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Biomedical subjects

L Artesani

Publications and source records attributed to L Artesani.

15 recordsLinked to original sources

Thyroid diseases in patients treated during pre-puberty for medulloblastoma with different radiotherapic protocols.

We evaluated thyroid disease in 32 patients treated, during pre-puberty, for medulloblastoma, followed for at least 4 years and without relapse during observation. After surgery the patients underwent chemotherapy (CT) and radiotherapy (RT). The protocols were as follows: 20 patients (group A) SNC 76 and SNC 85 protocols which included conventional fractionated RT (36-40 Gy to the craniospinal axis and a 14-18 Gy boost to the posterior fossa, administered as 1.5-1.8 Gy per fraction per day) and a junction between the cranial and the spinal fields at C2-C3 level; 12 patients (group B) SNC 91 protocol which included hyperfractionated RT (36 Gy to the craniospinal axis and a 30 Gy boost to the posterior fossa; this was administred as 1 Gy per fraction twice per day) and a junction at levels C5-C6 or C6-C7 level. The mean age at diagnosis was 7.4+/-3.2 years for group A and 8.4+/-2.6 years for group B. Thyroid function was evaluated yearly and ultrasonographic characteristics every 2 years. The patients were followed for a mean of 10.8+/-3.8 for group A and 6+/-1.4 years for group B. Primary hypothyroidism was diagnosed in 16 group A patients and 4 group B patients, and central hypothyroidism was diagnosed in 2 group A patients (difference in risk of developing hypothyroidism evaluated with a Wilcoxon-test: p=0.048). Ultrasonography showed reduced thyroid volume in 7 group A cases, and structural changes in 21 patients (17 group A, 4 group B); 9 L-thyroxine-treated patients were confirmed hypothyroid after having stopped therapy. A thyroid nodule was detected in two cases (one from each group). In conclusion, our data indicate that thyroid injury may be diminished by the use of hyperfractionation and low-junction radiotherapy in the treatment of medulloblastoma.

Adolescent↗

[Long term clinical and radiological follow-up of patients given respiratory assistance during the neonatal period].

135 babies admitted to the resuscitation department in the neonatal period and submitted to respiratory assistance were followed up clinically and radiologically at periods of from three months to two years. Alongside two cases of bronchopulmonary dysplasia diagnosed during admittance, 9 cases of minor respiratory sequelae were identified. Mechanical artificial ventilation and high concentrations of oxygen are suggested as decisive causes of bronchopulmonary changes. Both bronchopulmonary dysplasia and minor respiratory forms show a tendency to progressive clinical and radiological improvement with the passage of time.

Follow-Up Studies↗

Sonographic appearance of ovaries and gonadotropin secretions as prognostic tools of spontaneous puberty in girls with Turner's syndrome.

We evaluated the possibility of anticipating spontaneous puberty in peripubertal Turner girls, in order to plan substitutive estrogen treatment. In the 24 patients studied, spontaneous puberty was seen in 4/11 girls with 45 XO karyotype, 5/5 with mosaicisms, 1 out of 2 with structural aberrations of the X chromosome and 0 out of 6 with Xq isochromosomes. When considering sonographic findings, the 6 girls with normal ovaries and 4/9 of those with intermediate ovarian appearance showed spontaneous puberty; the remaining 5 with intermediate ovaries and 9 with streak gonads did not undergo spontaneous puberty. Gonadotropin secretion was normal in girls with normal ovaries, moderately elevated in patients with intermediate ovarian appearance, and very high in those with streak gonads. The prognostic value of sonography and gonadotropins is particularly important in girls with intermediate ovaries. Therefore these evaluations should be performed at peripubertal age in patients with Turner's syndrome to elucidate the degree of ovarian insufficiency.

Child↗

A case of acid lipase deficiency: Wolman's disease.

We report a case of Wolman disease, an unusual autosomal recessive disease characterized by storage of lipid in histiocytes. Storage of cholesteryl esters and triglycerides is caused by lysosomal acid lipase deficiency. This enzyme hydrolyses the cholesteryl esters of LDL thus allowing their peripherical metabolism. Onset of the disease occurs after the first month of life with hepatosplenomegaly, diarrhea, vomiting, abdominal distension, failure to thrive. Diagnosis, suspected because of calcifications of the adrenals was achieved by demonstration of lysosomal acid lipase deficiency in lymphocytes and cultured skin fibroblasts. Carriers of the disease can be identified by enzyme assays in lymphocytes and fibroblasts and prenatal diagnosis can be accomplished by lysosomal acid lipase assays in cultured amniotic fluid cells and chorionic villi.

Adrenal Gland Diseases↗