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Biomedical subjects

G Gorgone

Publications and source records attributed to G Gorgone.

At least 19 recordsLinked to original sources
PubMed2004

Screening for C677T and A1298C MTHFR polymorphisms in patients with epilepsy and risk of hyperhomocysteinemia.

Hyperhomocysteinemia can result from decreased methylenetetrahydrofolate reductase (MTHFR) enzyme activity, owing to genetic polymorphisms andor inadequate folate intake. This study was aimed at investigating the prevalence of C677T and A1298C MTHFR polymorphisms, and their impact on hyperhomocysteinemia in 95 epileptic patients and 98 controls. Double gradient-denaturing gradient gel electrophoresis screening revealed that the frequency of T677 polymorphic allele was similar between cases and controls (46.3% vs 42.3%), whereas that of C1298 allele was significantly higher in patients (30.5% vs 19.4%, p < 0.05). Significant differences between the two groups were also found for the frequencies of genotypes AA1298 (46.3% in cases vs 67.3% in controls, p < 0.01) and AC1298 (46.3% in cases vs 26.6% in controls, p < 0.01). Other genotype frequencies did not show any statistically significant differences. Haplotype frequencies significantly differed between the two groups. The CT677/AC1298 diplotype was significantly more frequent in epileptic patients than in controls (32.6% vs 18.4%, p < 0.05). Patients treated with enzyme-inducing antiepileptic drugs, having this diplotype and concomitant low folate concentration (i.e., < 3.4 nmol/L), exhibited plasma homocysteine levels significantly higher than normal values (27.1 +/- 2.44 micromol/L, p < 0.001). This increase, however, was lower than that observed in folate-deficient patients with diplotype TT677/AA1298 (41.3 +/- 3.41 micromol/L, p < 0.001). Indeed, these two diplotypes could be regarded as risk factors for hyperhomocysteinemia. Conversely, we found that the CC677/AA1298 diplotype was significantly more frequent in controls (p < 0.01), suggesting a protective role. Our study suggests that both C677T and A1298C MTHFR polymorphisms should be examined when assessing genetic risk factors of hyperhomocysteinemia in epilepsy.

Adolescent↗
PubMed1997

Awareness, treatment and control of hyperlipidaemia, hypertension and diabetes mellitus in a selected population of southern Italy.

The purpose of the present study was to assess the degree of awareness, treatment and control of hyperlipidaemia compared with hypertension and diabetes mellitus in a selected population of southern Italy. All participants to a cardiovascular disease prevention campaign examined between April 1994 and July 1995 were screened for hyperlipidaemia, hypertension and diabetes mellitus. Subjects received also ECG, echo-Doppler of carotid arteries and filled in a questionnaire concerning personal and familial cardiovascular diseases, smoking habit and drug consumption. Of the 742 participants, 327 were found to have hypertension, 73 to have diabetes mellitus, 287 to have mild hyperlipidaemia and 322 to have moderate-severe hyperlipidaemia. Among hypertensive subjects, 60.2% were aware of their condition, 53.5% were treated and 15.6% had their blood pressure controlled at the recommended level (< 140/90 mmHg). Among diabetic subjects, 76.7% were aware, 64.4% treated and 19.2% reached fasting blood glucose level of less than 7.77 mmol/l (140 mg/dl). Only 24.0% of subjects with mild hyperlipidaemia were aware of their condition. Of the subjects found to have moderate-severe hyperlipidaemia, 64.9% were aware, 32.3% were treated and 9.0% had plasma cholesterol and triglycerides concentration of less than 6.45 and 5.65 mmol/l (250 and 500 mg/dl), respectively (cutoffs chosen to separate mild from moderate-severe hyperlipidaemia). These results show that mild hyperlipidaemia is almost neglected whereas awareness of moderave-severe hyperlipidaemia is quite widespread and comparable to that of hypertension and diabetes mellitus. Prevalence of treatment and control of moderate-severe hyperlipidaemia is, however, much lower than that of hypertension and diabetes.

Adult↗
PubMed1995

Regulation of the production of the RANTES chemokine by endothelial cells. Synergistic induction by IFN-gamma plus TNF-alpha and inhibition by IL-4 and IL-13.

Production by endothelial cells of the regulated on activation normal T expressed and secreted chemokine (RANTES) has recently been evidenced during delayed-type hypersensitivity (DTH) reactions and may contribute to the local accumulation of macrophages and CD4+ memory T lymphocytes. To document the mechanism inducing RANTES production in this condition, we analyzed the effect of cytokines known to influence the formation of DTH granulomas. Little or no RANTES was produced after stimulation of HUVEC with IFN-gamma, IL-1 beta, or TNF-alpha. However, the combination TNF-alpha+IFN-gamma induced a strong RANTES production. In situ hybridization experiments with a RANTES probe showed that this synergy was also observed at the mRNA level and that the effect of the combination was mainly to increase the amount of RANTES mRNA per cell. The expression of the luciferase gene under the control of the RANTES gene regulatory elements was analyzed; TNF-alpha and the combination TNF-alpha+IFN-gamma activated the regulatory elements. Sequential treatment of HUVEC with TNF-alpha and IFN-gamma showed that IFN-gamma sensitized HUVEC to the stimulating effect of TNF-alpha. The production of RANTES induced by TNF-alpha+IFN-gamma was partly but significantly inhibited by the Th2-type cytokines IL-4 and IL-13. In contrast, IL-10 had no effect. These results indicate that the microenvironment of DTH granulomas, containing high levels of both TNF-alpha and IFN-gamma, may be responsible for RANTES production by perigranulomatous endothelial cells. Inhibition of this production by Th2-type cytokines may be a mechanism by which these cytokines interfere with the formation of DTH granulomas.

