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Biomedical subjects

G Borroni

Publications and source records attributed to G Borroni.

At least 91 records · Page 5Linked to original sources

Normal sensitivity to mutagens, spontaneous chromosome breakage, and mutation frequency in nevoid basal cell carcinoma syndrome.

Genetic instability in nevoid basal cell carcinoma syndrome (NBCCS) was investigated by measuring in lymphocytes obtained from four patients the level of UV-induced DNA repair synthesis, the DNA replication rate after treatment with different mutagens (UV light, mono- and bifunctional alkylating agents), the baseline mutation frequency, and the spontaneous chromosome breakage. All the parameters analyzed showed normal values; only the response to mitogens in NBCCS lymphocytes was delayed in comparison to that in normal donors. Our findings indicate that chromosomal instability and cellular UV hypersensitivity described in some NBCCS patients are not distinctive and constant features of NBCCS.

Adolescent↗

Relapsing eruptive multiple Spitz nevi or metastatic spitzoid malignant melanoma?

An unusual case of multiple relapsing Spitz nevus (SN) in a patient with pseudohypoparathyroidism is described. It arose initially as a single lesion, and recurred twice as multiple agminated lesions that maintained the same histological pattern as the original SN. Nevertheless, the clinical behavior led to a diagnosis of metastasis from malignant melanoma at another medical institution. This case emphasizes the need for relying on accurate histopathological criteria to distinguish SN from malignant melanoma if inappropriate and detrimental therapeutic procedures are to be avoided.

Adolescent↗

[Multicenter study of antirabies antibodies in vaccinated subjects: comparison of serologic methods].

Polycentric research is performed in three laboratories to value the immunological response in vaccinated persons against rabies. The serological methods were: the immunoenzymatic test with virus of HDCV vaccine (EIA-V) and viral glycoprotein purified (EIA-P), the neutralizing in vitro test (RFFIT) and the immunofluorescent indirect test (IFI). The sera of 119 subjects were examined by three laboratories, every performed a different test. It is observed a concordance of 98.3% between RFFIT and EIA-V, of 86.8% between RFFIT and EIA-P, of 80.5% between RFFIT and IFI. The RFFIT is the method more sensible and specific for rabies antibody, but more expensive and difficult. The IFI showed late nucleocapsid antibodies and more false positive and negative cases. The EIA-V and EIA-P are efficient, sensible, specific, and not expensive routine methods to point out protective titres of antibodies, above 0.5 UI/ml after 15 day the inoculation of vaccine HDCV.

Antibodies, Viral↗

[Seroepidemiologic case finding in HTLV III infection, lues and HBV in a prison].

We report serological screening of 1217 prisoners for HTLV III antibodies, HBV markers and lues tests. The prevalence for HTLV III Abs on the whole of prisoners controlled is 30.8%, among the drug-users is 60.7%, with a relative risk (RR) of 1.18 between males and females in this group. It is been observed a significant association between aspecific positivity to VDRL and HTLV III Abs in the serum.

Acquired Immunodeficiency Syndrome↗

Immunological alterations in a case of Papillon-Lefèvre syndrome with recurrent cutaneous infections.

An immunological study was performed in a 16-year-old boy affected with Papillon-Lefèvre syndrome (PLS) and recurrent staphylococcal cutaneous infections. A defect of neutrophil intracellular killing of Staphylococcus aureus and a decreased lymphocyte proliferative response to phytohaemagglutinin were detected. The possible role of these alterations in promoting recurrent infections in PLS is discussed.

Adolescent↗

Eosinophilic ulcers of the tongue.

A case of eosinophilic ulcer of the tongue is presented. Although the entity is rarely described, the distinctive histopathologic pattern featuring the remarkable presence of eosinophils in the superficial corium and in between muscle bundles, together with the benign clinical course, make a diagnosis possible.

Adolescent↗

IgG rheumatoid factors behaviour in young normal subjects following vaccination.

In order to contribute to explain the finding of Rheumatoid Factors of the IgG class in all normal subjects, even at low levels, a study on their behaviour in a group of young subjects serving in the army, at the time of anti-typhoid and antitetanic vaccination, and in the following two months, was conducted. Parallely some aspecific serological parameters of autoimmunity were determined. The results demonstrate, first of all, a good antibody response to the vaccine in all subjects observed. Immunoglobulins of the IgG, IgA, and IgM class were normal in all samples. Complement factors C3 and C4 were slightly decreased after the second dose of vaccine, suggesting a modest consumption probably due to immune complexes formation. Factor C3A showed a slight increase, may be to be considered as its property of an acute phase reactant. Autoantibodies determined by immunofluorescence were constantly negative. IgM rheumatoid factors became transitory positive in a significant proportion. IgG rheumatoid factors demonstrated a two-phase increase, more evident after the second dose of vaccine. We can conclude, mainly for the latest parameter, that these results reveal an autoimmune serological response, even quantitatively modest, concomitant to the specific sensitization resulting from vaccination.

