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Biomedical subjects

F Brignolio

Publications and source records attributed to F Brignolio.

At least 19 recordsLinked to original sources
PubMed1991

[Evaluation of the effectiveness of monotherapy in the treatment of epilepsy].

On 44 patients undergoing monotherapy, with total plasma levels of drug therapeutic range, 33 had a reduction of the frequency of seizures, while the remaining 11 were unmodified. There was 90% improvement in Primary Generalized seizures, 73% in Secondary Generalized and 62% in Partial Complex; 27% of PC, 16% of PG and 16% of SG shifted to polytherapy. Considering that monotherapy can be better managed and is less toxic, we can recommend it as first choice treatment in newcomers, as a maintenance therapy, and as treatment of choice for the gradual elimination of therapy.

Adolescent↗
PubMed1990

Friedreich's ataxia: a descriptive epidemiological study in an Italian population.

All the cases of Friedreich's ataxia (FA) diagnosed between 1945 through 1984 among residents of a defined area of northwestern Italy were ascertained (N = 59). Cases were diagnosed according to the criteria of the "Quebec Cooperative Study on Friedreich's Ataxia (QCSFA)" with minor modifications. We identified 39 families with 47 probands and 12 secondary cases. Therefore ascertainment probability was 80%. Male to female ratio was 1:1. Pedigrees were compatible with autosomal recessive inheritance. Segregation ratio was 0.28 with both Weinberg's method and the "singles" method (under incomplete ascertainment). Point prevalence ratio was 1.2/100,000 population. Birth incidence rate was 1/36,000 live births. Gene frequency was estimated to be 1/191. The ratio of first-cousin marriages observed among parents of FA patients (3%) was lower than expected from Dahlberg's formula (8%). This finding is not compatible with the hypothesis of genetic heterogeneity for FA.

Adolescent↗
PubMed1989

Epidemiology of motor neuron disease in two Italian provinces. Analysis of secular trend and geographic distribution.

Incidence and prevalence rates of motor neuron disease in two Italian provinces (Asti and Cuneo, Piedmont region) in the period 1971 through 1985 were estimated. The data were omogeneous in the investigated area, but an increasing incidence of the disease during the period studied was found, particularly in older age groups and in females. An increasing trend in mean age of onset of symptoms was also found.

Aged↗
PubMed1988

Motor neuron disease and malignancies: results of a population-based study.

Eight cases of malignancies with concurrent motor neuron disease (MND), derived from an unselected population representing all cases of MND diagnosed during a 15-year period in two Italian provinces, were studied to verify the existence of paraneoplastic forms of the disease. No statistically significant association between the two diseases was found. Therefore, from our findings the occurrence of a neoplasm in a patient affected by MND can be considered a chance association.

Adult↗
PubMed1988

A follow-up study of 60 cases of chronic spinal muscular atrophy.

60 cases of chronic spinal muscular atrophy (CSMA) were followed-up for a period varying from 5 to 40 years. The neuromuscular impairment was evaluated by Norris' ALS score, both at the time of last examination and retrospectively at the time of diagnosis. Age at onset of symptoms was the most important factor in the progression of the neuromuscular damage. Monomelic or asymmetric location of symptoms at the time of diagnosis and duration of the disease were not significantly correlated to the worsening of ALS score.

Adult↗
PubMed1988

Glutamate dehydrogenase (GDH) deficiency in different types of progressive hereditary cerebellar ataxia.

Leukocyte glutamate dehydrogenase (GDH) was studied in 29 patients affected by progressive cerebellar ataxia (PCA) and in 20 healthy controls. Eight GDH-deficient patients, with GDH activity 2 SD below mean value of controls, were identified. GDH deficiency did not identify a subgroup of PCA by characteristic pattern of inheritance and/or age of onset of disease. However, the GDH-deficient patients presented more neurological signs than non-GDH-deficient patients. A significant correlation was observed between GDH deficiency and the presence of extrapyramidal signs, supranuclear palsy, absence of osteotendineal reflexes and neurogenic electromyographical findings.

Adolescent↗
PubMed1988

Post-poliomyelitic motor neuron disease. Clinical aspects and its relation to typical motor neuron disease.

Eighteen cases of post-poliomyelitic motor neuron disease (PPMND) were found in a series of 869 subjects affected by motor neuron disease (MND). The mean age of onset of acute anterior poliomyelitis (AAP) was 43.6 months. The mean age of onset of MND was 45.9 years. No case had a bulbar onset and hyperreflexia was found in only 2 subjects, one of them having also bilateral extensor plantar response. The survival curve showed a better course of these cases, compared to typical MND (TMND). The present study seems to indicate that PPMND and TMND are different diseases.

Adult↗
PubMed1987

Hereditary motor and sensory neuropathies: a genetic and epidemiological study in the province of Turin, Italy.

