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Biomedical subjects

A Cattani

Publications and source records attributed to A Cattani.

24 records · Page 2Linked to original sources
PubMedDate not supplied

Breast US in children and adolescents.

Ultrasonography (US) is of value in the evaluation and characterization of breast masses in children. Most masses represent either normal breast tissue, cysts, or fibroadenomas. Premature thelarche may be unilateral, and normal breast tissue is found at US. Cysts are commonly retroareolar; when they become infected, they appear sonographically as a complex mass. Fibroadenoma is the most frequent breast tumor in adolescent girls, and it is usually solitary, homogeneous, and hypoechoic. Malignant breast lesions are very rare in children; most are due to metastatic disease secondary to rhabdomyosarcoma, leukemia, lymphoma, and neuroblastoma, and their US appearance is nonspecific. Gynecomastia in boys can be mimicked by general obesity and pectoral hypertrophy; US is helpful in the diagnosis, especially when gynecomastia is asymmetric. Most breast lesions in children and adolescents are benign, and surgery should be avoided to prevent later deformity. US is the ideal imaging modality to evaluate breast lesions and may be used to guide a fine-needle aspiration biopsy. Color Doppler US evaluation is helpful; cysts are avascular, fibroadenomas may be avascular or hypovascular, and abscesses show peripheral increased flow. Bloody nipple discharge is more common in prepubertal patients, may occur in infants, and may be secondary to mammary ductal ectasia. Discharge commonly resolves spontaneously, and findings at US are frequently normal.

Adolescent↗
PubMedDate not supplied

Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma.

UNLABELLED: The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype. By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients. The putative gonadoblastoma gene has been mapped to the pericentromeric region of the Y chromosome increasing the interest in studying these sequences. AIMS: 1. To determine the frequency of occult Y chromosome sequences in patients with Turner's syndrome. 2. To analyze the clinical implications of Y sequences detected by karyotype and occult Y sequences. STUDY DESIGN: Cross-sectional study of 58 patients with Turner's syndrome (30 45,X; two with structural anomalies; 26 mosaic [two of whom were 45,X/46,XY]). SRY, TSPY and DYZ3 sequences were amplified by PCR using genomic DNA from peripheral blood. RESULTS: All three Y chromosome sequences were found in one out of 56 patients whose karyotype was not suggestive of having Y chromosome material and in one patient with 45,X/46,Xr(X) karyotype. The patients with the ring chromosome and 45,X/46,XY karyotype underwent surgery and were found to have a gonadoblastoma and dysgerminoma. The four patients with Y chromosome material had non-virilized female genitalia. CONCLUSIONS: Analysis by PCR was more sensitive in detecting Y chromosome sequences than conventional karyotype. The presence of Y material was not associated with virilization. We confirmed the association of Y fragments and gonadoblastoma at an early age.

Adolescent↗
PubMedDate not supplied

[Di George syndrome].

Two patients with Di George syndrome are presented. Diagnosis was done at ages 4 months and 16 days respectively. Their main clinical symptoms were hypocalcemic convulsions, unusual facies (hyperthelorism, low set prominent ears, micrognathia, short philtrum) and cardiac malformations (vascular ring with right aortic arc, aberrant left innominated artery and ligamentum arteriosus in one of them and Tetralogy of Fallot with pulmonary valve atresia in the other). The first patient is now a 3.5 year old boy, his vascular ring was repaired and he has hypoparathyroidism but no clinical nor laboratory evidence of cellular immunodeficiency. The other patient had evidence of heart failure at her second week of life, she died at age sixteen days and, at necropsy, Fallot's tetralogy with pulmonary valve atresia, closed ductus arteriosus, histologically normal ectopic thymus and absent parathyroid glands were demonstrated. We postulate that these cases correspond to partial forms of Di George syndrome.

Antibodies, Monoclonal↗
PubMedDate not supplied

The "Tor Vergata" epidemiological blood pressure study. Hereditary and environmental factors.

The aim of this study was to evaluate the influence of hereditary and/or environmental factors on blood pressure patterns. The study group consisted of 1002 individuals. Comparison of blood pressure values among groups was performed by the Bravais-Pearson r correlation coefficient. Results among the different groups were: p < 0.001 in the parents-offspring group (n = 413) for both systolic (SBP) and diastolic blood pressure (DBP); p < 0.001 in the father-offspring group (n = 382) for SBP only; p < 0.001 in the mother-offspring group (n = 389) for both SBP and DBP; NS in the father-son group (n = 199) for any blood pressure value; p < 0.01 in the father-daughter group (n = 183) for SBP only; p < 0.001 in the mother-son and daughter groups (n = 201 and n = 188 respectively) for both SBP and DBP. Family aggregation analysis disclosed p < 0.01 and p < 0.05 for SBP and DBP respectively in the mother-her sibling group. No significant values were found in the father-his sibling group or between offspring and either their paternal or maternal uncles/aunts. Conversely, a significant correlation (p < 0.001) was found between spouses (fathers and mothers) for both SBP and DBP. These results support the hypothesis that both hereditary and environmental factors exert their influence on blood pressure patterns. We performed both univariate and bivariate statistical analyses. The latter included a) variable separation, b) independent variables, and c) variable correlation. Bivariate analysis of variable correlation proved to be the most suitable.

Environment↗