Adult↗

Effect of solid detergent washing on values of skin electrical impedance.

We have studied the electrical behaviour of the skin on 20 volunteers, before and after cleaning with solid detergent. The aim was to study one of the possible variables of the measurements. The results have shown that the cleaning has globally reduced the electrical skin parameters of the forehead, without influencing other parts examined (dorsal and palmar surfaces of the hand). The result has been attributed to the elimination of the hydrolipidic film of the surface and in particular that of the sebum of the forehead. The data give an idea as to how to obtain more homogeneous final results, as well as studying the sebum production function.

Adolescent↗

High prevalence of Werner's syndrome in Sardinia. Description of six patients and estimate of the gene frequency.

Several patients with Werner's syndrome in a large family group in Sardinia were ascertained three years ago and reported briefly by Rabbiosi and Borroni (1979). Since then two sisters from a second family and a single case from a third family were ascertained. The three families originated from the Northern part Sardinia and no connection between them was found. We provide a detailed clinical description of six of these patients and attempt to estimate the prevalence and the gene frequency of Werner's syndrome in Sardinia. The prevalence was calculated as 1:94,914 for the two districts of Sassari and Nuoro and as 1:202,766 for the whole island. This is the highest prevalence thus far ascertained. Using Dahlberg's formula we obtained an estimate of the gene frequency q = 0.003288 and thus a frequency of Werner's syndrome of 1:92,515. A more rigorous estimate gave a gene frequency q = 0.001483 and thus a frequency of Werner's syndrome of 1:454,505, but because of the small sample size this estimate should be taken with caution.

Adult↗

[Initial evaluations on the use of passive microhemagglutination test for the verification of antitetanus immunity].

First results obtained in the L.P.I.P. of Milan for tetanus antitoxin titration in the serum of 200 subjects vaccinated, are exposed in this work. A micromethod of passive haemoagglutination against avian erythrocytes was employed. The 26.5% of these subjects presents less than 0.1 Ul/ml. of antitoxin in spite of previous immunization. On the contrary in 33% of cases, high levels of antibodies have been determinated in spite of a not correctly executed vaccination. It seems confirmed the validity of this diagnostic procedure for monitoring the prophylaxis against tetanus among the National Sanitary Service and for its more correct management. The study of the results permits in addition to better determine the cases in which this test is suitable.

Adolescent↗

Palmoplantar keratoderma and Charcot-Marie-Tooth disease.

A close association was noted between palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) in nine members of a family in five generations. Clinical, genealogic, electroneurophysiologic, chromosome, urinary amino acid, and histopathologic studies were performed to define the two entities. Charco-Marie-Tooth disease occurred with advancing age in all of the members with PPK, but in none without PPK. Palmoplantar keratoderma and CMT appear to be genetically associated and transmitted as an autosomal dominant trait. This is the first report, to our knowledge, of an association between PPK and CMT.

Adult↗

Werner's syndrome: seven cases in one family.

7 cases of Werner's syndrome in one family of northern Sardinia (the female : male ratio being 4:3) are reported. A 9-year-old girl affected with Cooley's anemia is reported too. The typical complete pattern of the syndrome was observed in patients in the fourth decade of their lives, whereas in the two youngest ones, some features were missing. 1 patient died of gastric carcinoma, 1 of cachexia. Consanguinity was established in two generations. The genealogical tree suggests an autosomal recessive mode of inheritance. Genealogical, clinical, biochemical, and histopathological studies were performed. As far as we know, this is the largest number of patients with Werner's syndrome reported in one family.

Adult↗

Effect of synthetic LH-RH and hCG administration on plasma testosterone, androstenedione, and estradiol 17beta levels in normal men and in patients with idiopathic oligospermia.

Plasma testosterone, androstenedione, and estradiol 17beta levels were measured in 20 normal men and in 20 patients with idiopathic oligospermia before and after iv hCG (5,000 IU) and synthetic LH-RH (50 microgram) administration. No statistically significant differences in the concentrations of the steroids examined were detected between patients and controls either under control conditions or under exogenous and endogenous gonadotropin stimulation.

Adult↗