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Biomedical subjects

G Zuliani

Publications and source records attributed to G Zuliani.

At least 55 records · Page 3Linked to original sources
PubMed1995

Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree.

A family presenting several cases of severe primary hypercholesterolaemia and/or premature sudden death was studied. This family is characterized by consanguinity, absence of vertical transmission, bimodal distribution of plasma cholesterol values, and reduction of reproductive fitness in affected individuals. The probands have clinical traits of homozygous familial hypercholesterolaemia, including hypercholesterolaemia, xanthomas and early coronary atherosclerosis, while the parents and grandparents are clinically normal. Eight relatives on the mother's side experienced premature sudden death, and in four cases hypercholesterolaemia was diagnosed. Haplotype segregation analysis of the inheritance of the LDL receptor and apo B genes in the probands' family excluded the involvement of these two genes in the pathogenesis of the disease. LDL receptor activity, as well as the ability of LDL to bind to the LDL receptor, and plasma vegetal sterols were within normal limits both in probands and in their relatives. The study of this pedigree suggests that hypercholesterolaemia is not produced by defects in the LDL receptor or LDL particles, and disease inheritance is consistent with an autosomal recessive trait.

Adult↗
PubMed1993

Pregnancy at forty and over: a case-control study.

We compared obstetric prognosis in 327 women > or = 40 years old (148 nulliparas, 279 multiparas) with 20-30-year-old matched controls who delivered at our department between 1988 and 1990. Gestational diabetes and chronic hypertension were the only more frequent antepartum complications in cases than controls (2.4% vs. 0.3% and 3.4% vs. 0.3%, respectively). There were more premature deliveries in cases than controls (19% vs. 8%) but no difference in postdate deliveries. Cesarean section was more frequent in cases than controls in both nulliparas (64% vs. 30%) and multiparas (43% vs. 12%). Incidence of abdominal delivery for acute obstetrical indications was not increased in older gravidas. Significant differences were observed in low birthweight (17% vs. 5%) and 5-min Apgar score < 7 (8% vs. 2%). Most of the abnormal Apgar scores were recorded after cesarean section; values for vaginally-delivered infants were comparable in older and younger women. Perinatal mortality was similar in the two groups.

Adult↗
PubMed1992

First-trimester prenatal diagnosis of Roberts syndrome.

We present a case of prenatal detection of premature centromere separation on chorionic villi sampled at 8 weeks' gestation from a woman at risk of recurrence of Roberts syndrome. The same cytogenetic characteristic was confirmed on amniocytes at 14 weeks when ultrasound examination showed morphological anomalies of the fetus. To our knowledge, this is the first report of early prenatal diagnosis of Roberts syndrome.

Abnormalities, Multiple↗
PubMed1992

Lipids and other risk factors selected by discriminant analysis in symptomatic patients with supra-aortic and peripheral atherosclerosis.

BACKGROUND: Different patterns of risk factors might be related to the involvement of specific vascular districts by atherosclerosis. In this sense, many investigations have addressed coronary artery disease, whereas extracoronary atherosclerosis has received less extensive attention. METHODS AND RESULTS: Vascular risk factors, with particular attention to lipid parameters (total cholesterol [TC]; triglycerides; high density lipoprotein cholesterol [HDL-C], HDL2 and HDL3 cholesterol [HDL2-C, HDL3-C]), were evaluated by means of univariate and multivariate (discriminant) analysis in a group of 169 patients (128 men and 41 women; mean ages, 58 +/- 7 and 62 +/- 7 years, respectively) with clinically and angiographically demonstrated atherosclerosis of the supra-aortic trunk and/or lower limbs. Patients with coronary artery disease were excluded from this study. The control group consisted of 140 age- and sex-matched individuals. By univariate analysis, smoking was more closely associated with peripheral atherosclerosis, whereas blood pressure was higher in patients with supra-aortic disease. Unrecognized diabetes mellitus was a frequent finding in patients with peripheral disease. The percentage of hyperlipidemias was fourfold higher in patients than in control subjects, with differences consisting of higher triglycerides and lower HDL-C, HDL2-C, and HDL3-C concentrations. By discriminant analysis, high correct classification (CC) rates were achieved in the various patient subgroups on the basis of variables selected from the statistical function. In male patients with peripheral disease, the variables HDL-C, smoking, diastolic blood pressure, uric acid, and glucose, in that order, yielded a CC in 90.4% of the cases; in female patients, smoking, TC/HDL-C, and body mass index gave a CC rate of 95.9%. In men with cerebral disease, the selected variables TC/HDL-C, diastolic blood pressure, and TC yielded a CC of 90.7%; in women, uric acid, TC/HDL-C, and fibrinogen levels produced a CC rate of 89.2%. CONCLUSIONS: Risk profiles in atherosclerosis of the supra-aortic trunks and lower limbs seem to differ in relation to gender and circulatory district involved. The importance of lipid parameters, in particular HDL-C, HDL2-C, and TC/HDL-C, as extracoronary risk factors is further confirmed.

