Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using eight short tandem repeat microsatellite markers. In addition, we analyzed the informativeness of these markers in the normal Brazilian population. The duplication was found in 12 members of the family. In two patients with CMT1A symptoms, the duplication was not detected, and one asymptomatic subject showed the duplication. D17S2230, D17S9B, D17S2220, D17S2227, D17S9A, and D17S4A markers showed the highest heterozygosity rates, and D17S2228 and D17S2224 markers were the least informative in our analysis.

Determination of regurgitant fraction in isolated mitral or aortic regurgitation by pulsed Doppler two-dimensional echocardiography.

Measurements of mitral and aortic valve flows were obtained with two-dimensional Doppler echocardiography in 25 patients with isolated mitral (n = 19) or aortic (n = 6) regurgitation and regurgitant fraction was calculated as the difference between the two flows divided by the flow through the regurgitant valve. Results were compared with measurements of regurgitant fraction determined by combined left ventricular angiography and thermodilution. Regurgitant fraction averaged 56 +/- 18% (range 19 to 79) by Doppler echocardiography and 48 +/- 17% (range 13 to 72) by angiography. A significant correlation was observed between the two methods (r = 0.91; SEE = 7%). In contrast, no significant correlation was found between regurgitant fraction measured by either method and the angiographic 1+ to 4+ qualitative classification of regurgitation. Doppler echocardiography appears to be an accurate method for the non-invasive quantification of severity of regurgitation in isolated left-sided valve lesions.

Relation of Doppler-derived left ventricular filling parameters to age and radius/thickness ratio in normal and pathologic states.

Transmitral diastolic inflow velocities determined by Doppler echocardiography have been shown to reflect left ventricular (LV) filling rates, and are therefore dependent on ventricular compliance. Radius to wall thickness ratio is an index of cavity to wall volume ratio, an important determinant of LV compliance. Accordingly, Doppler measurements of mitral anulus peak early diastolic velocity, peak atrial velocity and atrial filling fraction were made in 25 normal control subjects, mean age 46 years (range 28 to 75), and 29 patients with dilated cardiomyopathy or concentric LV hypertrophy, mean age 54 years (range 12 to 78). In addition, radius/thickness ratio was determined by 2-dimensionally guided M-mode recordings of the left ventricle. In the normal group, peak early velocity, the ratio of early to atrial velocity and atrial filling fraction correlated with age (r = -0.905, -0.823 and 0.810, respectively), but not with radius/thickness ratio. In the group with LV hypertrophy or dilatation, peak early velocity, ratio of early to atrial velocity and atrial filling fraction correlated with radius/thickness ratio (r = 0.625, 0.752 and -0.631, respectively), but not with age. Thus, with normal aging, early LV filling is reduced and atrial systole is augmented, probably reflecting intrinsic alterations in myocardial stiffness with age. In chronic LV disease, changes in radius/thickness ratio and, consequently, in chamber stiffness, influence early filling directly and atrial filling inversely, overriding the effects of age. Age-related standards are needed, however, to evaluate individual effects of a disease process on LV filling dynamics by Doppler.

[Clinical significance of anomalies of renin secretion in arterial hypertension]. / Significato clinico delle anomalie di secrezione reninica nella ipertensione arteriosa.

Aim of the present investigation is to define the clinical meaning of disorders in renin secretion in the field of vascular hypertensive diseases. In view of this scope, we report the results of a retrospective study on the levels of plasma renin activity assayed in renal veins, aorta and peripheral vein of 124 hypertensive, angiographically studied for a diagnostic work-up. The behavior of renal vein renin has been related to epidemiologic, clinical and etiopathogenetic factors. Results indicate that disorders in renin secretion occur in every type of arterial hypertension. However, some disorders are prevalent in a determined type of hypertensive disease. The incidence of disorders in renin secretion is different in relation to sex, age and duration of hypertension. Hypersecretion is prevalent in men and young hypertensives, while hyposecretion of renin is more frequent in the oldest hypertensive patients. Vascular damage is prevalent in men and young hypertensives, while hyposecretion of renin is more frequent in the oldest hypertensive patients. Vascular damage is prevalent in renin hyposecretive hypertensives. Hypersecretion and lateralization in renin release can be mainly encountered in the renovascular type of hypertension and, less frequently, in unilateral nephroparenchymal hypertension. However, totally lateralized hypersecretion can be detected even in essential hypertensive patients suggesting the possibility of false positives for the diagnosis of renovascular hypertension.

