PubMed Health⌕ Search

Biomedical subjects

C Cianchetti

Publications and source records attributed to C Cianchetti.

At least 37 records · Page 2Linked to original sources
PubMed1993

Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis.

OBJECTIVE: To study the role of HLA genes in susceptibility and resistance to multiple sclerosis (MS) in Sardinian patients. To verify whether HLA-DQA and HLA-DQB genes differed between unrelated (MSU) and related (MSR) patients, and whether relapsing-remitting and chronic progressive forms of MS are immunogenetically distinct entities. DESIGN: Case-control study of HLA-DQA and HLA-DQB gene frequency. SETTING: All patients investigated were followed up by our MS referral centers. PATIENTS: The study involved 116 MSU patients, 67 of whom had a relapsing-remitting form (MSr), 28 of whom had a chronic progressive from-the-onset form (MSc), and 21 of whom had a benign form (MSb), 32 patients with MSR, 19 parents and 27 healthy siblings of patients with MSR, and 86 controls. Selection of patients was random, while control subjects came from families without known immunologic diseases. All patients had definite MS. MAIN OUTCOME MEASURE: Statistical analysis of gene frequencies was conducted with the chi 2 test with correction (Pc) for the alleles investigated, as was decided before the study began. RESULTS: The DQA1*0301 allele was found to be increased in patients (MSU vs controls, Pc = .008; patients with MSc vs controls, Pc = .001; patients with MSR vs controls, Pc = .02; and parents vs controls, Pc = .04), while the DQA1*0102 allele was found to be diminished in patients with MSr vs controls (Pc = .001). Among the DQB genes, the DQB1*0502 allele was diminished in patients with MSr vs controls (Pc = .04), while the sum of DQB1*0201 and *0302 alleles was significantly increased in patients with MSR vs controls (Pc = .003). CONCLUSION: Both HLA-DQA and HLA-DQB genes influence genetic susceptibility and resistance to MS. The roles of these genes differ in the various forms of MS. Patients with MSU and MSR both share HLA-DQA susceptibility genes.

Adolescent↗
PubMed1993

Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.

Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was studied in 19 patients with Xp21 disorders and in 25 individuals with non-Xp21 muscular dystrophy. Antibodies raised to seven different regions spanning most of the protein were used for immunocytochemistry. In all patients specific dystrophin staining anomalies were detected and correlated with clinical severity and also gene deletion. In patients with Becker muscular dystrophy (BMD) the anomalies detected ranged from inter- and intra-fibre variation in labelling intensity with the same antibody or several antibodies to general reduction in staining and discontinuous staining. In vitro evidence of abnormal dystrophin breakdown was observed reanalysing the muscle of patients, with BMD and not that of non-Xp21 dystrophies, after it has been stored for several months. A number of patients with DMD showed some staining but this did not represent a diagnostic problem. Based on the data presented, it was concluded that immunocytochemistry is a powerful technique in the prognostic diagnosis of Xp21 muscular dystrophies.

Adolescent↗
PubMed1992

Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.

The majority of Duchenne muscular dystrophy (DMD) female carriers show dystrophin immunostaining abnormalities, although a significant proportion of clinically non-manifesting carriers are normal following this analysis. We had the opportunity to study dystrophin immunostaining in two different muscles, the vastus lateralis and the rectus abdominis of a possible DMD carrier. While the vastus showed normal dystrophin immunostaining, pathological staining was detected in her rectus abdominis. These findings seem to indicate that dystrophin expression can vary in different muscle groups of a DMD carrier. The implications of these findings in DMD carrier detection and possible dystrophin function are discussed.

Adult↗
PubMed1992

HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles.

We studied HLA-DQB1 haplotypes in 103 unrelated multiple sclerosis (UMS) patients and in 26 related (RMS) patients from 12 families from Sardinia, Italy, where the disease was associated with the HLA-DR4 allele. Using polymerase chain reaction and allele-specific oligonucleotide probes, we found in UMS an increased frequency of the DQB1 *0201 (p = 0.010) and DQB1 *0302 (p = 0.025) alleles, whereas the DQB1 *0301 allele was significantly decreased (p = 0.027). In RMS, only the DQB1 *0302 allele was increased (p = 0.047), and no difference was found in the DQB1 *0301 allele. For DQB haplotypes, an increased frequency of DQB1 *0302/*0502 (p = 0.026) and a decreased frequency of DQB1 *0201/*0601 (p = 0.009) and DQB1 *0502/*0502 (p = 0.025) was found in UMS patients, whereas RMS patients showed an increased frequency of DQB1 *0301/*0302 (p = 0.005). Because DQB1 *0201 and *0302 alleles are increased in Caucasian MS patients, where the disease is related to HLA-DR2 and where a primary association with the HLA-DR2, DQB1 *0602 allele has been reported, we conclude that Caucasian and Sardinian populations share HLA-DQB1 *0201 and *0302 alleles in genetic susceptibility to MS.

