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E Cacciari

Publications and source records attributed to E Cacciari.

At least 91 records · Page 5Linked to original sources
PubMed1983

How many cases of true precocious puberty in girls are idiopathic?

Fifteen girls with true precocious puberty were examined by computerized tomography. In seven hypothalamic hamartomas were suspected. A pneumoencephalogram was performed in six cases (one patient refused), with the following results. In five, the radiological features were highly suggestive of tuber cinereum hamartoma. All of our patients with pubertal signs appearing before the age of 2 years and 80% of the girls with early menstruation were in the group with suspected hamartoma. The luteinizing hormone and follicle-stimulating hormone levels of these five girls were significantly higher than those observed in the other girls with idiopathic precocious puberty. We conclude that there is a high frequency of small hypothalamic masses (suspected hamartoma) in girls with true precocious puberty (33% of the patients in our group), that it is important to confirm the presence of the mass with pneumoencephalography, and that surgery for diagnostic and therapeutic purposes should be carefully considered, given the absence of any neurologic symptoms for a long time after the appearance of the first pubertal signs.

Child↗
PubMed1983

Neonatal screening for congenital adrenal hyperplasia.

Capillary blood samples from 42930 infants born in the Italian region of Emilia-Romagna were collected for 17-hydroxyprogesterone radioimmunoassays on days 2, 3, 4, 5, 6, and 7, or between days 7 and 15 of life. A microfilter paper method modified from that of Pang et al.1 was used for this assay. Pathologic values of 17-hydroxyprogesterone were found in 5 infants giving an incidence in this homogeneous Caucasian population of 1:8586. We also investigated 17-hydroxyprogesterone values in relation to the day of sampling and the possible correlation between 17-hydroxyprogesterone values and birthweight and gestational age. We concluded that neonatal screening for congenital adrenal hyperplasia caused by 21-hydroxylase deficiency was possible by this method and that the infants' maturity and the particular day of collection of the samples affect the values but not the validity of the screening.

17-alpha-Hydroxyprogesterone↗
PubMed1982

Hemostatic balance alterations in obese children.

Fibrinolytic response to venous occlusion and other clotting parameters were studied in 34 obese children and 16 controls. The obese children (mean age 9 2/12 years) had a mean overweight of 51.8% +/- 15.6, higher blood glucose and cholesterol levels, and increased baseline and glucose-induced insulinemia. However, baseline ELT did not differ significantly; ELT after 5 min venous occlusion was 203.2 +/- 110.9 min in the obese children and 114.7 +/- 67.9 min in the control group (p less than 0.01) with a mean percent decrease respectively of 14.9% and 29.2%. Poor fibrinolytic responders did not correlate with age, overweight, or metabolic indices. Lower levels of ATIII (p less than 0.01) and no changes in F VIII: C and F VIII: R Ag were also found in the obese. Furthermore, in a larger group of 84 prepubertal obese children (mean age 10 years; mean overweight 48.2%) and in 39 normal prepubertal children (mean age 10 4/12 years) we also studied platelet aggregation capacity according to Breddin. This parameter was altered in a high proportion of the obese children (p less than 0.05). The obese children were also poor fibrinolytic responders, similarly to obese adults, and exhibited early alteration of the clotting balance.

Antigens↗
PubMed1982

Neonatal screening for congenital adrenal hyperplasia using a microfilter paper method for 17-alpha-hydroxyprogesterone radioimmunoassay. Experience gained from the study of 22,233 cases.

We examined 22,233 infants born in Emilia-Romagna (Italy). Capillary blood samples for 17-OH-progesterone assay were collected on the 3rd, 4th, 5th, 6th or 7th day of life on filter paper of the same type used for the screening of aminoacidopathy and hypothyroidism. 17-OH-progesterone values were determined using a micromethod modified from that of Pang and co-workers. 20 pg/disk was considered as a threshold value and called for a second assay, which was performed in 0.18% of the cases. Pathologic values of 17-OH-progesterone were confirmed in the serum of 4 neonates. In our population the incidence of 21-hydroxylase deficiency was found to be 1 out of 5,558 cases.

Adrenal Hyperplasia, Congenital↗
PubMed1981

HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency.