Chemokine CCL5↗
PubMed1995

Identification of an immunologically important hypervariable domain of major outer surface protein A of Borrelia burgdorferi.

The gene for the major outer surface protein A (OspA) from several clinically obtained strains of Borrelia burgdorferi, the cause of Lyme disease, has been cloned, sequenced, and expressed in Escherichia coli by using a T7-based expression system (J. J. Dunn, B. N. Lade, and A. G. Barbour, Protein Expr. Purif. 1:159-168, 1990). All of the OspAs have a single conserved tryptophan at residue 216 or, in some cases, 217; however, the region of the protein flanking the tryptophan is hypervariable, as determined by a moving-window population analysis of ospA from 15 European and North American isolates of B. burgdorferi. Epitope-mapping studies using chemically cleaved OspA and a TrpE-OspA fusion have indicated that this hypervariable region is important for immune recognition. Biophysical analysis, including fluorescence and circular dichroism spectroscopy, have indicated that the conserved tryptophan is buried in a hydrophobic environment. Polar amino acid side chains flanking the tryptophan are likely to be exposed to the hydrophilic solvent. The hypervariability of these solvent-exposed amino acid residues may contribute to the antigenic variation in OspA. To test this, we have performed site-directed mutagenesis to replace some of the potentially exposed amino acid side chains in the B31 protein with the analogous residues of a Borrelia garinii strain, K48. The altered proteins were then analyzed by Western blot (immunoblot) with monoclonal antibodies which bind OspA on the surface of the intact B31 spirochete. Our results indicate that specific amino acid changes near the tryptophan can abolish the reactivity of OspA to these monoclonal antibodies, which is an important consideration in the design of vaccines based on recombinant OspA.

Amino Acid Sequence↗
PubMed1994

[Correlation of waist-to-hip circumference ratio and cardiovascular risk factors in a population of Southern Italy].

AIM: To evaluate the relationship between body mass index (BMI), body fat distribution and some coronary heart disease risk factors like hyperlipidemia, hypertension and cigarette smoking. STUDY DESIGN: Cross-sectional. PLACE: Tiriolo, a little town close to Catanzaro, of prevalent rural economy. PARTICIPANTS: Volunteers, both males and females, aged more than 30 years and living in Tiriolo. MEASUREMENTS: Body weight and height with subjects in ordinary street clothes and without shoes. Systolic (SBP) and diastolic blood pressure (DBP) by a zero-random sphygmomanometer. Total (TC) and HDL cholesterol (HDL-C) using fingerstick capillary sample technology by a Cholestech analyzer. Waist circumference (W), measured midway between the lower rib margin and the iliac crest, and hip circumference (H) measured at the widest point over the greater trocanthers. Smoking habit by questionnaire. RESULTS: Females had higher values of SBP, DBP, BMI and HDL-C and lower of TC/HDL-C ratio and W/H ratio. Age was similar in both sexes. Females had lower prevalence of hyperlipidemia and cigarette smoking and higher prevalence of hypertension. BMI was strongly associated to blood pressure levels whereas W/H ratio was correlated to TC/HDL-C ratio. CONCLUSION: BMI and W/H ratio give complementary information, useful to assess the cardiovascular risk profile. The simplicity and quickness of these measurements should lead to their large utilization both in epidemiological prevention studies and everyday clinical practice.

Adipose Tissue↗
PubMed1993

Cross-reactive antigenic domains of the flagellin protein of Borrelia burgdorferi.

The p41 flagellin of Borrelia burgdorferi is the most common antigen recognized by serum of patients with Lyme borreliosis. This antigen shares amino acid homology, particularly in the amino and carboxy termini, with periflagellar antigens found in other microorganisms including Treponema pallidum. We cloned and expressed the p41 open reading frame in Escherichia coli and expressed it both as TrpE fusion and full-length unfused proteins. Also, we generated deletion constructs of various portions of the gene. Sera from patients with late Lyme borreliosis and secondary syphilis were used to identify the recombinant proteins by immunoblot analysis. Sera from 26 patients with Lyme borreliosis, 20 with secondary syphilis and 10 controls were used to identify cross-reactive domains of the B. burgdorferi flagellin. The variable region (amino acids 131-234) of the protein was recognized by 59% (15/26) of patients with late Lyme borreliosis compared to 30% (6/20) of patients with secondary syphilis and no (0/10) control patients. It appears that cross-reactive epitopes between B. burgdorferi and T. pallidum extend to the variable region of the flagellin.

