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Biomedical subjects

G Sortino

Publications and source records attributed to G Sortino.

At least 19 recordsLinked to original sources

Identification of a new allele in a Sicilian individual: HLA-DPB1*0302.

We report here the identification and characterization of a novel human leucocyte antigen (HLA)-DPB1 allele that was subsequently named HLA-DPB1*0302 by the WHO Nomenclature Committee. HLA-DPB1*0302 was identified in a single Sicilian individual by a combination of sequence-specific primers, reverse line sequence-specific oligonucleotide probing and DNA sequencing-based typing. The DPB1*0302 allele is most similar to the DPB1*3101 allele, differing by a single mismatch at nucleotide position 301 (T to G).

Alleles↗

Elevated vascular endothelial growth factor (VEGF) serum levels in idiopathic myelofibrosis.

An increase of angiogenesis has been shown in idiopathic myelofibrosis with myeloid metaplasia (MMM) by microvessel density count method but evaluation of circulating angiogenic factors is still incomplete. In 31 patients affected by MMM and in 12 healthy subjects we evaluated the serum levels of VEGF (vascular endothelial growth factor) and correlated VEGF with clinical and laboratory features of disease. We found that MMM patients had circulating VEGF concentrations much higher than controls (Median 1208 ng/ml vs 138 ng/ml, P < 0.0001). No correlation was found between VEGF and Hb, WBC, PLT, LDH, creatinine, bone marrow cellularity, fibrosis, splenomegaly, hepatomegaly, and therapy. However, in the subgroup of patients with a normal or low VEGF concentration, a direct correlation between VEGF and platelet count (r = 0.90, P = 0.002) was detected. Moreover, patients with a platelet count < 300 x 10(9)/l had VEGF serum levels lower than patients with a higher PLT count (median VEGF 864 vs 1557 pg/ml, P = 0.001). In six patients and in eight controls we also had the opportunity to measure VEGF in the plasma and we calculated that VEGF concentration was much higher in platelet-rich than in platelet-poor plasma and that platetets of MMM patients contained four times more VEGF than those of healthy controls. These results indicate that VEGF is overproduced in MMM, thus confirming an increased angiogenic activity. Platelets are probably a major source of VEGF in MMM but not the only one.

Adult↗

Recurrent pelvic pain in women.

We conducted a prospective survey from January to September 1999 on a random population from the city of Turin, Italy, to highlight pain pathologies at various ages and possible differences between sexes. By means of a questionnaire, women were asked about age, profession, marital status, menstrual pain, type of delivery, number of children, onset and presence of pain of any type. Pain-related questions included its characteristics, familial tendencies, treatment, type, duration, daily and monthly quantity of medication taken, habits, previous pathologies, or surgical operations. A control group of men was investigated.

Adult↗

Angiogenic factors in multiple myeloma: higher levels in bone marrow than in peripheral blood.

BACKGROUND AND OBJECTIVES: To study the role of some soluble factors in the process of angiogenesis that accompanies multiple myeloma (MM). DESIGN AND METHODS: The concentrations of three well-known angiogenic peptides, vascular endothelial growth factor (VEGF), basic fibroblast growth factor (bFGF), and hepatocyte growth factor (HGF) were evaluated by an ELISA method. All of these factors were measured in the plasma obtained from peripheral blood (PB) and bone marrow (BM) aspirates of 34 patients affected by plasma cell disorders. This series included one patient with a solitary extramedullary plasmacytoma, 17 patients with MM at diagnosis, and 16 with previously treated MM. RESULTS: In all the patients, the concentration of each angiogenic factor was higher in bone marrow than in peripheral blood. Mean values of the three angiogenic factors in BM or in PB were lower in stage I than stage II-III. One patient with extramedullary solitary myeloma had high levels of VEGF and bFGF but this increase was not found in the other 6 patients with extramedullary disease when compared with patients without extramedullary disease. VEGF and bFGF did not correlate with each other while HGF showed a weak correlation with VEGF and a stronger one with bFGF. Moreover, VEGF correlated with features of disease activity, such as C-reactive protein, and 2-microglobulin, while both bFGF and HGF showed an inverse correlation with albumin level. No correlation was found between VEGF, bFGF and HGF levels and age, M protein level, osteolytic lesions, or percentage of BM plasma cells. Since angiogenic factors may be released by normal cells in response to hypoxia, we also evaluated erythropoietin (EPO) levels (which correlate with the hypoxic stimulus) both in PB and BM plasma of these patients but none of the measured angiogenic factors correlated with EPO levels. Interpretation and Conclusions. Several soluble factors may play a role in the angiogenic activity described in MM but their contribution to the progression of disease may be different. The finding of higher levels of these factors in BM than in PB might indicate that the bone marrow environment is their major source. Concentrations of angiogenic factors parallel the activity of disease and are independent of the hypoxic stimulus.

Adrenal Cortex Hormones↗

[Nimesulide: multicenter clinical study for evaluation of its therapeutic effect in odontostomatology].

A Polycentric Study was carried out so as to assess the anti-inflammatory effectiveness and pain-killing activity of Nimesulide in Odontostomatological practice, in 78 patients suffering from alveolo-gingival and parodontal abscesses, consequences of tooth extraction, suppurated radicular cysts, dysodontiasis, osteitis, periodontitis, periostitis. The results obtained confirm the anti-inflammatory and analgesic effect as well as the good tolerability of this drug.

Administration, Oral↗

Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow.

Hemoglobin beta-like gene cluster haplotypes defined by restriction enzyme polymorphic sites are useful in determining the origin of the beta S gene found in several human populations. We present here evidence that the beta S gene found among Sicilians is associated with the same haplotype observed among sickle cell anemia patients from Central West Africa. In addition, this haplotype is either nonexistent or very rare among normal Sicilian individuals. We conclude that the beta S gene was introduced to Sicily from North Africa and that the gene flow originated in Central West Africa and traveled north through historically well-defined trans-Saharan commercial routes.

