Search PubMed⌕ Search

Biomedical subjects

A Balestrieri

Publications and source records attributed to A Balestrieri.

At least 37 records · Page 2Linked to original sources
PubMed1996

A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations.

A frequent missense mutation (Thr-6Pro) found in the prepeptide of the lysosomal acid lipase (LAL) gene was analyzed in a cohort of 1003 randomly selected samples from Germany, Japan and Sardinia (Italy). Using the mutagenically separated polymerase chain reaction (MS-PCR), allele frequencies of 0.269, 0.238 and 0.245 were determined in the three populations, respectively. Statistical analysis showed a lack of association with a dyslipidemic phenotype in all three groups. Additionally, in a subgroup of 126 German individuals no association was observed between genotype and LAL activity. We conclude that this mutation appears to be a frequent LAL gene polymorphism causing no impaired function of the enzyme and no measurable dyslipidemia in the general population.

Base Sequence↗
PubMed1995

Adult celiac disease is frequently associated with sacroiliitis.

No data are available on the presence and frequency of peripheral or central joint disease, routinely determined by bone scintigraphy with 740 MBq of [99mTc]MDP, in adult celiac disease. Bone scintigraphy was carried out to detect early acute inflammatory lesions in 22 adult celiac patients (15 females and seven males; mean age 36.72 years, range 17-63). Bone scintigraphy was positive for sacroiliitis in 14 cases (63.6%). Except in the case of one patient suffering from rheumatoid arthritis, laboratory data were normal. Our data suggest that as in other chronic intestinal diseases, celiac disease in adults, is frequently associated with central joint disease. This high incidence of sacroiliitis, the joint disease most frequently found in our patients, has not been previously reported in other series. We believe, therefore, this difference could be explained by the different methodology used for the screening of joint disease.

Adult↗
PubMed1995

Oesophageal motility in adult coeliac disease.

Coeliac sprue is a relatively frequent disease with protean clinical manifestations. Recent studies suggest that gastrointestinal motor abnormalities may explain some symptoms complained of by such patients. We investigated whether coeliac patients have oesophageal motor abnormalities from both a clinical and a physiological point of view. Thirty-six consecutive adult sprue subjects (14 during the florid phase and 22 on gluten-free diet) were studied. A clinical questionnaire on gastrointestinal symptoms (with emphasis on those of oesophageal origin) was administered. Moreover, 18 patients (13 on free and five on gluten-free diet) gave their consent for oesophageal manometry and eight subjects for pH-metry also. Oesophageal clinical symptoms were compared with those of 144 age- and sex-matched controls from a general population sample, and manometry with that of 34 healthy volunteers. Of coeliac patients 50% complained of dysphagia (P < 0.001 vs. controls) and 14% noncardiac chest pain (P = NS vs. controls). Manometric examination showed motor abnormalities in 67% of the subjects examined, consisting of nutcracker oesophagus, hypotonic lower oesophageal sphincter associated with simultaneous contractions, and frequent repetitive (> 3 peaks) contractions. These abnormalities were equally distributed among free and gluten-free diet patients. pH-metry showed only one pathological reflux out of eight subjects studied. We conclude that patients with coeliac sprue may display abnormal oesophageal motility. This confirms previous studies suggesting that gastrointestinal motor abnormalities should probably be added to the clinical spectrum of the disease.

Adult↗
PubMed1995

Distribution of HLA-DPB1, -DQB1 -DQA1 alleles among Sardinian celiac patients.

The Sardinian population in many aspects differs from other Caucasoid populations, particularly for its degree of homogeneity. For this reason we have studied 50 adult Sardinian patients with celiac disease (CD) and 50 control healthy Sardinian individuals by RFLP analysis and by extensive oligotyping for 17 HLA-DPB1, 8-DQB1 and 9-DQA1 alleles, and established their -DPB1 alleles and -DQB1 -DQA1 genotypes. The heterodimer HLA-DQB1*0201/-DQA1*0501, present in 96% of our patients, is strongly associated with CD susceptibility, confirming published reports. On the other hand we found in 11 of 50 probands (22%) the presence of the allele -DQB1*0502/DQA1*0102. This genotype is extremely rare in other Caucasian populations and appears to confer limited protection in CD Sardinian patients.

