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Biomedical subjects

M Tondi

Publications and source records attributed to M Tondi.

At least 19 recordsLinked to original sources
PubMed1993

Neuropsychological evaluation in a series of 17 cases operated on for craniosynostosis.

In a study of patients suffering from craniosynostosis various pre- and post-operative parameters were identified that may affect subsequent intellectual capacity. In particular, facial malformations appeared to be closely correlated with impaired intellectual development. Other parameters included measurement of cranial circumference and volume; their subaverage values correlated with slight mental insufficiency. However, in the pre-operative period they cannot be used as prognostic indices because these relations were statistically not significant. The remaining parameters (neurological and electroencephalographic findings, post-operative re-ossification of the skull, pre-operative digital impressions, CT findings) did not seem to be related to intellectual development.

Adolescent↗
PubMed1992

Prognosis after therapy discontinuation in children with epilepsy.

Anticonvulsant therapy was stopped in 191 epileptic children (109 males and 82 females) after a seizure-free period of at least 2 years, independent of EEG findings, followed up for a minimum of 2 years after withdrawal. Overall, 43 (22.5%) had recurrence of seizures; of these, 79% relapsed within the 1st year after drug stopping and 93% within the 2nd year. The probability of remaining seizure free was 97% at the end of the withdrawal period, 82% 1 year later, 79% at 2 years and 77% at 5 years. In order to evaluate the risk of recurrence and the predictive factors of relapse, several parameters were investigated by univariate and multivariate statistical analysis. At univariate analysis, the factors which proved to be significantly correlated to relapses were: age at onset over 4 years, seizure-free time less than 2 years, sudden drug discontinuation, pathological EEG records during seizure-free time and paroxysmal responses to intermittent photic stimulation (IPS). At multivariate analysis, only age at onset, seizure-free time and sudden discontinuation were the factors indicating a significantly higher relapse risk; paroxysmal IPS responses, when analyzed in association with these variables, proved to be significant and increased the predictive value for prognosis of associated factors.

Adolescent↗
PubMed1988

Chromosome abnormalities in tuberous sclerosis.

In fibroblasts cultured from biopsies of the skin lesions of six patients with tuberous sclerosis (TS) there was a variable but consistent degree of karyotypic variation. Premature centromere disjunction (PCD) of all or part of the chromosomes, micronuclei, an increased incidence of breaks, dicentric chromosomes and the presence of polyploid metaphases were found in all cultures. The PCD was of the type encountered in Roberts syndrome and its frequency varied from 8% to 30%. In metaphases with PCD of one and of two chromosomes, the chromosome involved were identified, and chromosome 3 was involved 21 times among 59 chromosomes with PCD. Chromosome 3 tends to be preferentially involved in dicentric formation. In lymphocyte cultures from the same patients there were no metaphases with PCD, but there was a slight increase of breaks and the presence of dicentric chromosomes, also involving chromosome 3. Polyploid metaphases were increased in some of the cases. Karyotypic variation can be considered a cellular phenotypic characteristic of TS in fibroblasts cultured from the skin lesions, and its type indicates disturbances in the mechanics of centromere division and of chromosome distribution at cell division.

Adolescent↗
PubMed1986

The myoblast defect identified in Duchenne muscular dystrophy is not a primary expression of the DMD mutation. Clonal analysis of myoblasts from five double heterozygotes for two X-linked loci: DMD and G6PD.

We previously proposed the hypothesis that the primary expression of the defect in X-linked Duchenne muscular dystrophy (DMD) occurred in the myoblast, or muscle precursor cell. This was based on the observation that the number of viable myoblasts obtained per gram DMD muscle tissue was greatly reduced and those that grew in culture had decreased proliferative capacity and an aberrant distended flat morphology. Here we test that hypothesis by determining whether the expression of the myoblast defect is X-linked. Muscle cells were obtained from five doubly heterozygous carriers of two X-linked loci, DMD and glucose-6-phosphate dehydrogenase (G6PD), and compared with those from five sex- and age-matched controls heterozygous for G6PD only. A total of 1,355 individual clones were determined to be muscle and evaluated at the single cell level for proliferative capacity, morphology, and G6PD isozyme expression. The results demonstrate that the proportion of defective myoblast clones is significantly increased in DMD carriers. However, since this cellular defect does not consistently segregate with a single G6PD phenotype in the myoblast clones derived from any of the carriers, it is unlikely to be the primary expression of the DMD mutant allele.

Adult↗
PubMed1983

Lymphocyte subpopulations in blood and cerebrospinal fluid from patients with subacute sclerosing panencephalitis.

