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M Morellini

Publications and source records attributed to M Morellini.

At least 19 recordsLinked to original sources
PubMed1999

Chromosome 6p-encoded HLA-DR2 determination discriminates migraine without aura from migraine with aura.

Segregation analysis indicates that migraine without aura (MWoA) and migraine with aura (MWA) have multifactorial inheritance, but involved genetic and environmental factors are largely unknown. A controlled study was performed to assess the HLA-driven liability to migraine and to verify if the heterogeneity between MWoA and MWA is HLA-linked. Forty-five migraine patients (31 MWoA, 14 MWA) and 53 healthy blood donors as controls, coming from the same geographic area, were studied. Tissue typing was performed using the standard complement-dependent microlymphocytotoxicity technique for HLA Class I and by PCR-SSP (Sequences Specific Primers) typing for HLA Class II. Data emerging from the present study showed no altered distribution for HLA Class I A, B, C antigen frequency in migraine (MWoA, MWA) if compared to the control group. HLA Class II DR2 antigen showed a decreased frequency in MWA group if compared with both MWoA (p = 0.01) and control group (p = 0.039, RR = 0.21). These results seem to support the hypothesis of a protective role of DR2 antigen in MWA and provide additional basis for the proposed difference within MWoA and MWA.

Adult↗
PubMed1998

HLA and complement factors alleles sharing in Italian couples with recurrent spontaneous abortions.

Recurrent Spontaneous Abortion (RSA) is postulated to be due to several factors including immunogenetic mechanisms. Many studies have been conducted on the effect of the MHC region in the reproductive phenomena suggesting an immunological or genetic involvement in RSA. We studied couples with 3 or more abortions among a larger group of couples in which female partners were anti-cardiolipin antibodies negative, resulting in a population of 43 couples typed for HLA-A, B, C, DR, DQ. In 16 of these 43 couples, complement factors C4A, C4B, and Bf were typed. The data shows a statistically significant increase of C4B*Q0 in RSA patients (N = 32) compared with the control population (N = 44) (pc = .00147) and also a statistically significant increase of C4B*Q0 sharing in aborting couples (43.75%) against the expected sharing rate in the control population (1.86%) (p < .001). Frequency increase of C4B*Q0 allele in aborting population leads to the hypothesis that an imbalance of complement factors expression and activity can have detrimental effects on implantation and embryo survival. Additionally, the significant sharing rate of C4B*Q0 in couples with RSA could indicate the existence of a gene in linked to this allele predisposing to RSA and acting in a recessive manner if present in double copies in the fetus.

Abortion, Habitual↗
PubMed1998

HLA-DR and -DQ alleles in Italian patients with melanoma.

Controversial data have been reported about HLA alleles and susceptibility to melanoma. Our investigation was undertaken to analyze the relationship between HLA alleles distribution in patients with melanoma and susceptibility to the tumor, in order to study the possible correlation between HLA class II DQA1, DQB1 and DRB1 genes involved in immune recognition, and melanoma, usually considered a highly immunogenic tumor. We therefore typed by means of PCR-SSP (sequence-specific primers) 53 Italian patients and 53 healthy random controls coming from the same geographic area. We observed a decrease of all haplotypes bearing DQB1*0301, DQB1*0302 and DQB1*0303 alleles but not of haplotype DRB1*11;DQA1*0501;DQB1*0301. Our results seem to support the hypothesis of a protective role of some DQ3-bearing haplotypic combinations in melanoma.

Alleles↗
PubMed1997

DNA multiallelic systems reveal gene/longevity associations not detected by diallelic systems. The APOB locus.

To identify possible genetic factors affecting human longevity we compared allele pools at two candidate loci for longevity between a sample of 143 centenarians (S) and a control sample of 158 individuals (C). The candidate loci were APOB and TPO, which code for apolipoprotein B and thyroid peroxidase, respectively. Both restriction fragment length (RFL) (XbaI2488 and EcoRI4154) and variable number of tandem repeat (VNTR) (3'APOB-VNTR) polymorphisms were analysed at the APOB locus; the TPO-VNTR polymorphism (intron 10) was analysed at the TPO locus. The main result of the investigation was that there is an association between the APOB locus and longevity that is revealed only when multiallelic polymorphisms are considered. In particular: (i) the frequency of 3'APOB-VNTR alleles with fewer than 35 repeats is significantly lower in cases than in controls; (ii) the linkage disequilibrium between the XbaI-RFLP and the EcoRI-RFLP is significantly different from 0 in cases but not in controls; (iii) the EcoRI-RFLP and XbaI-RFLP allele frequencies do not discriminate between cases and controls. The differences observed between case and control allele pools are specific to the APOB locus, since no significant difference was observed at the TPO locus.