Arteriosclerosis↗
PubMed1992

Nonradioactive quantification of low concentrations of hemoglobin A by HPLC for midtrimester prenatal diagnosis of beta-thalassemia.

The usual methods for prenatal diagnosis of beta-thalassemia and other hemoglobinopathies by assay of fetal blood erythrocytes are either complex (analysis of globin chains synthesis by carboxymethylcellulose chromatography) or only semiquantitative [isoelectric focusing of hemoglobin (Hb)]. To further simplify the diagnostic procedure and to obtain quantitative data, we measured the small concentrations of Hb A in fetal erythrocytes by using a high-pressure liquid chromatography (HPLC) instrument (DIAMAT-TM; Bio-Rad) equipped with the new column proposed for measuring Hb A2. We analyzed 212 uncontaminated fetal blood samples obtained by cordocentesis between the 18th and 22nd weeks of pregnancy, using the HPLC procedure, and compared the results with those obtained by the above-named methods. The Hb A values obtained ranged between 0% and 8.5%; they were less than or equal to 1.8% in 44 fetuses affected by homozygous beta-thalassemia and greater than 2.5% in 168 unaffected fetuses. The method was simple, rapid, and reproducible (CV 3.2%) and there was good correlation between Hb A concentrations determined by HPLC and the beta/gamma ratio determined by carboxymethylcellulose chromatography (r = 0.7687; P less than 0.0001). No false-negative or false-positive results were observed, and there was no overlap of values between affected and unaffected fetuses.

Chromatography, High Pressure Liquid↗
PubMed1991

Specialized physical training programs: effects on serum lipoprotein cholesterol, apoproteins A-I and B and lipolytic enzyme activities.

To determine the effects of different types of physical training on lipid metabolism, serum lipids, lipoprotein cholesterol, apoproteins A-I and B, hepatic (HTGL), extrahepatic (LPL) and total (PHLA) post-heparin lipoprotein lipase activities were studied in elite athletes engaged in aerobic ("B", no. 13), anaerobic ("C", no. 17) and mixed ("D", no. 9) training programs and in a group of sedentary controls ("A", no. 15). In the aerobic and mixed groups serum triglycerides were significantly lower compared to sedentary controls while total serum cholesterol and LDL cholesterol, as well as serum apoprotein B levels were only slightly lower. HDL cholesterol and HDL2 cholesterol were slightly higher while serum cholesterol/HDL cholesterol (2.89 +/- 0.37 vs 3.6 +/- 0.47, p less than 0.01) and LDL cholesterol/HDL cholesterol (1.69 +/- 0.38 vs 2.23 +/- 0.43, p less than 0.05) ratios were significantly lower only in aerobic athletes compared to the control group. PHLA and LPL activities were slightly higher in the aerobic group than in controls, while PHLA and HTGL were significantly lower in aerobic and mixed athletes. No significant correlations were found between HDL cholesterol and energy expenditure during training, indexes of adipose mass or lipolytic enzyme activities. The results of this cross-sectional study seem to indicate that specialized training programs have a different effect on lipoprotein pattern and lipolytic enzyme activities, and only aerobic exercise has a potentially antiatherogenic effect.

