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Biomedical subjects

E Cacciari

Publications and source records attributed to E Cacciari.

At least 37 records · Page 2Linked to original sources
PubMed1989

Clinical and laboratory features of homocystinuria.

Classic homocystinuria is an autosomal recessive metabolic disease due to a cystathionine-beta-synthase deficiency with consequent blocking of homocysteine and serine condensation for producing cystathionine. The characteristic biochemical abnormalities in the blood and urine are: abnormal accumulation of methionine, abnormal presence of homocystine and low values of cystathionine, cysteine or cystine (disulfide of the cysteine). The most frequent clinical signs are: subluxation of the lenses, mental retardation of different degrees, long bones excessively lengthened, scoliosis, susceptibility to arterial and venous thromboembolism. The latter is frequent after surgery, and may be life-threatening. This disease must be differentiated from Marfan's syndrome via laboratory tests.

Diagnosis, Differential↗
PubMed1989

Effect of gonadectomy on growth hormone, IGF-I and sex steroids in children with complete and incomplete androgen insensitivity.

IGF-I, testosterone and estradiol levels were evaluated in 8 girls with androgen insensitivity immediately before and from 1 to 3 months after bilateral gonadectomy. In 6 patients GH secretion was evaluated before and after gonadectomy by means of an arginine test and in 3 a sleep test was also performed. Mean IGF-I level before surgery was significantly higher than that of normal controls (2850 +/- 1230 vs 1680 +/- 1040 U/l, p less than 0.025). After gonadectomy a significant decrease was evident for testosterone, estradiol and IGF-I levels. A positive correlation between IGF-I and estradiol levels was present before surgery (p less than 0.005). The presence of a correlation with estradiol, but not with testosterone, and the knowledge that this syndrome is due to an insensitivity to androgens, but not to estradiol, support the hypothesis that the estradiol level is the major determinant for the control of IGF-I values in these patients. After gonadectomy, a substantial decrease of the 12-h nocturnal GH secretion was evident. Comparison of the nocturnal GH levels before surgery of the 3 patients with those of normal subjects of the same age showed hormonal values higher than 1 SD over the mean values of control subjects. Even if the number of patients studied is too small to draw any definitive conclusion, these data may suggest that sex hormones play a role in the control of IGF-I levels, a function which seems to be mediated through GH secretion.

Adolescent↗
PubMed1989

Growth and sport.

In order to investigate sport's influence on growth during puberty, we examined 398 boys 10-16 yr old. 192 of these subjects had been playing football as a competitive sport, and 206 were considered as controls, having never practised sports regularly. Both groups were divided into prepubertal (with testicular volume less than or equal to 2.5 cc) and pubertal, with the latter further divided into the following chronological and bone age groups: 10-11.99, 12-13.99, 14-16 yr. In these subjects we evaluated auxological-anthropometric and biological maturity characteristics and endocrine parameters (cortisol, dehydroepiandrosterone sulphate, testosterone). No significant difference was found between prepubertal athletes and controls concerning anthropometric and biological maturation parameters, whereas testosterone basal levels were significantly lower (p less than 0.05) and DHEAS values were significantly higher (p less than 0.05). Pubertal football players were significantly taller than controls (particularly at 14-16 yr chronological age), with a greater biacromial diameter after 12 yr chronological and bone age and thinner skinfolds at 12-13.99 chronological and bone age. They were more advanced in all biological maturation parameters i.e. pubic hair, testicular volume and bone age, particularly those subjects playing football for the greatest number of years and training time. In pubertal football players the increase in DHEAS (p less than 0.05) already seen in prepubertals is also combined with a significant increase in testosterone (p less than 0.0001) and cortisol (p less than 0.05). Thus football players DHEAS is already higher during prepuberty and this increase chronologically precedes the advance in all the auxological-maturative parameters typical of our pubertal subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1988

Bronchial reactivity in diabetic patients. Relationship to duration of diabetes and degree of glycemic control.