HLA genotype and HLA-linked marker data for 40 unrelated patients from central Italy and 2 unrelated patients from Sardinia with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) were analyzed. The results confirm that the HLA-linked 21-OH-def gene is associated with several different HLA determinants and complete HLA haplotypes, although the only determinant with significantly increased frequency was the complement C2 allele C2B. The HLA antigens B8 and DR3 were found in significantly decreased frequencies. The haplotype A3, Cw6, Bw47, BfF, DR7, which is exceptionally rare in the general population but which has been found in many other 21-OH-def patients from diverse geographical origins, was also found in one of the Italian patients. This and other HLA haplotype associations found among the Italian patients may represent mutations that have occurred on HLA haplotypes with genetic linkage disequilibrium or, alternatively, may represent mutations that have not yet had time to become randomly associated with different HLA complex determinants. The marked negative associations with B8 and DR3 could, however, result from an interaction between the gene products of the HLA complex and the 21-OH-def phenotype.

Adrenal Hyperplasia, Congenital↗
PubMed1981

Serum immunoglobulins and lymphocyte subpopulations derangement in Turner's syndrome.

Abnormalities of the proportions of peripheral blood lymphocyte subpopulations and of immunoglobulin serum levels were found in twenty patients affected by Turner's syndrome. A slight but significantly decreased percentage of circulating T and B cells, and increased percentage of null cells and a decreased in vitro responsiveness of lymphocytes to phytohaemagglutinin, concanavalin A and pokeweed mitogen were found in Turner's syndrome patients. IgG serum level was found significantly decreased in comparison with age-matched fifty-seven normal males and fifty-seven normal females and IgM serum level was intermediate between female and male values; Turner's syndrome patients with monosomy had an IgM serum concentration very close to male values. The derangement of T and B lymphocyte subpopulations, probably related to the aneuploidy, does not seem to be a severe one but it could account for the immunoglobulin abnormalities and for the association of Turner's syndrome with immunological disorders such as autoimmune diseases. The role of X chromosome on IgM serum level is discussed.

Adolescent↗
PubMed1981

Disordered prolactin secretion in the obese child and adolescent.

Thirty-eight obese (13 prepubertal, 25 pubertal) boys, and 17 obese (16 prepubertal, 11 pubertal) girls underwent a thyroid-releasing hormone test with assay of prolactin. Obese pre-pubertal boys had prolactin levels that were significantly below those of the control group both under basal conditions and after stimulus. In the obese pubertal boys the difference was significant only after stimulus. The pituitary prolactin reserve in obese pubertal girls was lower than that of the control group. We conclude that in children and adolescents obesity may induce a hypothalamo-pituitary disorder that affects prolactin secretion.

Adolescent↗
PubMed1981

Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.

Cryptic 21-hydroxylase deficiency has been previously described in asymptomatic family members of patients with classical congenital adrenal hyperplasia (CAH). These family members were detected by high baseline 17-hydroxyprogesterone levels found in the course of family studies. The hormonal responses to ACTH of the family members with cryptic 21-hydroxylase deficiency were determined and compared to the responses of patients with CAH, patients with acquired adrenal hyperplasia, family members predicted to be heterozygous for CAH, family members predicted to be unaffected, and the general population. The ACTH-stimulated levels of 17-hydroxyprogesterone and delta 4-androstenedione in the cryptic family members were elevated above the level of the general population or family members heterozygous for classical CAH, but below that of patients with CAH. The hormonal profile of patients with cryptic 21-hydroxylase deficiency is similar to that of patients with acquired adrenal hyperplasia. The response of family members heterozygous for the cryptic gene (21-OH CRYPTIC/21-OH NORMAL) was indistinguishable from that of family members heterozygous for the classical CAH gene (21-OH CAH/21-OH NORMAL). These studies support our previous proposal that patients with cryptic 21-hydroxylase deficiency are genetic compounds, having one gene for a severe enzyme deficiency and one gene for a mild 21-hydroxylase deficiency. Thus, the 21-hydroxylase genotype in cryptic 21-hydroxylase deficiency is 21-OH CAH/21-OH CRYPTIC.

Adolescent↗