Adult↗
PubMed1994

Isolated precocious pubarche: an approach.

Precocious pubarche (PP) is most often a benign condition secondary to the early appearance of adrenarche. However, PP may be a manifestation of nonclassical adrenal hyperplasia. The incidence of nonclassical adrenal hyperplasia in patients with PP ranges from about 0-40% of cases. Controversy exists as to whether all children with PP should undergo an ACTH stimulation test. The aim of this study was 1) to determine the frequency of mild adrenal enzyme defects in a very large and ethnically homogeneous group of children with isolated PP (typical pubarche); 2) to determine whether clinical data, in particular bone age, and basal hormonal values can help to distinguish patients who are at risk for having adrenal enzymatic defects and thus should have an ACTH test; and 3) to determine which patients diagnosed as having a mild adrenal enzyme defect might require treatment. We studied 171 subjects (135 girls and 36 boys), aged 7 +/- 1.2 (SD) yr, with isolated PP. Thirty-eight normal subjects (18 age-matched and 20 pubertal) were studied as controls. An ACTH stimulation test (Synacthen, 0.25-mg iv bolus) was performed. Blood samples were drawn at baseline and 1 h postinjection. 17 alpha-Hydroxyprogesterone (17OHP), 17 alpha-hydroxypregnenolone (17PGN), dehydroepiandrosterone, androstenedione, testosterone, 11-deoxycortisol, and cortisol were evaluated. Haplotype (HLA) typing was performed in the patients who were diagnosed with nonclassical 21-hydroxylase deficiency (NC21OHD). Using published nomogram standards for the serum 17OHP response to ACTH, 10 patients (5.8%) were diagnosed as having NC21OHD. Seven of 112 patients (6.2%) were diagnosed as having nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency (NC3HSD) on the basis of the following three criteria: stimulated 17PGN levels and stimulated 17PGN/17OHP and 17PGN/cortisol ratios higher than 2 SD above the mean for pubertal controls. None of the patients had stimulated 11-deoxycortisol values greater than 2 SD above the mean of pubertal controls. Nineteen patients (11%) had a stimulated 17OHP response characteristic of the heterozygotes for 21-hydroxylase deficiency. One hundred and thirty-five of 171 patients with no biochemical evidence of an adrenal biosynthetic defect were diagnosed as having precocious adrenarche. Bone age was advanced (> 2 SD for chronological age) in 80% of the patients with NC21OHD, in 71.4% of the patients with NC3HSD, in 58% of the patients classified as heterozygotes, and in 32.6% of the patients with precocious adrenarche. Basal hormone levels were helpful in detecting NC21OHD, but not NC3HSD. All patients with NC21OHD and only 1 with NC3HSD underwent glucocorticoid suppression treatment.(ABSTRACT TRUNCATED AT 400 WORDS)

17-alpha-Hydroxypregnenolone↗
PubMed1992

HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds.

Five families with late onset autosomal dominant spinocerebellar ataxia, were studied. Linkage between the disease and HLA loci on the short arm of chromosome 6 was shown in the two largest pedigrees. Clinical study of 26 patients and neuropathological study in one are reported. The disease was characterized by cerebellar and pyramidal involvement variably associated with cranial nerve and peripheral nervous system disorders. A remarkable concordance of the main clinical features was observed in patients with similar disease duration. Comparison with previous reports of HLA-linked spinocerebellar ataxia kindreds showed differences in clinical phenotypes. Although these might be due to genetic variation, the hypothesis is suggested that the phenotype might appear more homogeneous if disease duration is taken into account.

Adult↗
PubMed1992

Diabetes-related autoantibodies do appear in children with coeliac disease.