Bronchial reactivity was studied via carbachol testing in 46 patients affected by type 1 diabetes mellitus and in 30 control subjects and via exercise testing in 55 diabetic patients and 60 control subjects. In all subjects, reactivity to skin allergen tests, the existence of atopic illnesses, and family history for these diseases were evaluated. Diabetic patients were less affected by asthma than control subjects, although their family history of atopy is greater. Bronchial reactivity, as expressed by the results of carbachol testing, was lower in diabetic patients than in control subjects. Furthermore, the duration of disease in diabetic patients was positively correlated with the results of carbachol testing. Reduced bronchial reactivity might be an indication of initial damage to the autonomic nervous system, which would thus appear to be both a complication and a protective factor.

Adolescent↗
PubMed1988

Differential effects of 18- and 24-Gy cranial irradiation on growth rate and growth hormone release in children with prolonged survival after acute lymphocytic leukemia.

To evaluate the effects of two different doses of cranial irradiation on growth and growth hormone (GH) release, we studied 61 children with acute lymphocytic leukemia who had survived at least five years in continuous complete remission. Forty-three children received 24 Gy (group 1) and 18 children received 18 Gy (group 2). Height was evaluated at diagnosis, at the end of treatment, and 6, 12, and 24 months later. Growth hormone release was evaluated by arginine and levodopa tests after the end of treatment. After diagnosis, the height SD score decreased significantly in both groups; two years after the end of treatment, only group 1 showed an SD score for height that was still significantly lower than at diagnosis. Group 1 showed impaired GH responses to the tests and, compared with controls, group 1 in fact included a percentage of subjects with a normal response to levodopa (ie, greater than 8 micrograms/L) that was significantly lower (56.4% vs 83.3%) and a percentage of nonresponders to both tests that was significantly higher (21.6% vs 0%). These data indicate that only patients treated with lower cranial irradiation dosage (18 Gy) had complete growth recovery and normal GH responses to pharmacologic tests.

Arginine↗
PubMed1988

Differences in carbohydrate tolerance in Turner syndrome depending on age and karyotype.

Carbohydrate homeostasis was evaluated in 47 girls with Turner syndrome and in 25 "short normal" girls by means of an oral glucose tolerance test. Of the Turner patients 34% showed an impaired glucose tolerance vs 8% of the controls (chi 2 = 5.9, P less than 0.05). Mean glucose levels were significantly higher and mean insulin levels and insulinogenic index significantly lower in young Turner patients aged 5-12 years but not in adolescents aged 12-16 years. In both groups of patients, insulin levels and the insulinogenic index were significantly lower than those of the controls. In Turner patients between 12 and 16 years, carbohydrate tolerance improved and this may be explained by the lack of oestrogen release in these patients. Glucose tolerance was normal in patients with mosaicism. We conclude that (1) carbohydrate tolerance is defective in young children with Turner syndrome but improves in puberty due to the almost complete absence of oestrogen-progestogen secretion; (2) a difference in carbohydrate tolerance is evident depending on karyotype.

Adolescent↗
PubMed1988

Haemorheologic and fibrinolytic evaluation in obese children and adolescents.

The haemorheologic condition was evaluated in 43 obese children and 35 controls. In 18 of the obese children and in 21 controls the euglobulin lysis time (ELT) was also studied. Blood viscosity at 94.5 and at 0.204 s-1 shear rates, plasma viscosity, fibrinogen and erythrocyte filtration time were significantly higher in obese than in control children. No significant differences were observed in haematocrit levels. Triglycerides, non-esterified fatty acids (NEFA), pre-beta-lipoprotein and insulin rates were all significantly higher in obese than in control children. There were no significant differences in glycaemia and in haemoglobin A1 values. ELT, both basal and after stimulation with 1-deamino-8-D-arginine-vasopressin (DDAVP), was significantly higher in the obese than in control children. The haemorheologic disturbances together with alterations of the haemostatic balance and fibrinolysis may be an important risk factor for the development of vascular changes at paediatric age.

Adolescent↗
PubMed1988

Breast contact thermography for differentiation between premature thelarche and true precocious puberty.