[Cigarette smoking and hormonal changes in the course of the menstrual cycle]. / Fumo di sigaretta e modificazioni ormonali nel corso del ciclo.

ACTH, cortisol and PRL plasma levels were determined on day 7, 14, and 21 of the menstrual cycle in 20 females with hypertrichosis of whom 10 were smokers and 10 non-smokers. Significantly raised levels of all hormones considered were found in smokers throughout the cycle. These findings suggest a possible relationship between objective symptoms (hypertrichosis) and nicotine, mediated by complex changes in the endocrine pattern and presumably also due to the action of nicotine on the central nervous system.

Medical facility life cycle investment strategy.

This document discusses a health care investment strategy developed by the military. It is based from a survey conducted of both private and military facilities. The document provides techniques to help determine a medical facility's life cycle cost.

[Changes in the levels of ACTH and cortisol after passive exposure to cigarette smoke in smokers and non-smokers]. / Modificazioni dei livelli di ACTH e cortisolo dopo esposizione passiva al fumo di sigaretta in fumatori e non fumatori.

Plasma ACTH and cortisol levels were studied in smokers and non smokers, (exposed or not to smoke of the environment), after passive exposure to cigarette smoking. Non smokers, usually not exposed to smoke, show a rise in both hormones, whereas smokers and non smokers commonly exposed to smoke don't show any change in ACTH and cortisol levels. These data suggest that nicotine acts as an acute stimulus on the hypophysis-adrenal axis even passively inhaled.

[Oral administration of nicotine and plasma levels of ACTH and cortisol in smokers and non-smokers]. / Somministrazione orale di nicotina e livelli plasmatici di ACTH e di cortisolo in fumatori e non fumatori.

Plasma ACTH and cortisol levels after oral administration of nicotine (chewing gum containing nicotine 2 mg) in short and long time (10 and 45 min) were studied in smokers and non smokers. Non smokers after short time administration showed significant rise in ACTH and cortisol. No modifications were seen in the other groups of subjects. These data confirm that nicotine stimulates hypophysis-adrenal axis in non smokers and that this effect is connected with nicotine contents of cigarettes rather than other volatile substances.

[ACTH and cortisol after cigarette smoke exposure during the dexamethasone suppression test in smokers and non-smokers]. / Studio dell'ACTH e del cortisolo dopo fumo di sigaretta, nel corso della prova di inibizione con desametasone, in fumatori e non fumatori.

In this research the effect of nicotine, (smoke of cigarette), was studied in smokers and non smokers during dexamethasone inhibitory test (1 mg h 23.00). ACTH and cortisol plasma levels, physiologically suppressed at 08.00, increased, after 30 min from smoking, only in group of non smokers. These data suggest that nicotine, in non smokers, could induce a maximum stimulus on diencephalic structures, so to overcome the inhibition of dexamethasone.

[Effect of smoking on the hypophyseo-adrenal axis]. / Effetto del fumo sull'asse ipofisi-surrene.

Plasma concentrations of adrenocorticotrophin (ACTH) and cortisol were measured during insulin-induced hypoglycemia and lysin-8-vasopressin (LVP) test in 60 healthy subjects, non-smokers and habitually smokers of 10 or more cigarettes/24 hours. A marked and statistically significant rise of both hormones was found in non-smoker subjects, whereas smokers showed poor and not significant modifications. These results suggest that continuous chronic inhalation of nicotine may act as a powerful stimulus on the hypothalamo-hypophyseal structures that control the hypothalamic CRF and/or ACTH production and release. Central nervous mechanisms of hormonal regulation may become less sensitive and efficient when an acute rise of ACTH is required, as during stimulating tests. Our investigation confirms that cigarette smoking is heavily responsible of endocrine disorders, in particular of hypophyseal-adrenal axis.