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G Fabrizi

Publications and source records attributed to G Fabrizi.

At least 19 recordsLinked to original sources
PubMed1999

Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility.

We have recently assigned a locus for familial psoriasis (PS) susceptibility to the region containing the epidermal differentiation complex gene cluster on chromosome 1q21. Gene S10OA7 maps within this cluster and is reported to be markedly over-expressed in the skin lesions of psoriatic patients. In order to analyse S100A7 as a candidate for PS susceptibility, we have determined its genomic structure regarding exon-intron boundaries and the transcription start site. The gene is organised in three exons and two introns, spanning 2.7 kb. The 5' flanking region contains AP1- and Sp1-binding motifs and a TATA box. We have performed functional assays by using the beta-galactosidase gene as a reporter and have confirmed that this region has strong promoter activity. To search for nucleotide variation within S100A7, we have designed a set of primers to amplify each exon and the gene promoter. Polymerase chain reaction products from 15 unrelated PS patients selected from 1q-linked pedigrees and 25 normal controls have been characterised by single-strand conformation polymorphism and direct sequencing techniques. These analyses have revealed the presence of two polymorphisms in the promoter region (-559G/A and -563 A/G), neither of which shows preferential association with the disease. Our results indicate that S100A7 can be excluded as a candidate for PS susceptibility.

Base Sequence↗
PubMed1999

Skin pathology findings in a cohort of 1500 adult and elderly subjects.

BACKGROUND: No extensive studies are available in the literature on the eventual skin pathology induced by neurologic or systemic diseases in elderly individuals. Other factors, such as health and hygiene, socioeconomic status, and climate can also play an important role. METHODS: Fifteen-hundred subjects (886 women and 614 men; mean age, 67.8 years; range, 39-90 years) were admitted to the Department of Geriatrics at the Oasi Institute between 1992 and 1997; all these subjects were carefully evaluated from a dermatologic point of view. Each subject underwent specialist examinations, routine blood analyses, thoracic X-rays, cerebral computerized tomography (CT) scan, and magnetic resonance imaging (MRI) when appropriate. A group of subjects without significant neurologic or systemic disease, comprising 116 women and 60 men (mean age, 64.5 years; range, range, 40-90 years), was selected and used as a normal control group. Subsequently, our attention was focused on the eventual presence of the following neurologic diseases: Alzheimer-type dementia, vascular dementia, mixed-type dementia, subcortical dementia, Parkinson's disease, vascular brain disease, hemiplegia, etc. Thus, different subgroups were formed on the basis of such diagnostic categories and the frequency of skin pathology in each subgroup was evaluated. RESULTS: Of the 1500 subjects, 1439 stated that they had never been affected by dermatologic disease. No statistically significant difference in frequency of skin pathology was found between normal controls and the different patient subgroups. Unsuspected and singular dermatoses were found, however, such as paraneoplastic syndromes, idiopathic tripe palms, white fibrous papulosis of the neck as an expression of photoaging, conditions induced by former popular traditions of Sicilian culture (anetoderma secondary to the application of Hirudo medicinalis and erythema ab igne), pigmented dermatoses never described before in Italy (prurigo pigmentosa and friction amyloidosis), and nail abnormalities (atypical half-and-half nail, and dyschromic nail changes in multiple system atrophy and in hemiplegia). CONCLUSIONS: The dermatologic screening performed in 1500 patients revealed several unexpected diagnoses and some original observations. Some rare dermatoses were described and certain hypotheses were suggested to explain the peculiar dyschromic changes of the fingernails in multiple system atrophy, the atypical cases of half-and-half nail, and the so-called idiopathic tripe palms associated with psoriasis.

Adult↗
PubMed1999

Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1.