Borrelia burgdorferi Group↗
PubMed1992

Characterization of a Borrelia burgdorferi dnaJ homolog.

The gene encoding a Borrelia burgdorferi DnaJ homolog, located immediately 3' of the hsp70 gene, was characterized. Although there is a single copy of the dnaJ gene on the spirochetal chromosome, two distinct dnaJ transcripts are detected in B. burgdorferi RNA. RNA blot analysis indicates that the dnaJ gene can be transcribed alone or as part of a larger transcript containing the hsp70 homolog.

Amino Acid Sequence↗
PubMed1992

Borrelia burgdorferi HSP70 homolog: characterization of an immunoreactive stress protein.

The gene encoding an immunoreactive Borrelia burgdorferi HSP70 homolog was isolated and characterized. The predicted amino acid sequence of this spirochetal protein confirms that this gene encodes a member of the HSP70 family of proteins. Although there appears to be a single copy of this gene on the spirochetal chromosome, two distinct transcripts hybridizing to the hsp70 probe are detected in RNA isolated from B. burgdorferi. The amount of spirochetal HSP70 RNA transcripts is shown to be thermally regulated. Antibodies in the serum of three Lyme arthritis patients and cloned T-cell lines isolated from one patient with Lyme arthritis recognize the expressed recombinant HSP70, indicating that it is an immunologically important spirochetal antigen. Antibodies in a rabbit antiserum, as well as antibodies in the serum of two of three Lyme arthritis patients examined, bound to expressed truncated recombinant HSP70s with 250 amino acids deleted from either the amino or carboxy terminus of the protein. However, antibodies in the serum of three Lyme arthritis patients, which were reactive with spirochetal HSP70, did not cross-react with human HSP70 proteins.

Adolescent↗
PubMed1987

Superoxide dismutase activity and reduced glutathione content in cataractous lens of patients with glucose-6-phosphate dehydrogenase deficiency.

In the present research we have assayed the glucose-6-phosphate dehydrogenase, superoxide dismutase activities and reduced glutathione content in human cataractous lenses of 83 Sicilian subjects. Five of 45 males were G6PD deficient, whereas eight of 38 females showed a significant reduction in G6PD by 50%. The five males hemizygous for G6PD defect showed undetectable G6PD activity and low GSH levels in their lenses when compared to cataractous patients without erythrocyte G6PD deficiency; on the contrary, the specific activity of lenticular total SOD was found to be significantly increased. The G6PD and SOD activities as well as GSH levels, in the lenses of eight females with intermediate erythrocyte G6PD levels, were not significantly different when compared to females with normal erythrocyte G6PD activity.

Aged↗
PubMed1987

Hyperprolactinaemia increases intraocular pressure in humans.

Nine female and 2 male hyperprolactinaemic patients (plasma prolactin levels averaging 180-420 ng/ml) were subjected to measurements of intraocular pressure (IOP) either under basal conditions or after water load in comparison with 5 healthy volunteers. Basal values of IOP in hyperprolactinaemic patients were 37.8% higher than those of controls. Moreover, after water load hyperprolactinaemic patients showed a sustained increase in IOP that reached values of pathological significance. These results suggest that prolactin may contribute to the hormonal regulation of IOP in humans.

Adenoma↗
PubMed1986

Familial optic atrophy with sex-influenced severity. A new variety of autosomal-dominant optic atrophy?

A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other subjects (7 males and 9 females) were completely asymptomatic. This family could be an example of a new variety of autosomal dominant optic atrophy characterized by sex-influenced severity.

Adolescent↗
PubMed1986

Penetration of 14C-methisoprinol into rabbit eyes with experimentally induced herpetic keratitis.

The authors studied the penetration of 14C-labelled methisoprinol into ocular tissues (cornea, aqueous humour and iris) in rabbits, in which herpetic keratitis had been experimentally induced. It has been demonstrated that the methisoprinol crosses the corneal barrier. The maximum concentration of the drug in the tissues examined was measured 30 min after the instillation of the drug into the conjunctival sac, and persisted for 60 min, although at a slightly lower level.

Animals↗
PubMed1986

Autosomal dominant cone-rod dystrophy associated with sickle-cell trait in a Sicilian family.

Three Sicilian siblings had a typical cone-rod dystrophy. The same ocular anomaly was probably present in their mother and in the maternal grandmother. The three probands were also carriers of Hb S, but this last anomaly was also present in an unaffected brother. It is concluded that the cone-rod dystrophy of this family is inherited as an autosomal dominant character and that its association with sickle-cell trait is coincidental.

Adolescent↗
PubMed1985

Ocular instillation of naloxone increases intraocular pressure in morphine-addicted patients: a possible test for detecting misuse of morphine.

The effect of conjunctival instillation of naloxone on intraocular pressure has been examined in morphine-addicted patients as compared to non-addicted healthy volunteers. Morphine-addicted subjects showed a lower basal value of intraocular pressure as compared to the control volunteers. The instillation of naloxone caused a normalization of intraocular pressure to a level similar to that of control volunteers. This test seems to be a useful screening method for detecting morphine addiction.

Adolescent↗