PubMed Health⌕ Search

Biomedical subjects

A Ferlini

Publications and source records attributed to A Ferlini.

At least 19 recordsLinked to original sources
PubMed1995

Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.

An increase in the number of (CAG)n repeats in the first coding exon of the androgen receptor (AR) gene has been strongly associated with Kennedy disease (KD) (spinal and bulbar muscular atrophy). This is an X-linked hereditary disorder characterized by motoneuron degeneration occurring in adults together with gynecomastia and hyperestrogenemia. We have performed AR gene molecular analysis in several members of a large family with KD as well as in 25 sporadic patients suffering from heterogeneous motoneuron disease (MND). An increase in the length of the (CAG)n repeats was detected, as expected, in all the affected males and in obligatory carrier females, some of which had minor signs of lower motoneuron involvement. There was only one possible exception, one young male with initial signs of the disease, who had an apparent normal length allele. An increased pathological allele was also found in 3 patients with MND. This indicates that the analysis of (CAG)n repeats of the AR gene plays a role in the differential diagnosis of this heterogeneous group of neurological diseases.

Adolescent↗
PubMed1995

An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Vascular dementia is usually sporadic and associated with definite risk factors. Several cases also occur in a familial fashion, and may affect middle-aged or even younger subjects. Recently, an autosomal dominant inheritance was demonstrated in two unrelated French families, the members of which were affected by stroke-like episodes culminating in progressive dementia. Genetic linkage analysis assigned the disease locus to chromosome 19q12. We report an additional kindred of Italian origin in which at least 16 subjects presented leukoencephalopathic alterations. Recurrent strokes, psychiatric disturbances, dementia, and in 2 members, tetraplegia and pseudobulbar palsy were the hallmarks of this syndrome. Notably, 5 asymptomatic individuals had neuroradiological signs of leukoencephalopathy. Pathological examination of 1 subject revealed a widespread vasculopathy of the perforating arterioles, characterized by deposition of eosinophilic-congophilic material that did not immunostain with antibodies against prion protein, beta-amyloid, cystatin C, transthyretin, or heat-shock protein 70 and was similar to that described in the French families. Based on the maximum lod score, the most likely location for the disease locus was also mapped to chromosome 19q12, and found to coincide with the CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) locus. The present results confirm the existence of a nosologically distinct, autosomal dominant cerebrovascular disease, presenting with recurrent subcortical ischemic strokes independent of vascular risk factors.

Adult↗
PubMed1995

Haplotype analysis of common transthyretin mutations.

The most frequent transthyretin (TTR) variant associated with hereditary amyloidosis is TTR Met 30, which has its major focus in Portugal, although it also occurs in many other countries. The distribution of the mutation and its occurrence in a CpG dinucleotide lead us to question the origin of the mutation and the possibility of its having originated in Portugal. In order to investigate these questions, we studied the distribution of haplotypes associated with the Met 30 mutation in families from different European countries. All the analysed Portuguese families presented the same haplotype associated with the Met 30 mutation (haplotype I). The same was found for the Swedish and Spanish families studied. However, a distinct haplotype (haplotype III) was found in three families, one Italian, one English and one Turkish. These results suggest that, although the Portuguese Met 30 carriers might have one founder, the mutation probably recurred in populations in Europe in a similar manner to that reported in Japan. In this study, we have also analysed the haplotypes associated with other TTR variants frequent in the Portuguese population.

Amyloidosis↗
PubMed1992

Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.

We report the biochemical and molecular characterization of two new transthyretin (TTR) variants in two Italian families with hereditary amyloidosis. Both families presented neuropathy and cardiomyopathy but they differ in other clinical features. These TTR variants were previously detected by isoelectric focusing (IEF); one is a neutral TTR variant and the other one is basic. By protein and DNA analysis the neutral variant was found to have a substitution of an alanine for a threonine residue at position 49 (TTR Ala-49) of the polypeptide chain. The basic variant has a glutamine residue replacing glutamate at position 89 (TTR Gln-89).

Amino Acid Sequence↗
PubMed1992

Muscle energy metabolism in female DMD/BMD carriers: a 31P-MR spectroscopy study.

31P nuclear magnetic resonance spectroscopy (31P-MRS) was used to investigate the energy metabolism of the gastrocnemius muscle in 16 DMD/BMD female carriers. No significant difference was found with the controls in the resting muscle, while all carriers showed a decreased ability to perform work, and a higher Pi/PCr ratio for comparable relative levels of steady-state work. The rate of postexercise recovery of PCr/Pi ratio was lower in all carriers. The decreased rate of PCr/Pi recovery appears to be mainly due to a decreased rate of Pi recovery. Our findings show abnormal muscle energy metabolism in DMD/BMD female carriers.

Adenosine Triphosphate↗
PubMed1992

31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport.

Muscle energy metabolism was studied by phosphorus nuclear magnetic resonance spectroscopy (31P-NMR) in 6 patients with Becker dystrophy, and in 24 female DMD/BMD carriers (n = 18) and non-carriers (n = 6). At rest all patients showed a high Pi/PCr ratio due to low PCr and high Pi contents, and a high intracellular IpH. 31P-NMR of carriers and non-carriers did not differ from controls. In patients and carriers in-magnet exercise revealed a reduced ability to perform work and Pi/PCr ratios higher than controls for comparable relative levels of steady-state work. Post-exercise Pi recovery was found abnormal in patients and in carriers. The 31P-NMR abnormalities found in the working muscle of both BMD patients and female DMD/BMD carriers indicate a defect of phosphate metabolism that, be it primary or secondary, reflects a deficit of energy metabolism.