Adult↗
PubMed1990

Lipoprotein abnormalities in patients with extra-coronary arteriosclerosis.

Serum levels of lipids, lipoproteins and apolipoproteins A-I and B were evaluated in 102 patients (75 males and 27 females; ages 58 +/- 8 and 61 +/- 7 years (mean +/- SD), respectively) with arteriosclerosis of the lower limbs of supra-aortic trunks. Compared to findings in 64 healthy, age-matched control subjects, male patients in both groups had significantly higher serum triglyceride levels (+42%, P less than 0.05), while female patients with lower limb arteriosclerosis showed significantly increased cholesterol and triglyceride concentrations (+19%, P less than 0.01 and +82%, P less than 0.05, respectively). LDL-triglycerides were also increased in all patients. HDL-cholesterol was significantly decreased in male patients with arteriosclerosis of the lower limbs (-27%, P less than 0.01) and the supra-aortic trunks (-28%, P less than 0.01), and in females of both groups (-26%, P less than 0.01 and -20%, P less than 0.01, respectively); in terms of percent, HDL2-cholesterol was reduced 2-fold compared to HDL3-cholesterol. Patient apolipoprotein A-I and B levels were unchanged. In male and female patients, correlations between triglycerides and HDL-cholesterol as well as HDL2-cholesterol were negative, but not significant; on the other hand, both correlations were negative and significant in male controls, while only the correlation between triglycerides and HDL2-cholesterol was negative and significant in the female controls. Since HDL-cholesterol, and in particular HDL2-cholesterol, concentrations seem closely related to the intravascular catabolism of triglyceride-rich lipoproteins, the absence of a significant correlation between these parameters in the patients suggests a possible alteration in this metabolic process.

Apolipoproteins↗
PubMed1990

Lipid and apoprotein modifications in body builders during and after self-administration of anabolic steroids.

To determine the effects of anabolic steroids on serum lipid and apoprotein levels, 14 white male body builders who self-administered steroids for 2 to 3 months (steroid users) were studied; 10 agreed to screening while they were taking the drugs (ON treatment) and also at about 3 months following their suspension (OFF treatment). Controls consisted of 17 body builders who had never taken steroids (nonusers), and a group of 18 healthy sedentary subjects (controls). During the period of steroid administration, there was a slight reduction in total serum cholesterol, with a marked cholesterol decrease in the high-density lipoprotein (HDL) subfractions HDL2 and HDL3, and a significant reduction in the HDL2 cholesterol/HDL3 cholesterol ratio; the percentage of serum cholesterol transported by low-density lipoproteins (LDL) increased significantly. In addition, a marked apoprotein (apo) A-I reduction in the HDL2 and HDL3 subfractions was observed, as well as an apo A-II decrease that was significant only in the HDL3 subfraction, with an A-I/A-II ratio significantly reduced in both subfractions. Serum apo B was only slightly increased, with a very high B/A-I ratio. Apolipoprotein C-II and E levels showed no modifications, while apo C-III reduced significantly. Lipid and apoprotein values returned to almost normal levels in the OFF treatment period. Findings in the group of nonusers were similar to those in sedentary subjects. These results indicate that anabolic steroids profoundly alter the serum lipid-protein profile, and the changes may be caused in part by the significant differences observed in apoprotein levels.

Adult↗
PubMed1990

Hormonal postcoital contraception with an ethinylestradiol-norgestrel combination and two danazol regimens.

The ethinylestradiol-norgestrel combination (EE-NG) for postcoital contraception, as described by Yuzpe, has been shown to be an effective method but with frequent side effects. To overcome the problem of adverse effects a new approach using danazol was proposed, but the efficacy and acceptability of this treatment have not yet been tested in large studies. In a 5-year period at the AIECS Family Planning Centre in Milan we treated 2448 women requesting postcoital contraception using Yuzpe's regimen and two danazol regimens (800 mg/1200 mg). The patients' acceptability for danazol treatment was higher than for Yuzpe's regimen due to fewer, milder and shorter side effects. Nine pregnancies occurred in the EE-NG group (2.21%), 17 in the 800 mg group (1.71%) and 6 in the 1200 mg group (0.82%). Our study shows a statistically significant efficacy against expected pregnancy rates both with Yuzpe's regimen and with danazol. The 1200 mg danazol treatment seems to be more effective and can be considered a valid alternative to the EE-NG combination for hormonal postcoital contraception.

