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Biomedical subjects

M Zappella

Publications and source records attributed to M Zappella.

54 records · Page 3Linked to original sources
PubMed1989

Reduced cerebrospinal fluid B-endorphin levels in Rett syndrome.

Cerebrospinal fluid (CSF) levels of B-endorphin (B-EP), B-lipotropin (B-LPH) and ACTH were measured in nine girls with Rett syndrome with features of autistic behavior (3.7-12.1 years of age) and in ten children with chronic leukemia (control group). The peptides were measured by radioimmunoassay, either directly in the sample (ACTH) or after Sephadex G-75 column chromatography, in order to eliminate interfering substances (B-LPH and B-EP). The CSF B-EP patient levels (20.8 +/- 13.1 fmol/ml, means +/- SD) were significantly lower than in age-matched controls (69.1 +/- 32.6, P less than 0.01), whereas the B-LPH and ACTH levels were in the control range. No correlations were found between the clinical findings and CSF neuropeptide concentrations. These data demonstrate a decrease in central opiate activity in girls with Rett syndrome.

Adrenocorticotropic Hormone↗
PubMed1987

High prevalence of Rett syndrome in a small area.

Five cases of Rett syndrome were revealed in a population of 2,269 girls 4-14 years of age and born in 1973-83. This gives a prevalence of 22.03 per 10,000 girls in this small rural area situated around the city of Crema in northern Italy. Family history of these families did not reveal any inbreeding among these families. This unusual concentration of patients with this syndrome is apparently the first example of a strong geographical concentration of Rett syndrome.

Adolescent↗
PubMed1986

Motivational conflicts in Rett syndrome.

Some of the peculiar symptoms of Rett syndrome including stereotypic wringing and washing hand movements, staring, social withdrawal, bouts of hyperpnea, are interpreted as the expression of motivational conflicts occurring in severely brain damaged patients unable to perform useful hand movements. These behaviours can be considerably reduced, if external 'requests' are substantially diminished and sources of keen interest (stories, music, face to face interactions) are activated. These preliminary observations were derived from 34 patients seen by the author.

Adolescent↗
PubMed1986

Plasma endorphins in Rett syndrome: preliminary data.

Plasma levels of beta-endorphin (beta-EP) and prolactin (PRL) were measured in 5 girls with Rett syndrome and in a control group before and after giving 10 mg metoclopramide i.v. beta-lipotropin (beta-LPH) was only measured in basal conditions. Basal values of beta-EP and beta-LPH were lower than in control individuals. The responses of plasma beta-EP to metoclopramide in Rett syndrome patients were less intense than in control individuals, while the PRL increase in girls with Rett syndrome was significantly higher than in control subjects. These preliminary data suggest a derangement of the dopaminergic system.

Adolescent↗
PubMed1985

Rett syndrome: a significant proportion of girls affected by autistic behavior.

The main clinical features of 20 girls affected by the Rett syndrome are described and for 3 of them more detailed case reports are given. Fifteen of these girls were observed for the first time between October 1983 and February 1985. In the same period 25 other girls with the complete features of infantile autism were also seen for the first time. The marked loneliness with gaze and hearing avoidance and the speech abnormality of girls with the Rett syndrome are also discussed.

Adolescent↗
PubMedDate not supplied

Nerve growth factor plasma levels and ventricular repolarization in Rett syndrome.

Rett syndrome is a severe neurological developmental disorder. In this syndrome, the high incidence of sudden death is correlated with an alteration of ventricular repolarization. The purpose of this study was to evaluate plasmatic levels of nerve growth factor (NGF) in Rett patients with prolonged corrected QT (QTc) interval in comparison with those of Rett patients with normal QTc. We observed 23 female Rett patients (9.9+/-4.7 years). NGF plasma levels and QTc interval were measured in all patients. Student t-test was performed for statistical analysis. NGF plasma levels were significantly lower in Rett patients with QTc interval prolongation (QTc > 0.44 sec) in comparison with Rett patients with a normal QTc interval (4.5+/-4.5 vs 11+/-8.3 pg/ml, p = 0.02). The alteration of NGF levels, observed in Rett patients with a long QTc interval, may explain the presence of an altered ventricular repolarization associated with a higher risk of cardiac arrhythmias.

Adolescent↗
PubMedDate not supplied

Effects of acetyl-L-carnitine on cardiac dysautonomia in Rett syndrome: prevention of sudden death?

There is a higher incidence of sudden death in patients with Rett syndrome than individuals in the general population. Previous studies have implicated cardiac dysautonomia and a long QT interval as causative factors. Because carnitine plays a critical role in cellular metabolism and may have beneficial effects on cardiac and nerve function, we investigated the effects of long-term treatment with acetyl-L-carnitine on heart rate variability and electrocardiographic abnormalities in 10 girls with Rett syndrome and compared the results with 12 control patients (girls with Rett syndrome who were not treated). The age range of the subjects was 2-21 years. The study design called for the evaluation of heart rate variability, corrected QT interval, and QTc dispersion. In the 10 Rett girls treated with acetyl-L-carnitine, a significant increase in heart rate variability was observed. To explain these results, we hypothesize that acetyl-L-carnitine has a neurotrophic action on the cardiac autonomic nervous system. This effect may reduce the risk of sudden death in patients with this syndrome.

Acetylcarnitine↗