[Treatment with growth hormone (GH) in 3 cases of Noonan syndrome].
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Biomedical subjects
Publications and source records attributed to G Finocchi.
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We describe the case of a diastolic mitral and tricuspid regurgitation in a patient affected by acute myocardial infarction Ecg showed inferior myocardial infarction complicated by atrioventricular block and a junctional rhythm with frequent premature ventricular beats; the mean heart rate was of about 60 per minute. 2D echocardiogram disclosed akinesia of the apical segments of the inferior septum and anterior and infero-lateral walls. Pulsed and continuous wave Doppler showed mild to moderate mitral and tricuspid systolic regurgitation and diastolic regurgitation through both atrioventricular valves. The diastolic regurgitation always occurred during prolonged diastoles, soon after the blocked P waves. The possible mechanism of this finding and its clinical significance are discussed, drawing the conclusion that the atrioventricular diastolic regurgitation is not diagnostic of a specific valvular disease but can be secondary to other conditions, especially the atrioventricular block.
We describe the case of a patient 4 months old transferred to our hospital for evaluation of occasionally detected cardiac alterations: ecg showed abnormal Q and negative T waves in D1 - aVL leads and chest x-ray was consistent with enlargement of the left ventricular cavity. After admission, 2D echocardiographic examination disclosed, in the left ventricular cavity, a large mass extending from the papillary muscles to the outflow tract. The mass was of uniform density and easily recognizable as a tumor. Although asymptomatic, the patient underwent operation 10 months later because of the risk of occurrence of severe conduction disturbances or arrhythmias. Histological examination demonstrated that the mass was a fibroma. At post-op echocardiographic and angiographic evaluation the left ventricle appeared abnormally dilated with a large aneurysm of the lateral wall and very poor pump function. Nevertheless the patient did well in the following months until a ventricular fibrillation occurred at home. He was immediately brought to hospital and resuscitation was attempted unsuccessfully. We discuss the role of 2D echocardiography in the diagnosis of cardiac tumors, the indication of the early surgical removal and the possible limitations of the technique we used in this case.
Follow up of 40 girls with premature thelarche showed that where this disorder occurred before age 2 years it usually regressed completely, thus representing a transient and isolated phenomenon. Premature thelarche after age 2 years persisted more frequently, however, and represented the first sign of sexual development, generally leading to simple early puberty.
We describe the cases of two neonates affected by the syndrome of pulmonary valve agenesis, in whom non-invasive diagnosis was possible by two dimensional echocardiography. The echocardiographic features we describe are the following: enlargement of the right ventricle in association with ventricular septal defect, malalignment type, dilatation of the right ventricular outflow tract, massive dilation of the main and branch pulmonary arteries, annular pulmonary stenosis. At the expected site of the pulmonary valve two ridges were seen, which did not have the typical motion of a fully developed valve. The ventricular septal motion was paradoxical in both cases. The diagnosis was confirmed at cardiac catheterization and the two neonates underwent operation unsuccessfully. The anatomic post-mortem examination confirmed the echocardiographic and angiographic findings. As successful treatment of this syndrome is difficult, we believe that a non-invasive echocardiographic diagnosis is very useful in order to avoid or, at least, delay a high risk cardiac catheterization.
A new case of gelastic epilepsy and precocious puberty due to hypothalamic hamartoma is reported. After long-term medical treatment there was no observable neurological or endocrinological improvement and the clinical outcome was poor. The authors consider that early surgery for hamartoma should be reconsidered.
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Two cases of severe intrauterine growth retardation, a boy and a girl studied for 7 and 10 years respectively, are reported. Both patients showed peculiar cranio-facial abnormalities as observed in the so-called Seckel's syndrome, an appearance of premature aging, peripheral GH resistance which was probably due to deficiency in Somatomedin A production, sella areas and volumes consistently at the upper limits of normal when related to the patients' height, and dysharmonic skeletal maturation ivory cone-shaped epiphyses of the tubular bones of the hands.
The effect of tolbutamide administration on insulin secretion was studied in 69 children with growth retardation. Diminished insulin secretion was found in all the patients, compared to the control group. This insulin deficit was most evident in patients with isolated, total GH deficiency and least evident in children with idiopathic short stature. Intermediate values were found in dwarfism due to isolated, partial GH deficiency. These results favour the hypothesis that hypoinsulinism contributes to the somatotropin deficiency in causing growth retardation.
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Sex hormone binding globulin (SHBG) is a specific steroid-binding plasma glycoprotein regulated by several different factors. Sex steroids are currently considered to be the main physiological regulators of this protein. Testosterone (T) in adults seems to be the main hormone active in lowering SHBG. The role of dihydrotestosterone (DHT) in such regulation, particularly in the prepubertal age, is not well understood, and no data exist about the role of 3 alpha-androstanediol (3A alpha) and its glucuronide. In adulthood, in addition to T, 5-ene steroids seems to play a role in the regulation of SHBG plasma concentration. To assess the effect of adrenal and peripheral androgens in modulating SHBG levels in the prepubertal age, we studied subjects with precocious pubarche secondary to precocious adrenarche (PA). PA represents, in fact, a good model of study as it is characterized by an increased production and action of adrenal androgen in females under 8 yr of age and in males under 9. Sixty-five subjects (55 females and 10 males; chronologic age: 3.6 - 8.2 yr (6.9 +/- 1.3, SD); bone age: 3.6 - 11 yr (7.6 +/- 1.9); BMI 17.9 +/- 3 kg/m2) were studied. Fifteen age-matched normal children (BMI 15.2 +/- 0.8 kg/m2) were studied as controls. Androstenedione (A), dehydroepiandrosterone (DHA) and its sulphate (DHA-S), T, DHT, 3Ad and its glucuronide (3AG) and SHBG were evaluated in all subjects. In PA cases serum SHBG levels (50 +/- 27 nM) were significantly lower (p less than 0.05) with respect to normal prepubertal patients.(ABSTRACT TRUNCATED AT 250 WORDS)