Breast contact thermography was used to differentiate between premature thelarche and true precocious puberty. The technique was applied to 10 girls with premature thelarche, 12 with precocious puberty and 105 controls (Tanner B1-5). In controls, the scores attributed to the maturative thermographic signs correlated with breast development stages. In premature thelarche thermographic signs of vascularization were always absent, while in precocious puberty they were always observed, although in some cases unilaterally. The thermographic index (higher total score between the two breasts) ranged from 0 to 3 in girls with premature thelarche and from 4 to 10 in girls with precocious puberty. The thermographic pattern in premature thelarche was similar to that in prepubertal girls and did not progress in two girls who were repeatedly examined. We emphasize the useful role of contact thermography in evaluating pubertal breast development and in differentiating between premature thelarche and true precocious puberty.

Age Determination by Skeleton↗
PubMed1988

Growth hormone evaluation in Duchenne muscular dystrophy.

Growth hormone (GH) release with pharmacological tests and sleep test, somatomedin C and auxological features were studied in 10 patients affected by Duchenne Muscular Dystrophy. GH release in these patients seems to be lower than normal; moreover some of them are of short stature without an evident relationship with GH deficit. The possible significance of the data obtained is discussed, particularly in relation to the clinical course of the disease, and to current therapeutic trials with a GH release inhibitor (mazindol).

Arginine↗
PubMed1988

Pelvic ultrasonography in girls with precocious puberty, congenital adrenal hyperplasia, obesity, or hirsutism.

Real-time ultrasonography of the pelvic organs was performed on 151 girls with various complete and incomplete forms of precocious puberty, 20 girls with congenital adrenal hyperplasia, 20 with hirsutism, 18 with obesity, and 133 age-matched normal girls. Uterine and ovarian volumes were calculated and the ovarian morphologic picture was classified as homogeneous, nonhomogeneous (less than three small cystic areas), microcystic (four or more small cystic areas less than 9 mm in diameter), follicular (at least one cystic area greater than 9 mm), and macrocystic (large cystic area greater than 20 mm). Ultrasound imaging allowed an easy distinction between true precocious puberty and premature thelarche or idiopathic premature adrenarche. It was also helpful in the diagnosis of transient sexual precocity, although in these cases the differential diagnosis of precocious puberty can be difficult. In postmenarcheal patients with congenital adrenal hyperplasia, ultrasound study showed a low uterine volume and, frequently, a macrocyst in the ovary. In hirsute girls and in a few obese patients, ovaries had an increased volume and a microcystic structure, similar to those in polycystic ovary syndrome. Pelvic ultrasonography can be useful not only in diagnosing disorders in sexual development but also for greater understanding of the pathogenesis of these and other disorders.

Adrenal Hyperplasia, Congenital↗
PubMed1988

Neuroendocrinological evidence of an anti-dopaminergic effect of flunarizine.

The effect of a one month treatment with flunarizine (5 mg/day) on pituitary responsiveness to gonadotrophin-releasing hormone (GnRH), thyrotrophin-releasing hormone (TRH) and arginine infusion was assessed in 17 adolescents (11 M, 6 F) treated with the drug to prevent migraine attacks. Basal prolactin concentrations as well as the prolactin response to TRH were significantly (p less than 0.05) increased after flunarizine treatment. Flunarizine had no effect on the folliclestimulating and luteinising hormone response to GnRH stimulation, growth hormone response to arginine infusion or thyrotrophin response to TRH stimulation. Our data suggest that flunarizine may interfere with the hypothalamic-pituitary-prolactin axis decreasing dopaminergic inhibitory tonus.

Adolescent↗
PubMed1988

Heart disease in Turner's syndrome.

Fifty-five consecutive patients with Turner's syndrome and different karyotypes underwent full cardiological evaluation (physical examination, electrocardiogram, chest X-ray and echocardiogram). Congenital heart disease was found in 17%. When compared with the general population, a significantly higher incidence was present only for aortic coarctation and partial anomalous pulmonary venous drainage (p less than 0.001). Among cardiac anomalies in Turner's syndrome patients, aortic malformations (aortic coarctation, aortic stenosis, bicuspid aorta) are the most frequent, followed by partial anomalous pulmonary venous drainage, the incidence of which has been much higher than that previously reported. We have observed that the most severe malformations are preferably found in 45,X, while the ring pattern is characterized by a very high incidence of bicuspid aorta. No anomaly was found in the patients with X isochromosome.

Adolescent↗