Alleles↗
PubMed1991

Neuropsychological, psychiatric, and physical manifestations in 149 members from 18 fragile X families.

One hundred forty-nine subjects from 18 families with fragile X [fra(X)] syndrome were evaluated for their neuropsychological, psychiatric, and physical characteristics. The 36 fra(X) males had intelligence quotients ranging from less than 20 to 61, which prevented the delineation of a reliable neuropsychological profile. Behaviour fitted DSM-III-R and ADI diagnostic criteria of autism in only 2 subjects, both with very low intelligence level (IQ less than 20). Of 36 heterozygotes (HZ), 22 had an IQ between 20 and 80 and 14 between 81 and 99. The neuropsychological profile of the latter was compared with IQ-age-environment-matched 14 normal females and 14 normal males. Significantly poorer results in HZ were found on immediate digit memory and on Raven's progressive matrices (a visuo-spatial test of logical capabilities). The latter result, in conjunction with those results on the Bender visual-motor gestalt test and on some WAIS subtests, suggests a frequent deficit in spatial capabilities in such subjects. Such results tended to be confirmed by the profiles of the 22 HZ with IQ 20-80. No psychiatric abnormalities were found in HZ, except in one subject with IQ less than 20 which fitted DSM-III-R and ADI criteria for autism. Typical physical manifestations, especially cranio-facial, were more frequently present in the HZ group with lower IQ. Subnormal IQ was probably the most reliable abnormality for the detection of HZ in 49 females at 50% and 25% risk of heterozygosity.

Adolescent↗
PubMed1986

Cerebrospinal fluid lymphocyte subpopulations in multiple sclerosis.

T3+ (all-T) and T8+ (suppressor/cytotoxic) cells were studied in cerebrospinal fluid (CSF) from 24 patients with multiple sclerosis (MS) and from 24 subjects with various "non-immunological" disease (NID). MS patients were classed as (a) during the acute phase of the 1st episode of the disease, (b) in acute relapse, (c) with chronic progressive disease, (d) with increased or (e) normal CSF IgG content or (f) with neurological impairment (Kurtzke scale) less than or equal to 3 or (g) greater than 3. In MS cases considered as a whole a significant decrease in CSF T3+ cells was found compared to NID patients. When single groups were considered, T3+ cells decrease was significant in classes (b), (d) and (f). Significantly lower percentages of T8+ cells, compared to NID, were found in MS classes (a), (d) and (f).

Adolescent↗
PubMed1986

Subacute sclerosing panencephalitis in Italy. An epidemiological study.

An epidemiological inquiry in Italy led to the collection of 207 cases of subacute sclerosing panencephalitis (SSPE) with onset during the decade 1972-1981, with a mean incidence rate of 0.37 cases per year per million total population (CYMTP) and 1.24 cases per year per million young population aged 0-19 years (CYMYP). A striking difference was found among the 20 Italian regions, with a minimum of no cases in three regions, and a maximum incidence of 2.46 CYMTP (6.67 CYMYP) in Sardinia. The male/female ratio was 1.8/1. The mean age at SSPE onset was 10.6 (+/- 4.0) years in Italy, and was significantly lower in Sardinia (8.8 +/- 2.8). The mean age of measles was 2.8 +/- 1.7 years (in 106 cases), significantly lower than the mean age of measles in the general population. Moreover, the age of measles was significantly lower in males than in females, and this could represent a factor contributing to the higher SSPE incidence in males. The interval between measles and SSPE onset was significantly lower in Sardinia (mean 5.6 +/- 2.5 years). In Italy, as in other Mediterranean countries, SSPE incidence is higher than expected and unevenly distributed, suggesting that environmental factors play a role.

Adolescent↗
PubMed1986

Lymphocyte subsets at different stages of subacute sclerosing panencephalitis: a study with monoclonal antibodies.

Lymphocyte subsets in cerebrospinal fluid (CSF) and peripheral blood were studied using monoclonal antibodies, in patients with subacute sclerosing panencephalitis, eight of whom were at stage 2 and seven at stage 4. Eighteen subjects affected with non immunological diseases constituted the controls. Regardless of the stage, patients with subacute sclerosing panencephalitis had lower percentages of OKT3+ (pan-T) cells in both CSF and peripheral blood, with an increase of OKIa+ cells (B cells, macrophages and active T cells) in peripheral blood. A difference was found in the proportion of OKT4+ (helper-inducer) and OKT8+ (suppressor/cytotoxic) cells in relation to the stage, the most striking finding being a significant decrease of OKT8+ with an increase of T4/T8 ratio in peripheral blood at an early stage.

