Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma.

To assess the role of genetic variation in determining factor VII (FVII) activity and antigen levels we studied a polymorphism located in the 5' region of the gene (5'F7), an intronic mutation (IVS7), and the 353Arg-Gln polymorphism. All the polymorphisms, which showed strong allelic association, analyzed separately or in combination by the one-way analysis of variance, were associated with significantly different FVII levels. The 5'F7 and 353Arg-Gln polymorphic systems, which have very similar allele frequencies, contributed to a similar extent to the total phenotypic variance, whereas the contribution of the IVS7 polymorphism was lower. Genetic variation at the FVII locus, evaluated on combined genotypes, accounted for up to 40% of the phenotype FVII variance. As also shown by the two-way analysis of variance, the use of two out of three markers is advisable, and since the 5'F7 polymorphism can be screened by a simple immunoassay, it should be preferred for population-based studies. No substantial differences between FVII activity and FVII antigen levels were found, thus suggesting that the variation was due to biosynthesis- or stability-mediated mechanisms. The genetic control of FVII levels described in this study plays an important role in determining plasma FVII level variability, which may influence the hemostatic balance.

Interaction between alcohol consumption and positivity for antibodies to hepatitis C virus on the risk of liver cirrhosis: a case-control study. Provincial Group for the Study of Chronic Liver Disease.

To assess the risk of developing liver cirrhosis associated with alcohol consumption, HBV and HCV infection markers, we carried out a case-control study involving 115 patients admitted to the medical departments of the general hospitals in the province of L'Aquila (Abruzzo, Italy) who received for the first time the diagnosis of liver cirrhosis, and 167 controls randomly selected among patients admitted to the same hospitals as the cases. Alcohol intake was measured in all 282 subjects using an already validated standardized questionnaire, and expressed as mean lifetime daily alcohol intake in grams. The mean lifetime daily alcohol intake showed a dose-dependent effect on the risk of cirrhosis: the relative risk significantly rose to 3.8 (95% CI: 2.0-7.3) for a mean daily intake of > or = 101 g alcohol; for HBsAg positivity the relative risk of cirrhosis was 23.0 (95% CI: 4.9-107.8) and for anti-HCV positivity it was 8.7 (95% CI: 4.3-17.6). After applying a multiple logistic regression analysis in a multivariate model including mean lifetime alcohol intake and anti-HCV status, both variables were significantly associated with the risk of cirrhosis (relative risks = 5.3-95% CI: 2.3-12.2 and 9.9-95% CI: 4.4-22.0, respectively). The combination of these two variables was found to fit an additive--but not multiplicative--model relative to the risk of cirrhosis: furthermore, the interaction of the anti-HCV status with the presence or absence of cirrhosis did not result in a significant source of variability for the mean lifetime daily alcohol intake.(ABSTRACT TRUNCATED AT 250 WORDS)

The molecular defect of albumin Castel di Sangro: 536 Lys----Glu.

Albumin Castel di Sangro is a rare fast-moving variant of human serum albumin which has been discovered in heterozygous form in the serum of an 85-year-old woman living in Castel di Sangro (Abruzzo, Italy). Isoelectric focusing analysis of CNBr fragments from the purified variant allowed us to localize the mutation in fragment CNBr VI (residues 447-548). This fragment was isolated on a preparative scale and subjected to tryptic digestion. Sequential analysis of the abnormal tryptic peptide, purified by reverse-phase and cation-exchange HPLC, revealed that the variant arises from the substitution of lysine 536 by glutamic acid. This amino acid replacement, probably due to a single-base substitution in the structural gene, causes a change in the net charge of -2 units, which is in keeping with both the increased electrophoretic mobility of the native protein and the isoelectric point of the modified CNBr fragment.

[Comparison of different methods for the identification of groups of streptococci]. / Confronto di più metodi per l'identificazione di gruppo degli streptococchi.