Anemia, Sickle Cell↗

Heterogeneity of haplotypes among patients with severe Cooley disease in Eastern Sicily.

There is a large variation of clinical severity among thalassemic patients in Sicily. A heterogeneous molecular basis has already been demonstrated among the patients presenting with thalassemia intermedia. The same approach, based mostly on linked haplotypes of the beta gene cluster polymorphisms and in some cases on the demonstration of the molecular defect itself, was used to investigate 55 patients presenting with severe Cooley anemia, all maintained under permanent transfusion regimen. A large heterogeneity was demonstrated in the observed haplotypes, and only a limited overlap with those already found in thalassemia intermedia. It has been noted that many of the patients are compound heterozygotes, the various observed associations making the antenatal diagnosis at the DNA level difficult in the near future.

Adolescent↗

Haplotype VI associated beta + thalassaemia intermedia. First Italian case.

We report the study of a family originating from eastern Sicily with mild beta thalassaemia intermedia which is similar both at a molecular level and in clinical form to that called "beta + thalassaemia intermedia-Portuguese type". Our patients were homozygous beta + thalassaemics with high HbA2 and low HbF levels. The mild clinical course was as a result of their age and because regular blood transfusion was established only in adulthood. All of the heterozygote parents were asymptomatic with a blood picture and haemoglobin pattern typical of beta thalassaemia. Studies at a molecular level revealed no abnormalities in the beta-like globin gene cluster and excluded the presence of a deletional form of alpha thalassaemia. Restriction enzyme site polymorphisms around the beta gene cluster showed that all patients were homozygous for the haplotype described as VI. Comparison of these homozygous haplotypes with the Portuguese ones revealed a clear difference in the polymorphic Pvu II site. In all Sicilian homozygous cases, this site was present on one chromosome and absent on the other. Therefore our hypothesis is that Portuguese beta + thalassaemia intermedia is different from the Sicilian type.

Adult↗

A leftward deletional alpha+ thalassemia found in East Sicily in conjunction with heterozygous beta-thalassemia.

Two types of alpha+ thalassemia (-alpha l) have been described, respectively termed leftward and rightward, which correspond to nonhomologous crossing-over in different homology zones X and Z within the alpha-globin gene cluster. Up to now the leftward type has been described only in Asiatic populations, whereas the rightward type is universally distributed. We report here a first case of leftward deletion observed in a Sicilian male. This raises the question of an identical or not crossing-over event.

Aged↗

T-subset abnormalities in thalassaemia intermedia: possible evidence for a thymus functional deficiency.

Peripheral blood T-lymphocyte subsets, evaluated by means of a series of monoclonal antibodies, were assessed in 14 patients affected by thalassaemia intermedia, 7 of them previously splenectomized. A significant reduction of T+4 cells ('helper' T cells) was found in almost all patients, whereas T+8 cells ('suppressor/cytotoxic') showed a marked increase only in splenectomized subjects. Together with these quantitative T-subset abnormalities, which seemed to be partly affected by either splenectomy or high serum iron levels, an unusual circulating T-cell subpopulation labelled by T6 monoclonal antibody was detected in all patients. Complete disappearance of T+6 cells ('thymocyte-like' T lymphocytes) and normalization of the T4/T8 ratio was observed after 'in vitro' incubation of patient's lymphocytes with a crude thymus extract (Thymostimulin). This would suggest the presence of a so far unreported thymus-dependent defect of T-lymphocyte phenotypic maturation occurring in thalassaemia intermedia.

Adolescent↗

[HbA2 evaluation: comparison between microchromatography on a DEAE cellulose column and conventional cellulose acetate electrophoresis].

Even if different methods were employed in Hb A2 level detection, so far the borderline values between normal and pathological "range" depend on the different laboratories and techniques. The Authors report here an investigation carried out on Hb A2 levels using two different methods: the chromatographic technique by DEAE cellulose column, and the cellulose acetate electrophoresis. The investigation regards 46 normal and 50 beta-thalassemia obligate carrier samples. The results demonstrate that chromatographic technique provides a lowest misclassification rate with a greater reliability. Therefore the use of the microchromatographic procedure for beta-thalassemia screening is recommended.

Chromatography, DEAE-Cellulose↗

[Use of a particular cellulose acetate supporting agent in the electrophoretic evaluation of human hemoglobin].

576 subjects of whom 450 with hereditary anaemia and 116 normal are studied to establish the haemoglobin pattern. The assay is carried out using the standard cellulose acetate and an particular cellulose acetate medium cellogel RS "Wedge". The results show that cellogel RS in comporation with standard medium permits either an better resolution of the hemoglobin bands or a better detection of the pathologic bands.

Anemia↗

[Bidimensional electrophoresis of factor VIII antigen on cellulose acetate].

It is described two-dimensional immunoelectrophoresis using cellulose acetate as supporting medium compared with agarose gel method. The results show that the determination of the FVIIIR: Ag on cellulose acetate is a technique more simple and rapid than agarose gel method and many free from the technical failure.

Antigens↗

[Use of a particular cellulose acetate supporting agent in the electrophoretic evaluation of urinary proteins].

It is compared an electrophoretic study between unconcentrated and concentrated urine samples on cellulose acetate and immunoelectrophoresis. The study shows that the findings carried out on cellulose acetate are overlapped with the immunochemical methods therefore the cellulose acetate may be preferred an useful medium on the electrophoretic assay of the unconcentrated urinary proteins without concentration.

Diabetes Mellitus↗