Antibodies, Monoclonal↗
PubMed1985

Subacute sclerosing panencephalitis and hypoparathyroidism.

Subacute sclerosing panencephalitis (SSPE) occurred in 3 unrelated children affected with different genetic forms of hypoparathyroidism (HPT). Clinical or laboratory evidence of an immunological deficit before SSPE onset was ascertained in cases 1 and 3. At the onset of SSPE, all cases showed signs of increased central nervous system (CNS) excitability due to poorly regulated blood calcium levels, and cases 1 and 2 had papilledema. Epidemiological evaluation suggests that the association of SSPE and HPT is not accidental. In HPT, both a subtle immunological deficit and CNS involvement may be predisposing factors of SSPE.

Child↗
PubMed1984

Sleep pattern alterations by naloxone. Partial prevention by haloperidol.

A continuous intravenous infusion of the opiate receptor antagonist naloxone, at doses ranging from 0.7 to 1.0 micrograms/kg/min (total dose 8.8-13.2 mg), was performed in eight normal subjects during the first 240 min of night sleep. A significant reduction in stage REM and in stage 4 percent duration was observed. Pretreatment with the dopamine receptor blocking agent haloperidol (2 mg intramuscularly before sleep onset) partially prevented the naloxone effect, suggesting that it is due, at least in part, to the stimulation of dopamine receptors.

Adolescent↗
PubMed1983

Surface markers on lymphocytes from human cerebrospinal fluid. Identification by monoclonal antibodies.

Lymphocyte subpopulations in cerebrospinal fluid (CSF) and peripheral blood (PB) were studied using monoclonal antibodies and the common membrane markers. The results in three groups of patients were compared: 36 subjects with 'non-immunological disorders' (NID), 14 subjects with multiple sclerosis (MS) and 6 with subacute sclerosing panencephalitis (SSPE). It was found that, in patients with NID, (1) 90% of cells were T lymphocytes, reactive with OKT3; (2) the helper/suppressor (T4/T8) ratios were the same in the CSF and the PB; (3) the OKIa1 percentage was lower in the CSF than in the PB; and (4) only a few cells were 'immature', reacting with OKT10. Using the membrane markers (E rosettes, Fc IgG receptors and surface immunoglobulins), on the other hand, it was noted that the majority of cells in the CSF were identified as suppressor T lymphocytes and surface immunoglobulin-positive B cells were less common than the Ia1 marker suggested. There were no significant differences between the CSF results in patients with NID and MS but the OKT3 lymphocytes were reduced in CSF samples from patients with SSPE.

Adolescent↗
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↗
PubMed1980

Suppression of REM and delta sleep by apomorphine in man: a dopamine mimetic effect.

Apomorphine, a direct stimulant of dopamine receptors, was given in nonemetic doses by continuous IV infusion for 180-240 min during night sleep in normal subjects. During apomorphine infusion, a significant reduction of stage (S)4 and an abolition of rapid eye movement (REM) sleep occurred. The percent duration of S2 was significantly increased. In the 240 min following interruption of 240-min infusion of apomorphine, a significant increase of S4 and REM percent duration was observed. The effect of apomorphine infusion on sleep was prevented by the administration of haloperidol or sulpiride, two dopamine receptor blocking agents. This suggests that it is due to a dopamine mimetic action.

Adult↗
PubMed1980

Lymphocyte subpopulations in cerebrospinal fluid and peripheral blood in multiple sclerosis.

Lymphocytes subpopulations in cerebro-spinal fluid (CSF) and peripheral blood (PB) from multiple sclerosis (MS) patients were studied. PB of MS patients contains the same prevalence of E and EA rosette forming cells compared with controls, consisting of patients affected by various "nonimmunological" neuropsychiatric diseases. Cytochemical identification by the method of acid esterases in PB demonstrated in MS a prevalence of lymphocyte subpopulations similar to controls, and a relatively high percentage of macrophages compared with other methods, especially in MS patients: this may partially account for variable results obtained by various authors with the rosette technique. In CSF a significant decrease of total T, and particularly of T gamma cells, was found. Since T gamma lymphocytes have a suppressor effect on B cell proliferation and Ig synthesis, their decrease could be related with Ig hypersynthesis commonly found in the central nervous system of MS patients.

Adolescent↗