This study assesses the impact of immigration in Friuli Venezia Giulia, a region of northeastern Italy, on the epidemiological features of hemoglobin patterns and on prothrombotic and trisomy risk in ...pregnancy for patients of non-Italian origin. This study follows a series of studies on the incidence of thalassemia and other hemoglobinopathies with reduced globin chain synthesis, that were performed during the postwar (1939-45) period in Friuli Venezia Giulia following immigration into the region from Istria and Sardinia (regions of northern and central Italy). Current data show that today's constantly growing immigration into the region differs from previous decades, in terms of origin and quantity of migrants, who mainly come from third world countries. This has a significant impact on health care issues, and more specifically on prospective health screening for foreigners. The authors conclude that scholastic education and hospital services, either public or private, and voluntary associations, may contribute to solving the problem, but only in terms of training and organization, for non-European Union citizens arriving in northern Italy and neighboring areas, especially those from Africa, Asia, Latin America, and eastern Europe.
The aim of this study was to provide a tool based on CDT measurements for a diagnostic approach to identify patients affected by congenital disorders of glycosylation (CDG) in a selected population.
...Serum carbohydrate-deficient transferrin (CDT) of pediatric and adult patients (a total of 168 individuals) with neurological symptoms was analyzed. Abnormal results were confirmed by HPLC analysis and by enzymatic and molecular studies.
We found 6 patients (3.8%) with abnormal serum CDT; only two of them (1.9%) showed increased amounts of disialo and asialo with HPLC analysis and were classified as CDG-Ia, the most frequent form of CDG, due to a deficiency of the phosphomannomutase enzyme.
The CDT quantitative immunoturbidimetric procedure is a useful tool for CDG screening. HPLC analysis, however, permitted the correct identification of asialo and disialo transferrin concentrations.
Aim: Antiphospholipid (aPL) antibodies, Lipoprotein(a) Lp(a) and obesity are considered three independent risk factors for development of cardiovascular diseases. We investigate the presence of aPL ...antibodies and the Lp(a) concentration in 190 obese and 30 healthy children divided into prepubertal and pubertal, compared with healthy adults.
Results: aPL antibodies were detected in 2.65% of prepubertal and in 2.59% of pubertal obese children. Considering results obtained by Lp(a) test, 4.4% of prepubertal and 5.2% of pubertal obese children and 17.5% of healthy adults were at risk for development of cardiovascular diseases.
Conclusion: The presence of various prothrombotic risk factors increases the probability of developing thrombosis. Considering aPL antibodies there is no statistically significant difference among the different considered groups; therefore each category has the same risk factor. The Lp(a) distribution in adults is significantly different from the Lp(a) distribution in prepubertal (p = 0.012) and pubertal (p = 0.029) obese children. There is no significant difference among prepubertal subjects (p = 0.632) as well as pubertal subjects (p = 0.465), independently from the BMI. These results suggest the control of BMI in young population to avoid the presence of the obesity as another independent prothrombotic risk factor to be added to aPL and Lp(a) in the future adulthood.
A symptom-based diagnosis of infectious mononucleosis is not sufficiently accurate, since some clinical symptoms of infectious mononucleosis are also detected in other virally induced diseases. ...Moreover, not all patients suffering from infectious mononucleosis show circulating atypical lymphocytes, which are considered characteristic of this disease. Therefore, when this disorder is suspected, serum analyses are carried out to detect the presence of certain immunoglobulins associated with infectious mononucleosis in the patient's blood. The aim of this study was to evaluate the sensitivity and the specificity of a rapid test detecting heterophil antibodies in diagnosing infectious mononucleosis in a paediatric population.
We considered 163 paediatric patients with suspected infectious mononucleosis and we tested their serums to detect heterophil antibodies (using an inexpensive and rapid test) and specific immunoglobulins directed against Epstein-Barr virus (EBV) (these assays are known to be characterized by high sensitivity and specificity, but are more expensive and time-consuming).
By comparing the results of the rapid test with those of the other assays, we found that the sensitivity of the first test was 61.8%, whereas its specificity was sufficiently high (about 90%).
We show that, in paediatric patients, the detection of heterophil antibodies is not a very sensitive test, therefore the determination of immunoglobulins against specific antigens of EBV is recommended.
To evaluate serum levels of prolyl-hydroxylase and helical domain of Type IV collagen, markers of hepatic fibrogenesis, in patients with HCV-positive chronic liver disease and the effects of ...interferon therapy on these markers.
Prolyl-hydroxylase and Type IV collagen were determined before therapy and each month during the treatment and follow-up.
Fifty-seven HCV-positive patients were studied. All the subjects received alpha2a recombinant interferon, 6 MU subcutaneously three times a week for 4 weeks, followed by 3 MU thrice weekly for 5 months. After cessation of treatment, each patient was followed for 12 months. Prolyl-hydroxylase and helical domain of Type IV collagen were measured by using immunoenzymatic methods. HCV-RNA and HCV genotype were determined according to the method of Okamoto.
In the patients prolyl-hydroxylase (39.8+/-8.9 ng/ml) was not different from controls (39.1+/-5.9 ng/ml). On the contrary, the patients showed a mean Type IV collagen (133.6+/-93.3 ng/ml) significantly (P < 0.01) higher than controls (100.2+/-10.5 ng/ml). A good relationship between the degree of liver fibrosis and the Type IV collagen serum level was found (r = 0.68; P < 0.005). In both responders and non-responders the Type IV collagen levels decreased during interferon therapy. During the follow-up, in responders the Type IV collagen did not show modifications, while in non-responders/relapsers it returned rapidly to the pretreatment levels (139.1+/-100.7 ng/ml).
In HCV-positive chronic liver disease, prolylhydroxylase is not a good marker of hepatic fibrosis, while Type IV collagen is a useful tool for evaluating fibrogenic activity. Interferon seems to be able to reduce the liver fibrosis even without the inhibition of viral replication and independently from liver necrosis.
Phototherapy (PT) has been reported to increase bile acid excretion in the bile of adults with liver cirrhosis. We investigated the effect of PT on the levels of serum total bile acids (STBA), ...conjugated cholic acid (CCA), conjugated chenodeoxycholic acid (CCDCA), conjugated lithocholic acid (CLCA), and sulfolithocho‐lylgiycine (SLCG) in 13 neonates with unconjugated nonhemolytic hyperbilirubinemia before and after 12 h of PT. The treatment produced a statistically significant (p < 0.02) reduction in both STB A and CCA levels, whereas no effect on the other fractions was observed. The percentage of reduction was the same for STBA and CCA concentrations, indicating that the effect is related to a specific reduction in CCA levels. The magnitude of the expected decrease in the level of serum bilirubin is not correlated with that in bile acids in individual cases. The data are interpreted as suggesting that PT can affect the metabolism of bile acids by decreasing STBA and CCA levels in neonates through an increase in their biliary excretion associated with the reduced intestinal absorption of CCA occurring in newborns.
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