Humoral immune factors related to type 1 diabetes have been investigated in children with coeliac disease. Anti-insulin (IAAb), immunoglobulin (alpha IgAb), islet cell (ICA) and glucagon autoantibodies were examined in 15 children with coeliac disease at diagnosis (group 1), in 15 children with coeliac disease following a gluten-free diet (group 2) and in 30 control patients (groups 3 and 4). IAAb were present in 27% of group 1 and in 20% of group 2 patients and alpha IgAb were significantly increased in group 1 and 2 patients; two patients in group 2 were positive for ICA; none of the coeliac disease patients were positive for anti-glucagon antibodies. The levels of anti-gliadin antibodies in group 1 were positively correlated with those of alpha IgAb. Coeliac disease-related HLA antigens were not correlated with antibody presence. The presence of diabetes-related humoral immune factors in coeliac disease raises the question as to whether or not they are predictive of subclinical pancreatic damage or whether they are simply indicators of a more general autoimmune diathesis.

Adolescent↗
PubMed1991

Spinocerebellar ataxia (SCA1) in two large Italian kindreds: evidence in favour of a locus position distal to GLO1 and the HLA cluster.

Two large Italian pedigrees with HLA-linked spinocerebellar ataxia (SCA1) were typed for HLA-A, -B and -DR as well as for markers either distal (F13A, D6S8) or proximal (D6S29, GLO1) to HLA. Pairwise linkage analyses of SCA1 vs. HLA-A, -B, and -DR showed peak lodscores of 5.3, 5.6 and 3.3 respectively at 7% recombination. Negative lodscores significantly excluded linkage with F13A at less than 5% and with GLO1 at less than 10%. The lodscores with D6S8 and D6S29 had only low peaks. Recombination events in the two pedigrees and the estimated genetic distances of SCA1 from GLO1 and HLA favour the hypothesis of a SCA1 location distal to both of them. An order cen-GLO1-HLA-SCA1-tel appears therefore most likely with present data. These results are discussed in relation to previous reports placing SCA1 distal to HLA in two families and

Adult↗
PubMed1991

HLA-DR and DQ antigens and anticardiolipin antibodies in women with recurrent spontaneous abortions.

IgG anticardiolipin antibodies (ACL) have been shown to occur in a high proportion of women with repeated unexplained miscarriages. Forty-nine women with unexplained recurrent spontaneous abortions (RSA), previously assayed for the presence of ACL by an enzyme-linked immunoabsorbent assay, were typed for HLA-DR and DQ antigens by the classical microlymphocytotoxicity test. Twenty-five women were positive for ACL and 24 were negative. HLA-DR7 was found in 24.5% of 49 habitually aborting women vs. 28% of healthy controls; but the DR7 frequency was 40% in ACL positive patients vs. 8.3% in ACL negative patients (P = 0.011). These results show that in the Italian population an association between HLA-DR7 antigen and ACL is present in women with unexplained RSA, suggesting that HLA-DR genes might control the susceptibility to specific autoantibody production.

Abortion, Habitual↗
PubMed1991

[Correlations between individual and familial variables in Turner's syndrome].

In 20 cases of Turner's syndrome (10 with complete X monosomy, 10 with partial X monosomy or mosaicism) aged 3.47 to 15.5 years, the stature of the individual cases and their parents were evaluated. A significant frequency of short stature in mothers (25% below--2.0 S.D.S) has been observed, with a significant difference compared to the mean female stature of the general population. No significant difference has been observed on the stature of fathers. There was a closer correlation with mother's height (r = 0.65, p = 0.001) than with father's height (p = 0.07).

Adolescent↗
PubMed1990

Beta 2-microglobulin levels in celiac disease.

The serum levels of beta 2-microglobulins (beta 2-m) were studied in 65 celiac children. Significant statistical differences (p less than 0.05) were found between the values of patients on a gluten-containing diet (mean +/- SD, 1.92 +/- 0.64 mg/L) and those on a gluten-free diet for less than (mean +/- SD, 2.38 +/- 0.76 mg/L) or greater than (mean +/- SD, 1.46 +/- 0.77 mg/L) 8 months. A significant difference was also found between the first group and the 15-subject control group, who underwent intestinal biopsy for low stature or chronic diarrhea but had normal intestinal mucosa (mean +/- SD, 1.56 +/- 0.42 mg/L). Serum beta 2-m levels were above normal values (less than 2 mg/L) in 10 of 26 (38.5%) celiac patients on a gluten-containing diet and in two of 15 (13.3%) subjects of the control group. The beta 2-m values of patients on a gluten-free diet for less than or equal to 8 months were significantly different (p less than 0.001) from those of patients on a gluten-free diet for greater than 8 months, as well from those of the control group. No significant differences were found between patients on a gluten-free diet for greater than 8 months and the control group. A significant correlation between the antigliadin antibody (AGA) IgA and beta 2-m in the patients on a gluten-free diet for greater than 8 months and control-group patients was found.(ABSTRACT TRUNCATED AT 250 WORDS)