The Streptococci, isolated from 500 mucus-pharyngeal tampons, have been tested, for a group identification, by means of four different techniques in order to value the specificity and reliability in comparison with more traditional and, sometimes, more complex tests; such as Maxted and Lancefield. The most suitable method for routine researchers of microbiology laboratories is the one based on the extraction, by means of enzyme obtained from Streptomyces Griseus, of streptococci antigens before starting their serum identification, possible for A-B-C-D-F-G groups (Streptex). On the contrary, the method based on the links of group-specific antibodies with the A protein of the surface of Staphylococci Cowan I, has resulted more defective because Streptococci D and F cannot be grouped, and less specific because of frequent co-agglutinations.

[Interference of hemolysis in plasma urea determination. A comparison of 2 methods: classical Berthelot urease and the modified Berthelot urease]. / Interferenza dell'emolisi sulla determinazione dell'urea plasmatica. Confronto tra due metodiche: ureasi-Berthelot classica ed ureasi-Berthelot modificata.

The authors have tested the interference of the hemoglobin by two routine methods ( Berthelot classic and Berthelot modified) for the determination of plasmatic urea. From their work it appears that Berthelot classic method already presents a very sensible positive interference for hemoglobin at 0.04 g/dl level while for the Berthelot modified method such interference begins to be significant only for those values which are than 1.25 g/dl level. The correlation between these two methods, tested by limpid and lacking in hemolysis plasmas, is very good, so the authors think the Berthelot modified method is more respondent to the exigence of the routine as it is not exceptional the case to have to execute anyhow some determinations of urea and plasmas which have a partial hemolysis.

[Anti-tetanus immunity in Aquila residents]. / Studio dell'immunità antitetanica nella popolazione Aquilana.

The AA have studied immunologic conditions against tetanus in the people of L'Aquila, through the dosage of the antibodies against the tetanic toxin. Some aged classes are resulted to be less protected, specially grown-up people, because they aren't vaccinated. The female grown-up people and the old women are less protected than the male people.

[Determination of the diagnostic value of erythrocyte discrimination indices (Mentzer and Srivastava) and of glycerol lysis time (GLT 50) in microcytosis]. / Contributo alla precisazione del valore diagnostico di alcuni indici discriminanti eritrocitari (Mentzer e Srivastava) e del tempo di lisi al glicerolo (GLT50) nelle microcitosi.

Many authors proposed erythrocytes discriminating functions to differentiate most common microcythemic hypochromic anemias (beta-thalassemia and iron deficiency). This study considers two of these discriminating functions: 1. Mentzer's index; 2. Srivastava's index; and also test GLT50 proposed by Authors with the same aim. The purpose is to quantify the percent of false positive and false negative results of such tests. As standard the test of measurement HbA2 and HbF was used to classify thalassemic patients. The results prove that the Mentzer test is the best while, not highly specific (20% false positive), but we did not find any false negatives in our study. Srivastava's method for the presence of false negatives (7% of thalassemic patients) is less reliable, and even less so the GLT50 test (30% of thalassemic patients).

[Meningococcus carriers in the population of L'Aquila: distribution according to blood group, drug resistance and prophylaxis]. / Portatori di meningococco nella popolazione Aquilana:distribuzione in sierogruppi, chemio-resistenza, profilassi.

During 1979 21 stocks of N.meningitidis were isolated from 1024 subjects living in the district of L'Aquila. These 21 stocks belong to the following groups of sera: 13 stocks belong to group B,6 to group Y and 2 to group Z. 85,71% of the stocks showed resistance to Sulfodiazine, 80,95% to Rifampicine, 9,52% to Tetracycline and to Minocycline.

[Discovery of a monoclonal gammopathy in 2 brothers and its classification by electroimmunodiffusion]. / Riscontro in due fratelli di una gammopatia monoclonale e sua tipizzazione mediante la tecnica dell'elettroimmunodiffusione.

In this work the finding of a monoclonal band in two brothers is communicated. The electroimmunoprecipitation has been used for the typification. This technique seemed to be simple, rapid and of immediate interpretation.