Lymphocyte subpopulations in peripheral blood (PB) and cerebrospinal fluid (CSF) from 26 children affected with subacute sclerosing panencephalitis (SSPE) and from 13 controls with various neurological diseases without any immunological implication were examined for surface markers. SSPE patients were found to have significantly lower %s of E-rosette forming cells (RFC) (T lymphocytes) and of EA-RFC (TG lymphocytes, suppressor T cells) in both CSF and PB. No difference was found in EAC-RFC (B lymphocytes) either in CSF or PB. The low EA-RFC values can be explained by genetic factors, immune complexes or virus infection, and they could account for the hypersynthesis of oligoclonal immunoglobulins in the central nervous system. Longitudinal studies performed in 6 SSPE patients during isoprinosine therapy revealed a time-dependent decrement of the %s of E- and EA-RFC in CSF. It cannot be affirmed whether this is related to the disease or to the therapy.

Antibodies, Viral↗
PubMed1982

The free fraction of valproic acid in tears, saliva, and cerebrospinal fluid.

Valproic acid (VPA) was determined by EMIT assay in plasma, tears, saliva, and cerebrospinal fluid (CSF) of patients with epilepsy. Closer correlation was shown between tear/plasma and tear/CSF ratios than between saliva/plasma and saliva/CSF ratios. The VPA CSF/serum ratio was in good agreement with data in the literature. Salivary levels were extremely erratic, while those for tears were much more reliable. Determination of VPA in tears is therefore the best method of studying the VPA free fraction in those cases in which investigations of protein binding of the drug are necessary.

Adult↗
PubMed1982

The Florence sextuplets. Report of a case. Part two: progression of pregnancy, the onset of labor and delivery.

The paper presents a successful case of sextuplet pregnancy after HMG-HCG induced ovulation. The pregnancy was brought to 34, 5 weeks of gestation with all six babies in good conditions and high birth weight (1200-1750 gr.). The effectiveness of early diagnosis, intensive follow-up, and elective caesarean section is discussed. Suggestions are made for the prenatal, intrapartum, and post natal problems connected with mulitple gestation of high fetal number.

Adult↗
PubMed1981

Diphenylhydantoin and primidone in tears.

Diphenylhydantoin (PHT) and primidone (PRM) were determined by the EMIT technique in the plasma, tears, saliva, and CSF of epileptic patients. Results indicate for PHT that tear values are more strictly correlated than are the saliva values to plasma and CSF concentrations. As for PRM, the data obtained show great interindividual variability of concentration in the different body fluids--in agreement with the wide range of both protein binding and half-life of this drug.

Adult↗
PubMed1979

Tears as the best practical indicator of the unbound fraction of an anticonvulsant drug.

Phenobarbital and carbamazepine concentrations were determined by the EMIT technique in tears, saliva, cerebrospinal fluid (CSF), and plasma of patients with epilepsy. Closer correlation was shown between tear/plasma and tear/CSF ratios than between saliva/plasma and saliva/CSF ratios for the two agents. The phenobarbital CSF/serum ratio was in good agreement with data in the literature, and the higher ratio found for carbamazepine may be caused by an EMIT assay cross-reaction for the free fraction of carbamazepine-10,11-epoxide. In our hands, tears seem to represent the best practical indicator of the unbound fraction of an anticonvulsant drug, and the noninvasiveness of the method makes it specifically useful in pediatric neurology.

Adult↗
PubMed1975

Remarks on the surgical treatment of the craniosynostoses.

Technical aspects and results of a surgical procedure for craniosynostoses are exposed. Fragmentation-recomposition of the anterior part of the cranial vault in cases of brachi-, acro-, turri- and trigono-cephaly gives both an effective decompression and a satisfactory cosmetic result.

Adolescent↗
PubMedDate not supplied

Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap.

A study of mitochondrial DNA disease was carried out on 12 members belonging to three generations of a family from northern Sardinia. On the basis of the diagnostic criteria currently used in the classification of mitochondrial diseases a typical MERRF-MELAS overlap phenotype was seen in 11 patients with the mtDNA tRNA(lys) mutation at nucleotide position 8356. Clinical and instrumental investigations (EEG in particular) were made. Patients were divided into two groups: severely and mildly affected cases. The follow-up was reported. The aim of this study was to identify, through EEG, the early signs of the disease. The EEG findings recorded during the clinical evolution allowed us to recognize four degrees of cerebral involvement, and could also suggest the prognosis.

Adolescent↗