Celiac Disease↗
PubMed1989

Humoral and cellular immunological factors as possible markers of clinical relapse in HLA-typed Graves' patients followed with time.

Humoral and cellular immune factors were studied in 33 newly diagnosed Graves' patients at diagnosis and in 12 of these patients at regular intervals thereafter. All the patients were treated with carbimazole for 15 months (initially 60 mg and then 20 mg supplemented with L-Thyroxine). The incidence of relapse after treatment was 42%. Thyrotropin receptor antibodies (TRAb), T-cell subsets, K and NK cells and mononuclear cells expressing surface antigen markers of different activation were evaluated respectively by the use of a radioimmunoassay and a panel of monoclonal antibodies. Patients in the follow-up study were HLA-A, B, C and D typed. TRAb levels (91%) and levels of 4F2-positive cells (73%) and class II-positive lymphocytes (69.6%) were significantly increased in newly diagnosed Graves' patients in comparison with normal controls, whereas CD8 cells were significantly decreased. There was a significant inverse correlation between the increase in 4F2-positive cells and TRAb values. In the follow-up study both humoral and cellular immunological parameters showed a wide variation in levels, but TRAb, 4F2 and L243 values declined on average with respect to diagnosis. After 15 months some patients still showed abnormal values of activated T cells and TRAb values. All patients who relapsed (42%) after medical treatment showed a significant increase of 4F2-positive cells, and some of TRAb, some time before the appearance of clinical symptoms. Finally, no correlation was found between HLA type and relapse of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1989

Expression of class II MHC antigens in the intestinal epithelium of pediatric celiac disease.

Class II MHC antigen expression in the intestinal epithelium of 28 small bowel biopsies from 23 celiac patients were studied by means of indirect immunofluorescence and immunoperoxidase using monoclonal antibodies. Patients were divided on the basis of diet into two subgroups: 15 subjects on a gluten-containing diet (GCD) and 13 on a gluten-free diet (GFD). The control group included 10 pediatric subjects with normal intestinal mucosa who underwent intestinal biopsy for chronic diarrhea or short stature. DR antigens and invariant chain were expressed in all patients, regardless of the diet, as well as in the control subjects. DQ was found in one patient only on GCD. DP antigens were present in 12/15 patients on GCD, and in 2/13 on GFD (Fisher's exact test, p = 8.8 x 10(-4), as well as in 3/10 control subjects. In 4/5 celiac patients, DP antigens, which were undetectable on GFD, could be demonstrated after gluten challenge. The results of the study show that DR antigens are expressed by intestinal mucosa of celiac patients independently of their gluten exposure and that DQ antigens are consistently undetectable. Statistically significant differences in expression of DP antigens on enterocytes of celiac patients on GCD and their neoexpression after gluten challenge may represent a basis for further investigation.

Adolescent↗
PubMed1988

HLA antigens, epilepsy and cytomegalovirus infection.

Thirty-one epileptic patients, selected from among 900 children with previous febrile convulsions and subsequent epilepsy, were typed for HLA antigens. In 16 of the 31 patients CMV was isolated from the urine shortly after the appearance of spontaneous fits; in the remaining 15 patients the virus was never detected. All the examined children were typed for 14 HLA-A, 23 HLA-B, 7 HLA-C and 9 HLA-DR specificities, and compared with a group of healthy subjects. The HLA-A11 antigen was present in 25% of the children with chronic CMV infection and epilepsy, and absent in patients with epilepsy but without CMV infection (p less than 0.02). The possibility that the A11 antigen is a marker of the predisposing genes for CMV infection in children with epilepsy following FC is proposed.

Child↗