Search PubMed⌕ Search

Biomedical subjects

F Tinelli

Publications and source records attributed to F Tinelli.

11 recordsLinked to original sources
PubMed2006

Auditory attention at the onset of West syndrome: correlation with EEG patterns and visual function.

At the onset of West syndrome a specific impairment of visual function has been clearly demonstrated, while other aspects of sensorial development, and in particular of the auditory function, have been less studied. The aim of this study was to evaluate auditory function and orienting responses at the onset of West syndrome, and to relate the results with EEG patterns, visual function and neurodevelopmental competence. A prospective multicentric study was performed on 25 successively enrolled infants with West syndrome; all the patients underwent a full clinical assessment, including MRI and video-EEG, visual function and auditory orienting responses (AORs) as well as Griffiths' developmental scales. The whole assessment performed at the onset of spasms (T0) was repeated after two months (T1). AORs resulted significantly impaired both at T0 and T1. At the onset of spasms a highly significant relationship of auditory attention with visual function and neurodevelopmental competence was shown in both cryptogenic and symptomatic forms, but it was no longer present after two months. Our results may suggest a possible pervasive effect of the epileptic disorder on sensory processing, associated to a deficit of neurodevelopment. Although we failed to show a significant correlation between auditory orienting responses and EEG patterns, some evidence seems to support at least partially an influence of the epileptic disorder per se on the genesis of the sensorial impairment. A longer follow up and a larger cohort will be useful for a better clarification of these findings.

Acoustic Stimulation↗
PubMed2004

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.

The clinical phenotype of patients with ring chromosome 22 includes mental retardation with severe language impairment, hypotonia, and dysmorphic facial features. In recent years an increasing number of patients with microscopic as well as cryptic terminal deletion involving band 22q13 have been described and their phenotype shows clinical features overlapping with patients with ring chromosome 22. Loss of DNA in the 22q13.3 region may lead to a clinically recognizable syndrome named "22q13.3 deletion syndrome." We report a patient with a ring chromosome 22 who has hypotonia, profound mental retardation, language impairment, dysmorphic features, and behavioral disorders. To check if the critical region responsible for "22q13.3 deletion syndrome" was absent in this ring, a fluorescent in situ hybridization (FISH) analysis using a probe corresponding to the ARSA locus was performed. In our patient, only one ARSA signal could be detected, indicating that the deletion encompassed the critical 22q13.3 region. A more detailed analysis of the deletion extent then was performed using a panel of fluorescent probes located within 22q13. These experiments allowed the identification of the breakpoint between CTA-299D3 and RP5-925J7 probe, located in 22q13.32. Deletion extent could be estimated to be about 2.5 Mb, and this larger deletion may explain the severity of clinical features observed in our patient.

Abnormalities, Multiple↗
PubMed2003

Effect of raloxifene and clodronate on bone density in postmenopausal osteoporotic women.

The aim of the present study was to determine the safety and efficacy of combined therapy with raloxifene (RLX) and clodronate (CLD) in postmenopausal women. We enrolled 45 women with postmenopausal osteoporosis. The patients were randomly assigned to two different therapeutic groups: RLX 60 mg/day (n = 23) and RLX 60 mg/day plus CLD 100 mg intramuscularly (i.m.) once every 10 days (n = 22); 1 g of calcium and 800 IU of vitamin D3 were also given daily to both groups. Lumbar and femoral bone mineral density (BMD) were assessed at baseline and after 12 months of therapy using the dual X-ray absorptiometry technique (Norland XR36). We measured the bone turnover markers NTx and CTx, bone alkaline phosphatase (BAP) and osteocalcin at baseline and after 12 months of therapy. Our data demonstrate that 1 year of combined RLX+CLD therapy induced a higher increase in lumbar BMD than treatment with RLX alone as well as a major decrease in bone resorption markers, suggesting an additive effect of CLD on bone mass and inhibition of bone turnover. Furthermore, after 1 year of therapy levels of bone formation markers (osteocalcin and BAP) had increased in both groups, but the increase in osteocalcin and BAP was significantly higher in the RLX+CLD treated group, suggesting that, in addition to its inhibitory effects on resorption, CLD might also have stimulatory effects on mature osteoblast activity.

Absorptiometry, Photon↗
PubMed2002

Social adjustment in children with Down mental retardation (MRD) and Fragile-X mental retardation (MRX).

BACKGROUND: Since adjustment abilities became important in mental retardation (MR) diagnosis, it seemed interesting to study social adjustment in persons with MR Down (RMD) and MR Fragile-X (RMX). These two syndromes are the most common causes of MR of chromosomal origin. To evaluate the influence of temperament insofar as behavior and temperament are concerned in social adjustment, we studied temperamental dimensions (emotionality, activity, sociability and shyness) and social functioning (attention problems and withdrawal). METHODS: Our study group was composed of 35 children with MR; 23 with RMD (F=14) age range 4 to 21, and 12 (F=1) with RMX age ranged from 5 to 19. #Social adjustment was evaluated by two scales: EAS and CBCL. RESULTS: The six evaluated dimensions of adjustment functioning (emotionality, activity, sociability, shyness, attention problems and withdrawal) differ in the two MRD and MRX groups. MRX scores are all higher except for sociability; shyness, attention problems and emotionality show a significant difference. CONCLUSIONS: The RMX group is that one may have more difficulty in social adjustment. This is because they are characterized by hyperactivity, withdrawal, low attention, low social function and high emotionality that are all negative symptoms for a social adjustment. In our study group MRD have higher values in the sociability area and they don't show relevant behavioral disorders and they have got more adaptive abilities. We may hypothesize that this attitude is a part of their genetic structure, and also that the best social adjustment of Down persons may be linked to a better interaction with the environment.

Adolescent↗
PubMed1975

[Clucagon].

Only in 1969 reliable information about glucagon and its different forms was acquired. Some factors are already known to increase or diminish the production both of pancreatic glucagon (nesidioglucagon) and of enteroglucagon. There are various methods for their study. In the present report some results are dealt with that may be of clinical interest, and the possibility of measuring those two kinds of hormones is pointed out as a diagnostic help in reactive and functional hypoglycemic syndromes. Information about glucagon in clinical medicine, however, is still -- on the whole -- scarce and insufficient to throw light on its several physiological and physiopathological aspects.

Blood Glucose↗
PubMed1969

Alcohol metabolism: role of microsomal oxidation in vivo.

A role for microsomal alcohol oxidation cannot be demonstrated in vivo. Factors affecting microsomal drug hydroxylations had no effect on alcohol metabolism in the rat in vivo. The compound SKF 525-A which inhibits, and chronic phenobarbital treatment which enhances microsomal drug hydroxylations did not alter alcohol oxidation.

Alcohols↗