Adult↗
PubMed1994

Hepatitis C virus in multiple episodes of acute hepatitis in polytransfused thalassaemic children.

We investigated the course of distinct episodes of acute non-A, non-B (NANB) hepatitis in three polytransfused thalassaemic children. In each case, the first episode was associated with the appearance of serum hepatitis C virus (HCV) RNA and anti-HCV seroconversion. The second episode was accompanied by the reappearance of HCV viraemia, which in two patients was due to reinfection with a different HCV strain and in the third could be the result of either reactivation of primary infection or reinfection with a new but closely related strain. Thus HCV infection may not induce protective immunity, which has implications for vaccine development.

Acute Disease↗
PubMed1994

The role of pre-core hepatitis B virus mutants on the long-term outcome of chronic hepatitis B virus hepatitis. A longitudinal study.

To define the relationship between pre-core hepatitis B virus mutants and the long-term outcome of chronic hepatitis B virus infection, we monitored the type of circulating pre-core hepatitis B virus-DNA by polymerase chain reaction and sequencing in 41 selected chronic HBsAg carriers with extensive follow up. They included 12 HBeAg-positive patients with chronic hepatitis, who seroconverted to anti-HBe during follow up and 29 anti-HBe positive patients, 23 of whom had chronic hepatitis and six acute severe exacerbation occurring spontaneously (three cases) or during antitumor chemotherapy (three cases). In the presence of HBeAg, all showed prevalence of the pre-core wild type along with high levels of viral replication and elevated alanine aminotransferase. Anti-HBe seroconversion was accompanied by a dramatic reduction of hepatitis B virus replication and normalization of alanine aminotransferase in all, except one, and by the emergence of mutated strains with a pre-core stop codon (point mutation G to A at nt 1896) that replaced the wild type in seven of the 12. Of the seven who harboured the pre-core mutant, three continued to show normal alanine aminotransferase during subsequent follow up, three had mild alanine aminotransferase elevation and one had an acute short-lived reactivation after 4.4 years of normal alanine aminotransferase. The five cases who continued to show prevalence of wild type in spite of anti-HBe seroconversion all revealed persistently normal alanine aminotransferase.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1994

Abnormalities of blood coagulation and fibrinolysis in psoriasis.

Contrasting data have been reported about cardiovascular diseases in psoriatic patients. The aim of this study was therefore to evaluate blood coagulation and fibrinolysis in psoriatic patients. For this purpose, in a first group of 48 patients, we measured blood coagulation and fibrinolysis inhibitors [antithrombin III (AT), protein C (PC) and alpha 2-antiplasmin (AP)], the products of thrombin and plasmin activity [fibrinopeptide A (FpA) and B beta(15-42) (B beta)], plasminogen (PLG) and fibrinogen (FBG). When all patients were considered we found a significant increase in B beta and FpA levels, while PC, PLG and AP values were significantly decreased when compared to controls. FBG and AT were not different from the controls. In order to understand whether the observed abnormalities of blood coagulation and fibrinolysis were related only to psoriasis we divided all the patients into two groups: (1) patients with cardiovascular disease or other risk factors (n = 28) and (2) patients affected only by psoriasis (n = 20). Since no difference was observed between groups 1 and 2, we conclude that these findings are related to psoriasis. Subsequently we considered a different group of psoriatic patients. In these patients we measured FpA and two new thrombin activation indicators, such as prothrombin fragment 1 + 2 and thrombin-antithrombin complex (TAT). In addition we evaluated the levels of D-dimer, the product of the dissolution of cross-linking fibrin by plasmin. In this second group FpA, prothrombin fragment 1 + 2 and D-dimer were significantly higher than controls. Only TAT was not statistically different from those of the controls.(ABSTRACT TRUNCATED AT 250 WORDS)

Antithrombin III↗
PubMed1994

Thyroid volume measurement by ultrasound in children as a tool for the assessment of mild iodine deficiency.