Psoriasis is a chronic inflammatory dermatitis, affecting approximately 2% of the population. Major clinical features include red, scaly patches on scalp, elbows, and knees, with or without severe arthritis. Several putative susceptibility loci have been mapped by parametric and non-parametric linkage analysis to chromosome regions 2p, 4q, 6p, 8q, 16q, 17q, and 20p; however, the most significant results and confirmation of linkage are only available for the 17q and 6p chromosome regions at present. In this study, 22 multiplex Italian families were investigated for linkage to 6p and 17q susceptibility regions, using a set of four microsatellites. These analyses failed to detect significant linkage with any of the examined markers. A genome-wide scan was then performed on one of the largest pedigrees, searching for an additional susceptibility locus. This study disclosed a putative linkage to chromosome 1cen-q21 markers. When these microsatellites were analyzed in the remaining families of the sample, a significant linkage was observed using both parametric and non-parametric methods. The highest two-point lod score value was obtained with D1S305 marker (3.75 at 0 = 0.05). Non-parametric analysis at this locus also demonstrated a significant excess of allele sharing (p = 0.0001).

Chromosome Mapping↗
PubMed1996

Matting of scalp hair.

Matting of the hair is a rare condition characterized by an irreversible tangling of scalp hair. This phenomenon has an uncertain etiopathogenesis, and it is assumed that physical, chemical and electrostatic factors may lead to its onset. In our case, vigorous brushing of the hair can be suggested as the etiological factor of matting.

Adult↗
PubMed1995

Evaluation of adverse cutaneous reactions to aminopenicillins with emphasis on those manifested by maculopapular rashes.

We assessed 195 subjects with histories of adverse reactions to aminopenicillins, using 1) skin tests with penicilloyl polylysine (PPL), minor determinant mixture (MDM), benzylpenicillin (PG), amoxicillin, and ampicillin (read after 20 min and 48 h); 2) patch tests with PG, amoxicillin, and ampicillin; and 3) RAST for penicilloyls G and V. Oral challenges with ampicillin, amoxicillin, and penicillin V were administered to 34/60 patients reporting maculopapular reactions. Immediate hypersensitivity (IH), in most cases for both penicillin and aminopenicillins, was diagnosed (based on skin tests, RAST, or both) in 35 subjects who had suffered anaphylactic shock, or urticaria, angioedema, or both urticaria and angioedema. Thirty-three of the 60 subjects reporting maculopapular reactions presented delayed intradermal and patch-test positivity, indicating delayed hypersensitivity (DH), for ampicillin and amoxicillin, and three were also positive for PG. Diagnoses were confirmed with oral challenges in 18/33. The remaining 27/60 were negative in all allergologic tests, with oral-challenge confirmation in 16. Our findings highlight the importance of the amino group in DH to aminopenicillins. Moreover, the mean time interval between the last reaction and our tests was significantly (P < 0.01) longer in DH subjects (54.96 months) than in those with IH (18.62 months), suggesting that the time of testing is less important in cases of DH.

Adolescent↗
PubMed1995

Suprapubic cystotomy as treatment for severe hemorrhagic cystitis after bone marrow transplantation.

We analyzed the success of suprapubic cystotomy in patients with severe hemorrhagic cystitis after bone marrow transplantation. Seventy-three out of 963 patients developed severe hemorrhagic cystitis which resulted in urinary tract obstruction after high-dose cytoreductive therapy. Eleven patients (15%) failed medical treatment and required emergency suprapubic cystotomy. Three of these patients died of other complications prior to resolution of HC. Of the remaining 8 patients who underwent surgery, 4 are alive. The mortality rate was significantly higher in patients who required surgery than in those who responded to medical therapy. Patients whose HC required surgery also had a greater transfusion requirement than those who responded to medical therapy. We conclude that surgical treatment of severe HC should be undertaken only after failure of medical therapy.

Adolescent↗
PubMed1994

Solution conformation of a pectic acid fragment by 1H-NMR and molecular dynamics.

1H-NMR and molecular dynamics simulations in vacuo and in water of (1-->4)-alpha-D-galacturono-disaccharide were performed. The results of the molecular dynamics simulations showed that the molecule fluctuates between two conformations characterized by different values of torsion angles around the glycosidic linkage and two different intramolecular hydrogen bonds. When these conformations are extrapolated to a regular polymeric structure, they generate pectic acid compatible with a 2(1)- or a right-handed 3(1)-helix.