Adolescent↗
PubMed1991

Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients.

A sample of 140 children exhibiting neurologic disturbances (93 suffering from epilepsy and 47 with delayed psychomotor development or mental retardation) was tested for the activity of some lysosomal enzymes. A partial deficiency of arylsulfatase A (ASA) in leucocytes (activities lower than 60% of the control average) was detected in 36 patients (25.7%), whereas few ASA-deficient individuals (1.4%) were found in the control sample of 71 healthy children. Therefore, the frequency of ASA deficiency is abnormally high in our sample of pediatric patients. ASA activity levels were also assayed on fibroblasts from 12 of the 36 ASA-deficient patients; the mean activity in these cells was 20% of the control average. Excretion of urinary sulfatides was not increased in the tested ASA-deficient patients (10/36). Clinical symptoms of these ASA-deficient patients bore no resemblance to classical metachromatic leucodystrophy (MLD), but resemble literature cases labeled as atypical MLD or diagnostic puzzles. This result suggests that reduced ASA activity might be associated with an increased risk of developing neurologic or neuropsychiatric disturbances in children.

Adolescent↗
PubMed1990

Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe.

A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, the DNAs of six unrelated girls with the Rett Syndrome (RS) to test the hypothesis that mutations of the human synapsin I gene might cause RS. We found no alterations at the synapsin I (Syn I) locus in the vicinity of the probe sequence.

DNA↗
PubMed1990

The effect of ofloxacin on the immune system of elderly patients.

In twenty elderly patients with infectious diseases, some immune parameters were evaluated before and after treatment with ofloxacin. Results showed that the number of T cells, B cells, gamma-Interferon plasma concentrations and serum immunoglobulin levels were not affected following ten days treatment (600 mg/per day). These data suggest that this antibiotic does not affect the immune parameters studied. However, inhibition of other immune functions cannot be excluded.

Aged↗
PubMed1989

Clinical and immunological assessment in HIV+ subjects receiving inosine-pranobex. A randomised, multicentric study.

Inosine-pranobex (methisoprinol, isoprinosine; INPX) is the p-acetamidobenzoic salt of N,N-dimethylamino-2-propanol and inosine in a 3:1 molar ratio. In early studies, INPX was found to partially inhibit human immunodeficiency virus (HIV) and to increase the immunocompetence of HIV-infected subjects in vitro. We report the results of a randomised, multicentric clinical trial carried out on 553 HIV+ patients. 261 individuals were treated with INPX (two 500 mg tablets every 6 h for 3 months) and the remaining 292 constituted the untreated control group. INPX treatment was associated with a slightly improved clinical condition or with a trend in that direction, as compared to the untreated group. A preservation of the CD4/CD8 cell ratio values, a decrease in the CD8+ cells and an increase in the Leu 2-7+ cell number better than in the untreated individuals was also observed in the patients taking INPX. No serious or adverse effects of INPX have been observed.

Acquired Immunodeficiency Syndrome↗
PubMed1989

[The multitest in evaluating cellular immunity].

It has been recently shown that the skin has a really active role in the immune system. The evaluation of delayed cutaneous hypersensitivity is an important step for the screening of the cell-mediated immune response. The multitest system contains seven antigens and 1 control put together in the same instrument. The results obtained with multitest are more reliable than those with monoantigenic systems. The Authors studied 138 patients affected by diseases with presumable cell-mediated immune deficiency. The comparison between clinical suspicion of immune deficiency, laboratory tests, and multitest showed statistically the usefulness and reliability of this test as a part of the screening for cellular immune deficiency.

Evaluation Studies as Topic↗
PubMed1988

Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin.

As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthyretin (TTR) related to familial amyloidotic polyneuropathy (FAP) of different ethnic origins, studies were carried out on TTR from two FAP kindreds of Italian origin. Two different criteria were employed in the characterization of TTR from these kindreds: (1) immunoblotting of cyanogen bromide fragments for screening of TTR(Met30) and (2) isoelectric focusing. TTR(Met30) was not detected but other substitutions were demonstrated using isoelectric focusing techniques. One of the variants found is a basic TTR variant. The substitutions occurring in the variant TTRs of these two kindreds are not known and are presently under study.

Amyloidosis↗
PubMed1988

Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies.

The indirect approach to carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophies based on the study of DNA polymorphisms closely linked to this gene has been followed by five Italian laboratories in the study of 106 pedigrees. Out of 354 women studied up to 1 May 1987, 147 were identified as carriers because of pedigree information and/or of increased creatine phosphokinase (CPK) values. Of the remaining 207, 184 could be assigned to three arbitrarily defined risk categories (low, intermediate and high) using linkage analysis. This disaggregation of women at risk is clearly more useful than that defined before DNA analysis, in which the same 184 women could be assigned only to the low or intermediate risk categories. Prenatal diagnosis was theoretically possible in 90% of carrier women, and was actually performed in 14 pregnancies, which led to the identification of four affected male foetuses, one also having Down syndrome.

Chromosome Deletion↗