Thyroid ultrasound was used to measure thyroid volume in children and compared with thyroid palpation for the assessment of the prevalence of goiter in an area of mild iodine deficiency. School children, 6-14 yr old, were from control areas (n = 2693; urinary iodine excretion, 110 micrograms/L) or from an area of mild iodine deficiency (IDA; n = 278; urinary iodine excretion, 72 micrograms/L). Thyroid volume determined by ultrasound in control children increased with age (r = 0.62; P < 0.0001) and was significantly correlated with height (r = 0.51; P < 0.0001) and body weight (r = 0.126; P < 0.0001). Both median and mean thyroid volumes were greater in IDA children than in controls. The prevalence of goiter determined by ultrasound was 68 of 268 children (25.3%) in IDA and 105 of 2693 children (3.9%) in the control area (chi 2 = 204; P < 0.0001). Thyroid enlargement, as assessed by palpation, was found in 59 of 268 children (22%) in the IDA group and in 165 of 2693 (6.1%) subjects in the control area (chi 2 = 88; P < 0.0001). Some subjects of the IDA who were judged goitrous by palpation (11.2%) had a normal thyroid volume at ultrasound, and 12.7% of subjects with an abnormal thyroid volume at ultrasound were judged nongoitrous by palpation. In conclusion, 1) thyroid volume in children, as assessed by ultrasound, increases with age and is closely related to the parameters of body growth; 2) in every age group, thyroid ultrasound shows greater thyroid volume in an IDA group than in controls; and 3) a discrepancy between palpation and ultrasound is found in 23.9% of children living in an IDA, confirming that palpation is relatively inaccurate for assessing the prevalence of goiter in mild iodine deficiency. These data indicate that thyroid volume measurement by ultrasound in children provides a useful tool for the assessment of goiter in mild iodine deficiency.

Adolescent↗
PubMed1994

[Low levels of dehydroepiandrosterone sulfate in adult males with insulin-dependent diabetes mellitus].

UNLABELLED: Studies on animals and humans have suggested that dehydroepiandrosterone sulphate (DHEAS) has antiatherogenic effects. It has been hypothesized that insulin may have an atherogenic role and it has been reported recently that, surprisingly, DHEAS levels decreased in normal men and women during the hyperinsulinemic-euglycemic technique. Since a hyperinsulinemia frequently occurs during insulin therapy in patients with insulin dependent diabetes mellitus (IDDM), the present work was undertaken to determine whether DHEAS serum concentrations were decreased in IDDM patients as compared to controls and if so, to discover the possible causes. To this, purpose, out of 805 outpatients afferent to our Diabetes Centre from 1989 to 1992, three groups were selected on the basis of the criteria described below. Known interferences with the DHEAS serum concentrations such as gender (all males), age (aged 20-40 years) and Body Mass Index (BMI < 30) were excluded. Group A (cross-sectional study) was made up of 15 IDDM patients on insulin treatment with good metabolic control (HbA1C < 8%); group B (control study) was made of 18 healthy subjects (these patients were selected also on the basis of their normal oral glucose tolerance test) and group C (longitudinal study) was made up of 7 IDDM patients who had been examined previously and who were on insulin treatment. METHODS: In all three groups serum concentrations of DHEAS, 17 OH progesterone (17 OHP), delta 4 androstenedione (A4) and cortisol (F) were measured. In 10 patients from group A and in 9 patients from group B the ACTH test (9.25 mg IM Synacthen) was administered and the same hormonal pattern was measured after 60 min. In group C the same hormonal evaluation was performed 5 +/- 2.8 months after commencement of insulin therapy. RESULTS: DHEAS serum concentrations were significantly decreased in group A (median 2.9; range 1.1-5.2 mumol/l) with respect to group B (median 5.7; range 3.0-9.5 mumol/l) (p < 0.0012). However, the serum concentrations of 17 OHP (median 3.9 nm/l; range 2.9-6.9 nm/l and A4 (median 5.2 nm/l; range 1.8-10.2 nm/l) were also significantly reduced, while cortisol levels and the 17 OHP/A4 ratio were comparable to group B. After administration of ACTH, the delta increment in cortisol percentage showed a frank increase (55.1%) in group A with respect to group B (33.1%) (p < 0.01). The rise in DHEAS showed a lower increase in group A (10.2%) with respect to group B (65.5%) even though not statistically significant, while the other hormones showed an overlap between the two groups. In group C the serum concentrations of hormones before insulin therapy did not show any statistical differences with respect to the values in group B. A second evaluation, which was performed during insulin therapy, showed that only the 17 OHP/A4 ratio tended towards higher values with respect to pretherapy values (1.1 and 0.6 respectively; p = 0.07). In conclusion our data confirm low DHEAS levels during chronic insulin administration therapy. The underlying mechanism could be a general aspecific reduction in the activity of P 450 C 21 SCC enzymes in contrast with the specific inhibition of 17.20-lyase obtained during insulin bolus. Whether the low serum concentrations of DHEAS can determine an atherogenic effect of insulin needs further investigation, but the hormone could constitute a new parameter for the follow-up of patients affected by diabetes mellitus.