A clinical, genetic and epidemiological study of hereditary motor and sensory neuropathies (HMSN) was performed in the province of Turin, Italy. The patients were allocated to 5 groups, according to genetic and electroneurographic features. The high proportion of males among recessive and sporadic cases in the present series may suggest the existence of a recessive X-linked form of the disease. The crude prevalence rate was 3.18 (+/- 0.72)/100.000 population for all cases. The slow progression rate and the frequently mild symptoms of the disease, already suggested in literature, are confirmed by the analysis of the survival curves of the cases.

Adult↗
PubMed1987

Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis.

Twenty-seven cases of hereditary amyotrophic lateral sclerosis (ALS), belonging to 8 families, are reported. The analysis of the pedigrees suggests an autosomal dominant transmission, apparently with incomplete penetration. The mean age at onset of symptoms was 50.3 (SD 12.4) years. The mean duration of the disease was 31.2 (SD 20.4) months, ranging from 9 to 86. The median survival time was 24 months. The degree of variation of some quantitative characters, both within and among families, was statistically analyzed. The results support the hypothesis of a phenotypic and genetic heterogeneity of autosomal dominant transmitted ALS.

Adolescent↗
PubMed1987

Disability and quality of life in hereditary ataxias: a self-administered postal questionnaire.

A postal questionnaire was sent to 151 patients affected by Friedreich's disease (FD) and other hereditary ataxias (OHA) to study their disability and quality of life. A 79.5% response rate was obtained. A scoring system based on disability in walking, dressing, personal care, eating and speaking was developed and used. Walking was the most impaired activity. The degree of disability was similar between FD and OHA. Institutionalization, frequency of social contacts, work activity, recreational and social activities were influenced by disability.

Activities of Daily Living↗
PubMed1986

Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy.

A descriptive epidemiological survey of hereditary ataxias and spastic paraplegias was conducted in the province of Torino, Italy (2,327 996 inhabitants). On prevalence day (31 December 1982) 142 patients were alive. Total prevalence was 6.1 cases/100,000 inhabitants (95% confidence limits = 5.1-7.0). The prevalence rate was 2.6 for recessive or sporadic juvenile ataxias, 1.3 for spastic paraplegias, 1.2 for autosomal dominant cerebellar ataxias, and 1.1 for late onset cerebellar ataxias. The prevalence of hereditary ataxias is similar in our province to that recorded in other populations, but hereditary spastic paraplegias are less frequent than in other populations.

Adult↗
PubMed1986

Clinical-anatomic study of a family with bulbo-spinal muscular atrophy in adults.

Four cases are presented, with bulbo-spinal muscular atrophy characterised by adult onset and rapid evolution. They belong to a family in which the type of inheritance is probably dominant. Two cases were studied histologically. The most striking feature was the disappearance of neurons in the lower motor nuclei of medulla and of the spinal anterior horns. An electron microscopic study was carried out in one case. Accumulation of neurofilaments was a general characteristic, in addition to the picture of different sized spheroids. The clinical-pathological relationship is discussed.

Adult↗
PubMed1985

A survival analysis of 155 cases of progressive muscular atrophy.

We performed a survival analysis of 155 cases of progressive muscular atrophy (PMA). In about half the cases, hands were involved first, the lower limbs in 30% and the shoulder girdle in 23%. The lifetables of PMA, adjusted to the expected mortality, showed a survival rate of 61.3% and 56.4% at three and five years, respectively. The location of onset symptoms did not modify the life expectancy, whereas the age of the patients at the moment of first diagnosis had a great influence on the course of the disease. The patients were further subdivided in two groups on the basis of the diffusion of the neuromuscular damage at the moment of the diagnosis. The course of the patients with a localized disease was markedly better than that of subjects with widespread disease. Some hypotheses are made about the latter group of cases.

Adult↗
PubMed1984

Considerations on the malignancy of papillary meningioma. Clinico-pathological study of eight cases.

Eight papillary meningiomas, out of a collection of 750 cases of meningiomas, have been studied clinically and anatomopathologically. 2 had long survival without recurrences, 2 died shortly after operation, 4 had one or more recurrences with death. The 2 cases with long survival showed, at microscopical examination, few mitoses. On the contrary, in the six cases come to death the histological features were characterized by marked pleomorphism, focal necroses and frequent typical and atypical mitoses. In these cases, the correlation between "more malignant" histological aspects and "more aggressive" clinical behaviour is undoubtedly suggestive.

Adult↗
PubMed1983

Atypical and polymorphic angioblastic tumors of the central nervous system.

Five central nervous system (CNS) polymorphic angioblastic tumors have been studied. Four were located in the posterior fossa and one involved the temporal lobe. In reviewing the literature, the authors point out the rarity of the supratentorial locations and of malignant hemangioblastomas. The clinical and anatomopathological peculiarities are discussed, as is the uncertain classification of two cases. The discrepancy between histology and outcome is focused upon in the other three cases. Finally, the diagnostic, prognostic, and nosographic difficulties posed by CNS angioblastic neoplasms are discussed.

Adult↗