary artery disease, we determined the thermostability of lymphocyte MTHFR in 212 patients with proven coronary artery disease and in 202 controls without clinical evidence of atherosclerotic vascular disease. Thermolabile MTHFR was found in 36 (17.0%) cardiac patients and 10 (5.0%) controls. The difference in incidence between the two groups was statistically significant (P less than .01). The average age at onset of clinical coronary artery disease in 36 patients with thermolabile MTHFR was 57.3 +/- 7.6 years (35-72 years). The mean total plasma homocysteine concentration in patients with thermolabile MTHFR was 13.19 +/- 5.32 nmol/ml and was significantly different from the normal mean of 8.50 +/- 2.80 nmol/ml (P less than .05). There was no association between thermolabile MTHFR and other major risk factors. We conclude that thermolabile MTHFR is a variant(s) of MTHFR deficiency which is inherited as an autosomal recessive trait. In addition, it is positively associated with the development of coronary artery disease. Determination of in vitro thermostability of lymphocyte MTHFR is a reliable method for identifying subjects with this abnormality.

Adolescent↗

PubMed1990

Giant cell arteritis of the breast. A unique syndrome.

A 58-year-old woman had a unilateral, solitary breast lesion determined by biopsy to be due to giant cell arteritis. Clinical, laboratory, and pathological findings in this patient and in other patients reviewed from the literature revealed that characteristically patients with giant cell arteritis of the breast have (1) tender unilateral or bilateral nodules at times mimicking breast carcinoma; (2) significant constitutional symptoms of anorexia, weight loss, myalgias, fever, and arthralgias; (3) marked elevation of the erythrocyte sedimentation rate; (4) normal or mildly decreased hemoglobin values and normal or slightly elevated leukocyte counts; (5) normal temporal artery biopsy findings; (6) rare organ involvement; and (7) rapid improvement after prednisone therapy or frequent spontaneous resolution. This mode of presentation suggests features of a unique syndrome since many patients had no systemic involvement, require no treatment at all, and had a self-limited clinical course.

Arteries↗

PubMed1979

Value of treadmill exercise testing in patients with complete bundle branch block.

Exercise electrocardiography and selective coronary arteriography was performed in 24 consecutive patients with complete bundle branch block. The criteria for a positive exercise electrocardiogram (E-ECG) were a 1 mm depression or elevation in the J point from the control state, as well as in the ST-segment measured at 0.04 seconds from the J point. Eleven of 12 patients with complete left bundle branch block had a positive E-ECG. Nine of them had normal coronary arteriograms, except one with less than 50% lesions in two arteries. Two patients had severe three-vessel disease. Only one patient had a true negative exercise test. No patient had a false negative test. Nine of 12 patients with complete right bundle branch block had a positive E-ECG. One of these 9 had minimal nonobstructive disease, while the other 8 had severe two- or three-vessel coronary artery disease. Three of the 12 right bundle branch block patients had a negative E-ECG. Two of them had a true negative exercise test, and one a false negative test. Because of a high incidence of probably false positive results, E-ECG appears to be unreliable in detecting coronary artery disease in patients with complete left bundle branch block. But it can provide useful information in the noninvasive evaluation of coronary artery disease in patients with complete right bundle branch block.

Adult↗

PubMed1978

The "false negative" treadmill exercise test and left ventricular dysfunction.

One hundred and fifteen consecutive symptomatic patients undergoing graded exercise testing, selective coronary angiography and left ventriculography were retrospectively evaluated. The sensitivity, specificity, and false negative response rates of the exercise tests were 79%, 81%, and 21%, respectively. Although the magnitude of a positive ST-segment response was related to more extensive vascular disease, the frequency of false negative responses was nearly identical in patients with single, double, or triple vessel disease (22%, 21%, 19%). Analysis of the false negative group demonstrated significant ventriculographic and hemodynamic abnormalities when compared to the true positive responders. Five out of six patients with the most serious motion disorders in the study fell into the false negative group. There were no significant differences in the extent, distribution and severity of vascular involvement, or in the development of collateral circulation in the two groups. However, occluded vessels supplied abnormal ventricular segments more frequently in the false negative group (88% vs 38%); the absence of an "ischemic response" and the presence of segments of abnormal myocardium may be related. Left ventricular dysfunction appears to be an important reason for a false negative response to exercise.

Angiography↗

PubMed1978

Abnormal pulmonic sound during acute massive pulmonary embolism.

The findings in two patients with angiographically proven massive pulmonary embolism and with clinical and phonocardiographic evidence of abnormal respiratory movement of the pulmonic sound are reported. One patient with complete right bundle-branch block and another with normal conduction had a wide and fixed split second sound with a loud pulmonic component. Both patients had a moderate degree of pulmonary hypertension. Approximately two weeks after administration of heparin, the pulmonic sound moved normally during respiration in both patients. Thromboembolic pulmonary hypertension regressed in one patient and remained unchanged in the other. Changes in impedance through the large pulmonary arteries are are postulated to be responsible for the abnormal movement of the pulmonic valve during both phases of respiration. Wide expiratory splitting of the second sound should be an important clue in the diag nosis of acute massive pulmonary embolism, and the reappearance of a normal inspiratory splitting could be used at the beside to assess indirectly the rate of resolution of the blood clots.

Acute Disease↗

PubMed1977

Mechanisms of hypercapneic pulmonary hypertension.

The mechanisms and potential mediator of hypercapneic pulmonary hypertension are incompletely understood. We studied 18 dogs, anaesthetised and spontaneously breathing both room air and after the inhalation of a gas mixture containing 10% CO2, 20.9% O2, and 69.1% N2, to determine the role of histamine, serotonin, and acidaemia in pulmonary hypertension produced by hypercapnia. Hypercapnia increased the mean pulmonary artery pressure by 0.33 kPa (2.5 mmHg) while wedge pressure and pulmonary arteriolar resistance did not change. Cardiac output significantly increased, indicating that the pulmonary hypertensive effect of hypercapnia is mainly flow related. Neither chlorpheniramine nor methysergide had significant effects on hypercapneic pulmonary hypertension. The infusion of sodium bicarbonate corrected the pH; pulmonary artery pressure and cardiac output increased while pulmonary arteriolar resistance dropped, suggesting that the increased cardiac output masked the effect of pH on pulmonary arteriolar resistance. The lack of effect of chlorpheniramine or methysergide on pulmonary resistances indicates that the vasoconstrictive effect of increased hydrogen ion concentration which accompanies hypercapnia is attributable neither to histamine nor to serotonin release.

Animals↗