Adrenocorticotropic Hormone↗
PubMed1993

Markers of hepatitis C virus infection in Sardinian blood donors: relationship with alanine aminotransferase levels.

Serum samples from 1,765 consecutive Sardinian blood donors, negative for hepatitis B surface antigen (HBsAg) and for antibodies to human immunodeficiency virus (HIV) (anti-HIV), were evaluated for the presence of antibodies to hepatitis C virus (anti-HCV) by second-generation ELISA. Anti-HCV was detected in 25 (1.45%) of the 1,765 donors examined. Anti-HCV was found in 15 of the 1,690 (0.9%) donors with normal alanine aminotransferase (ALT) and in 10 of the 75 (13%) donors with elevated ALT (P < 0.0001). Of the 15 anti-HCV-positive donors with normal ALT, only five (33%) were confirmed to be positive by second-generation RIBA, six (40%) were indeterminate, while four (27%) were RIBA negative. HCV RNA, as detected by polymerase chain reaction (PCR) using a set of primers from the 5'-noncoding region, was found in six of the 15 (40%) donors with normal ALT, including five RIBA positive and one indeterminant. Of the 10 anti-HCV-positive donors with elevated ALT, all were RIBA positive and eight (80%) had detectable HCV RNA. Thus, among ELISA-reactive donors, those with elevated ALT had a significantly higher probability of being positive for second-generation RIBA and HCV RNA compared to those with normal ALT levels (P = 0.028). None of the 65 donors with elevated ALT but negative for anti-HCV by ELISA had detectable serum HCV RNA, as compared to eight of 10 anti-HCV ELISA-positive donors (P < 0.0001). However, although negative for HBsAg, 12 of the 65 (18%) had serum HBV DNA by PCR.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1993

[p55 and p75 subunits of the IL 2 receptor, membrane bound and soluble, in peripheral lymphocytes in patients with solid tumors].

The aim of the investigation was to directly study the IL 2 receptor (IL 2 R) and its subunits, p55 and p75 chains, either membrane-bound or soluble, on peripheral blood mononuclear cells (PBMC) of patients with solid malignancies and, indirectly, the same patients' PBMC ability to produce IL 2. Fifty-eight cancer patients, 29 men and 29 women, were studied: their mean age was 57.3 years, range 35-79. Twenty-two healthy age-sex-matched subjects served as controls. The tumors were the most common and the most representative among human cancers, i.e. breast, lung, head and neck, digestive tract and liver, prostate and gynecologic cancers: they were generally in advanced stages and in 23 cases metastatic. The PBMC proliferative response to PHA, PHA plus IL 2 and IL 2 was evaluated along with the response to PHA in presence of anti-p55, anti-p75 monoclonal antibodies, or both. Moreover, membrane-bound IL 2 R, p55 and p75 chains, on PHA-stimulated PBMC were detected, along with soluble IL 2 R in the serum and in the culture supernatants. The conclusions suggest that in solid malignancies: the membrane-bound IL 2 R s, both p55 and p75 chains, are expressed normally, there is an high serum level of soluble IL 2 R, there is a normal release of soluble IL 2 R in culture, and there is an indirect evidence of a lack of IL 2 production. Therefore, no primary impairment of IL 2 R was found in solid tumors.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

[The duodenoscopic picture in adult celiac disease].

The duodenal endoscopic pictures were studied in 12 adult coeliacs patients, aged between 18 and 76 years, mean age 41.9 +/- 17.6 yrs. All patients carried out D-xylose absorption test, antigliadin IgA antibodies and distal duodenum biopsy. The more frequent endoscopic picture was the disappearance of Kerckring's folds; nevertheless in 5 patients the loss of Kerckring's folds was associated with duodenal mucosa irregularity. We believe that in future the knowledge of this new endoscopic picture will be useful in coeliac's disease diagnosis.

Adolescent↗