PubMed Health⌕ Search

Biomedical subjects

A Marongiu

Publications and source records attributed to A Marongiu.

18 recordsLinked to original sources
PubMed2004

Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples.

The quantitative fluorescent PCR (QF-PCR) assay, introduced during the last few years, allows prenatal diagnoses of common chromosome aneuploidies in a few hours after sampling. We report the first assessment of QF-PCR performed on a large cohort of 18,000 consecutive clinical specimens analysed in two different Centres. All samples were analysed by QF-PCR using several selected STR markers together with amelogenin and, occasionally, SRY for fetal sexing. Results were compared with those obtained by conventional cytogenetic analysis. In 17,129 tests, normal fetuses were detected by QF-PCR. No false positives were observed. All 732 cases of trisomy 21, 18, 13, triploidies, double trisomies as well as all but one fetuses with X and Y aneuploidies were correctly diagnosed. Chromosome mosaicism could also be suspected in several samples. In some cases of in vitro culture failures, QF-PCR was the only evidence of fetal X, Y, 21, 18 and 13 chromosome complement. QF-PCR proved to be efficient and reliable in detecting major numerical chromosome disorders. The main advantages of the molecular assay are its very low cost, speed and automation enabling a single operator to perform up to 40 assays per day. QF-PCR relieves anxiety of most parents within 24 h from sampling and accelerates therapeutic interventions in the case of an abnormal result. In countries where large scale conventional cytogenetics is hampered by its high cost and lack of technical expertise, QF-PCR may be used as the only prenatal diagnostic test.

Aneuploidy↗
PubMed2001

Human papillomavirus 16 E6 polymorphisms in cervical lesions from different European populations and their correlation with human leukocyte antigen class II haplotypes.

Infection with high-risk human papillomavirus (HPV) is necessary for the development of a cervical lesion, but only a fraction of precursor lesions progress to cancer. Additional factors, other than HPV type per se, are likely to increase the probability for progression. Intratype genome variations have been reported to be associated with viral persistence and the development of a major cervical disease. We have recently shown that the prevalence of specific HPV16-E6 variants in invasive cervical cancer (ICC) varies between Italian and Swedish women. To extend our initial study we have analyzed E6 variants in cervical lesions from Czech women, ranging from low-grade cervical intraepithelial neoplasia (LCIN) to ICC and scaled up the sample size of our initial study of Swedish and Italian women. In addition, we have correlated the cases of cancers with human leukocyte antigen (HLA) class II haplotypes. In line with our earlier observation, the distribution of specific HPV16-E6 genotypes in CIN and ICC varied in the 3 cohorts. For instance, the HPV16-E6 L83V variant, which has been found to be positively associated with ICC in Swedish women (p = 0.002), was more prevalent in LCIN than in ICC in Italian and Czech women (p = 0.01 and = 0.03, respectively). These data indicate that host genetic factors, such as HLA polymorphism, may determine the potential oncogenicity of the HPV16-E6 L83V variant. Indeed, the DR04-DQ03 haplotype, which is approximately 3-fold more abundant in the normal Swedish population than in those in Italy and the Czech Republic, was found to be positively associated with HPV16-E6 L83V in the 3 cohorts investigated (p = 0.01). This observation may explain why L83V is a risk factor more in Sweden than in the other 2 countries.

Cross-Sectional Studies↗
PubMed2001

p53 codon 72 polymorphism and various human papillomavirus 16 E6 genotypes are risk factors for cervical cancer development.

Risk factors other than human papillomavirus (HPV) infection per se for cervical cancer development have been investigated recently. It was suggested that HPV 16 E6 variants and the p53 codon 72 arginine polymorphism could be progression markers. Indeed, it has been demonstrated that specific E6 variants and p53 arginine were both enriched in cancer. However, especially with regard to the latter, divergent results have been reported. Our aim was thus to investigate whether p53 arginine is important for cervical carcinogenesis by scaling up samples of the two European cohorts, the initial results of which were reported previously. In addition, we have assessed the occurrence of p53 codon 72 arginine, in combination with specific HPV 16 E6 genotypes. We found p53 arginine to be increased in cancer of both cohorts, consistent with our previous concept. Although specific E6 genotypes increased gradually with the severity of the lesion, p53 arginine was enriched in cancer only. Moreover, the frequency of the arginine allele was similar in groups with different E6 genotypes. It is concluded that p53 arginine is a risk factor for cervical cancer but probably acts independently of E6 variants.

Arginine↗
PubMed1984

[Hematochemical parameters in sheep and goats of Sardinian breeds. II) Total blood cholesterol].

It has been studied the total plasma cholesterol rate in lactating or dry sheep and goats of Sardinian breed. The values obtained for the four different groups of subjects have been compared with the "t of Student". While the difference between the sheep groups has seemed very accentuated, it has appeared hardly significant between the goat groups. Highly significant difference has also been found between lactating sheep and goats whereas there was no significant difference among the groups of dry subjects.

Animals↗
PubMed1984

[Hematochemical parameters in sheep and goats of Sardinian breeds. I) Electrophoretic picture of plasma proteins].

It has been studied the electrophoretic picture of plasma proteins of lactating and dry sheep and goats of Sardinian-breed. The values of the single fractions obtained for the four different groups of subjects have been compared with the "t of Student". The statistically significant differences between values of albumin and gammaglobulin fractions obtained comparing sheep and goats can probably derive from genetic factors. In general significant differences in values of several fractions associated with lactation have not been noticed.

Animals↗
PubMed1978

Growth retardation, skeletal maturation and thyroid function in children with homozygous beta-thalassaemia.

Growth rate, skeletal maturation and thyroid function were measured in fifty thalassaemic children (age 2-13 years) and in fifty controls (matched for sex and age who were not anaemic. Growth retardation was present in several patients during the first years of life and affected almost all subjects examined when they were approaching puberty. Discrepancy between bone and height age in patients was not significantly different from controls. The finding of low T4 and T3 with a high TSH indicated thyroid hypofunction. This finding, already present early in life, did not worsen with increasing age. In beta-thalassaemia hypothyroidism cannot be the cause of retarded growth since there is no relationship between the impairment in thyroid function and severity of growth retardation. In addition, height age was not different from bone age, while a discrepancy is a constant feature of low stature due to hypothyroidism.

Adolescent↗
PubMedDate not supplied

Systolic time intervals in hyperthyroidism.

PEPI (pre-ejection period index), QS2I (total electromechanical systolic index), LVETI (left ventricular ejection time index), and PEP/LVET ratio were measured in 35 thyrotoxic patients. None of the patients had clinical evidence of heart disease nor received drugs which might have affected the systolic time intervals. the hyperthyroid subjects showed significant shortening of PEPI and significant reduction of PEP/LVET, which returned within normal limits when the patients became euthyroid during treatment. No correlation could be found between T3, T4, FTI and PEPI or PEP/LVET. However, serial measurements indicated that the fall toward the normal range of PEPI parallelled that of T3; the latter is considered the most important index of thyroid function. Our study suggests that PEPI and PEP/LVET ratio may be of great usefulness in detecting hemodynamic alterations in subjects with uncomplicated hyperthyroidism. Moreover, these methods may facilitate the diagnosis in unusual types of hyperthyroidism occurring in the absence of clinical signs of toxicosis. In addition, PEPI and PEP/LVET appear to be useful in detecting T3 toxicosis. Finally, serial controls of PEPI could represent a useful index to monitor the response to therapy.

Adolescent↗