Biopolymers↗
PubMed1994

Palpebral syringomas and Down's syndrome.

BACKGROUND: Palpebral syringomas have been reported to be more frequent in patients with Down's syndrome than in the normal population. OBJECTIVE: The aim of the present study was to evaluate, in a population of institutionalized patients with Down's syndrome, the prevalence of syringomas and their possible cytogenetic relationships. METHODS: Sixty-one institutionalized patients with Down's syndrome were examined in order to assess the presence of palpebral syringomas. Sixty mentally retarded non-Down's syndrome individuals were used to control group. RESULTS: Fourteen patients, 13 females and 1 male, were found to be affected. The prevalence of syringomas in both sexes was 23%; 42% of all females, and 55% when only adult females were considered, had syringomas. Thirteen of the 14 affected patients had a karyotype of Down's syndrome with free trisomy 21, 1 had a mosaicism 47,XX, +21/46,XX. Histologic examination confirmed the diagnosis in all 4 biopsied cases. A clear-cell pattern was observed only in 1 patient while, sporadically, few tubules showed a central syringial-type cuticula. CONCLUSION: The higher prevalence found in females, as compared to males, can be partially explained by their older age (mean 23.8 vs. 13.9 years). Palpebral syringomas are a common cutaneous pathology in adult females with Down's syndrome.

Adolescent↗
PubMed1992

Structure of (+)-(S)-1,3-dimethyl-6-oxiranyl-2,4-pyrimidinedione showing anti-ASFV activity.

C8H10N2O3, Mr = 182.18, monoclinic, P2(1), a = 6.6405 (7), b = 7.9493 (9), c = 8.3662 (9) A, beta = 103.07 (1) degrees, V = 430.18 (8) A3, Z = 2, Dx = 1.41 Mg m-3, lambda (Cu K alpha) = 1.54184 A, mu = 0.879 mm-1, F(000) = 192, T = 298 K, R = 0.037 for 1247 reflections with Fo greater than or equal to 4 sigma (Fo). The configuration at C7 is S. The pyrimidine-2,4-dione ring is nearly planar [r.m.s. deviation: 0.010 (8) A] and is antiperiplanar with respect to the epoxide ring. This arrangement is stabilized by intermolecular C-H ... O interactions.

African Swine Fever Virus↗
PubMed1992

The relationship between allergy, clinical symptoms and bronchial responsiveness in atopic dermatitis.

Atopic Dermatitis (AD) and asthma are closely associated with respect to epidemiology, hereditary factors and occurrence in the same individuals. Bronchial Hyperresponsiveness (BH), the hallmark of asthma, can also be a physiopathological feature of AD, even in the absence of clinical asthma. We studied 78 subjects with AD. A follow-up study was performed in 27 of these. Data on respiratory and dermatologic symptoms were collected by means of a standardized questionnaire. Skin reactivity was evaluated by prick testing, and in 57 subjects BH was assessed with a methacholine test (Mch). Twenty-one subjects had asthma and 36 showed a positive skin reaction. A PC20 FEV1 was measurable in 38 subjects. Males were found more likely to be Mch responders than females (p < 0.05). Mch responders also showed an earlier age at onset of AD than nonresponders (2.1 yrs vs. 6.2, p = 0.03). Determinants of the degree of BH were evaluated by a stepwise multiple regression analysis, taking the log of the slope of the concentration response curve as dependent variable. In the final model we found that the degree of BH was directly related to wheezing (p = 0.0017) and coughing (p = 0.04) and inversely related to lung function (p = 0.0082) and age (p = 0.0008). Neither skin reactivity nor grading of AD were statistically significant. The longitudinal study demonstrated that the courses of AD and BH seem to run parallel only in skin-negative subjects, whereas an increase in BH was observed in skin-positive subjects.

Adolescent↗
PubMed1991

The clinical aspects of adult hexosaminidase deficiencies.

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.

Adolescent↗