Adolescent↗
PubMed1990

A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences.

We describe a new class of DNA length polymorphism that is due to a variation in the number of tandem repeats associated with Alu sequences (Alu sequence-related polymorphisms). The polymerase chain reaction was used to selectively amplify a (TTA)n repeat identified in the 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase gene from genomic DNA of 41 human subjects, and the size of the amplified products was determined by gel electrophoresis. Seven alleles were found that differed in size by integrals of three nucleotides. The allele frequencies ranged from 1.5% to 52%, and the overall heterozygosity index was 62%. The polymorphic TTA repeat was located adjacent to a repetitive sequence of the Alu family. A homology search of human genomic DNA sequences for the trinucleotide TTA (at least five members in length) revealed tandem repeats in six other genes. Three of the six (TTA)n repeats were located adjacent to Alu sequences, and two of the three (in the genes for beta-tubulin and interleukin-1 alpha) were found to be polymorphic in length. Tandemly repetitive sequences found in association with Alu sequences may be frequent sites of length polymorphism that can be used as genetic markers for gene mapping or linkage analysis.

Base Sequence↗
PubMed1989

Terminal deoxynucleotidyl transferase-positive B cell precursors in fetal lymph nodes and extrahemopoietic tissues.

Terminal deoxynucleotidyl transferase (TdT)-positive B cell precursors populate fetal lymph nodes (LN) of mid-term (16th-22th week) fetuses. These cells have a B cell phenotype (HLA-DR, CD45R, CD22, mu) and lack mature differentiation antigens (CD1c, CD20, L26). TdT+ cells are also present in the extranodal mesenteric mesenchyme, pancreas and LN primordia. Extranodal TdT+ cells are found among proliferating (i.e. Ki-67+) B cells and lack leukocyte function-associated antigen (LFA-1) and HLA-DQ; these latter molecules are acquired by nodal TdT+ elements. Adult LN, adult and fetal spleen contain less TdT+ cells than fetal LN. The fetal LN contains the full range of the B cell differentiation compartment, from the TdT+ precursor cell to the mature B lymphocyte.

Antigens, Surface↗
PubMed1988

Heparin-released plasma lipase activities, lipoprotein and apoprotein levels in young adult cyclists and sedentary men.

Serum lipid and lipoprotein levels, apolipoproteins A-I and B, and lipolytic enzyme activities were studied in 14 young male cyclists and in 21 age-matched sedentary controls. While there were no significant differences in serum cholesterol between the two groups, the cyclists showed a significant decrease in serum triglycerides (P less than 0.05) and LDL cholesterol (P less than 0.05) and had significantly higher levels of HDL cholesterol (P less than 0.01) and HDL2 cholesterol (P less than 0.001). Significantly lower serum cholesterol/HDL cholesterol (P less than 0.001) and LDL cholesterol/HDL cholesterol (P less than 0.001) ratios and a significantly higher HDL2 cholesterol/HDL3 cholesterol ratio (P less than 0.001) were observed in the athletes. Serum apolipoprotein B was lower and the Apo B/Apo A-I ratio significantly reduced in the athletes. No significant differences emerged between the two groups in plasma post-heparin lipoprotein lipase activity (LPL) and in hepatic triglyceride lipase activity (HTGL), and there were no correlations between HDL cholesterol and lipolytic enzyme activities. In conclusion, this cross-sectional study may indicate that an aerobic training program such as cycling is associated with an advantageous lipoprotein pattern; some factors other than lipolytic activity may contribute to increase the HDL cholesterol levels in physical training.

Adolescent↗