Biomedical subjects

M De Marchi

Publications and source records attributed to M De Marchi.

At least 19 recordsLinked to original sources

PubMed1992

Relation of body fat distribution in men and degree of coronary narrowings in coronary artery disease.

This study evaluates the relation between body fat distribution and severity of coronary artery disease (CAD). The study sample comprised 33 patients with angiographically demonstrated CAD and 10 angiographically normal control subjects. Body fat distribution was estimated by computed tomography and degree of coronary narrowings by angiographic score. Body weight, body mass index and total and subcutaneous abdominal adipose tissue areas showed no statistical differences in the 2 groups; visceral abdominal adipose tissue area and the visceral to subcutaneous abdominal adipose tissue area ratio were significantly higher in patients with CAD (p < 0.05). There was a significant correlation between visceral fat and triglycerides, apoprotein B and sum of glucose and insulin during glucose oral tolerance test. Sum of insulin during glucose oral tolerance test, visceral abdominal adipose tissue area and visceral/subcutaneous abdominal adipose tissue area ratio correlated significantly with severity of CAD, as evaluated by coronary score in all subjects and in CAD patients alone. Stepwise multiple regression analysis using the coronary score as the dependent variable and anthropometric and metabolic parameters as independent variables shows that in all subjects and in CAD patients alone, visceral/subcutaneous abdominal adipose-tissue area ratio entered the regression first and the sum of insulin during glucose oral tolerance test second. The results suggest that visceral abdominal adipose tissue area and visceral to subcutaneous abdominal adipose tissue area ratio may be cardiovascular risk factors.

Abdomen↗

PubMed1992

Alport syndrome caused by a 5' deletion within the COL4A5 gene.

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.

Blotting, Southern↗

PubMed1992

Molecular characterization of the P and I variants of alpha 1-antitrypsin.

Two rare alpha 1-antitrypsin variants, Pi I and Plowell, originally defined at the protein level through isoelectric focusing, were characterized at the DNA level by the polymerase chain reaction and direct sequencing. The I variant was confirmed in one individual and three independent families to result from a CGC(Arg) to TGC(Cys) transition at codon 39, within exon II. In our population, the Pi I variant might be more common than expected. The Plowell allele was shown in one M3P heterozygous individual to be due to a GAT(Asp) to GTT(Val) change at codon 256, in agreement with a previous study based on hybridization with allele-specific oligonucleotides.

Adult↗

PubMed1992

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the alpha 5(IV) chain.

Base Sequence↗

PubMed1992

Evaluation of regional body fat distribution: comparison between W/H ratio and computed tomography in obese women.

Measurements of regional body fat distribution as determined by waist-to-hip ratio and visceral-to-subcutaneous adipose tissue ratio were compared in 63 obese women. Subjects were divided into three CT-evaluated tertiles on the basis of visceral-to-subcutaneous adipose tissue ratio (group I, 0.05-0.231; group II, 0.232-0.344; group III, 0.345-0.781). The three groups showed no appreciable differences in body weight, body mass index or total abdominal adipose tissue. Waist-to-hip ratio values were significantly lower in group I than in groups II and III. There was no statistically significant difference between groups II and III. Visceral abdominal adipose tissue was significantly and progressively higher in the three groups. Subcutaneous abdominal adipose tissue was significantly lower in group III than in group I. All metabolic variables and systolic and diastolic blood pressure were higher when visceral-to-subcutaneous adipose tissue ratio cut-off values were increased. Waist-to-hip ratio was significantly correlated with total adipose tissue, body mass index, visceral abdominal adipose tissue and subcutaneous abdominal adipose tissue. Visceral-to-subcutaneous adipose tissue ratio was correlated with visceral abdominal adipose tissue (r = 0.84, P < 0.01) and subcutaneous abdominal adipose tissue (r = -0.28, P < 0.05). There was no correlation between visceral-to-subcutaneous adipose tissue ratio and body mass index or total abdominal adipose tissue. Visceral-to-subcutaneous adipose correlated more closely with metabolic variables than did waist-to-hip ratio. Partial correlations between waist-to-hip ratio and visceral-to-subcutaneous adipose tissue ratio and metabolic variables, adjusted for body mass index, showed statistically significant relationships for visceral-to-subcutaneous adipose tissue ratio, but not for waist-to-hip ratio. Visceral-to-subcutaneous adipose tissue ratio correlated with waist-to-hip ratio in the study population as a whole, but only in group I did the correlation between visceral-to-subcutaneous adipose tissue ratio and waist-to-hip ratio prove statistically significant. The present study demonstrates that visceral-to-subcutaneous adipose tissue ratio is a better index of body fat distribution than waist-to-hip ratio.

Adipose Tissue↗

PubMed1992

Body fat distribution in pre- and post-menopausal women: metabolic and anthropometric variables and their inter-relationships.

The aim of the study was to compare body fat distribution and metabolic variables in pre- and post-menopausal women. Body fat distribution was measured using abdominal circumference and computerized tomography. No significant differences were found between the two groups as regards body weight, body mass index, waist-hip ratio and total abdominal adipose tissue areas. Subcutaneous abdominal adipose tissue areas were significantly higher in premenopausal women whereas visceral abdominal adipose tissue areas and the subcutaneous to visceral abdominal adipose tissue area ratios were significantly higher in post-menopausal subjects. After adjusting for body mass index, no significant differences emerged between the two groups as regards total abdominal adipose tissue areas, waist circumference, hip circumference and waist-hip circumference ratio; subcutaneous abdominal adipose tissue areas were significantly lower and both visceral abdominal adipose tissue areas and visceral to subcutaneous abdominal adipose tissue area ratios significantly higher in post-menopausal women (P less than 0.01). Basal glucose, sum of blood glucose values during oral glucose tolerance test and blood cholesterol values were significantly higher in the post-menopausal group (P less than 0.05), while no significant difference was observed in sum of blood insulin values during oral glucose tolerance test. Basal plasma insulin values, systolic blood pressure and diastolic blood pressure were higher in post-menopausal women, though the differences were not significant. Only blood cholesterol was significantly higher in post-menopausal women after adjusting for visceral abdominal adipose tissue areas. Positive correlations emerged between age and waist-hip ratio (P less than 0.05), visceral abdominal adipose tissue areas and the visceral to subcutaneous abdominal adipose tissue area ratio (P less than 0.001). A negative correlation was established between age and subcutaneous abdominal adipose tissue areas (P less than 0.01). There was a significant correlation between visceral abdominal adipose tissue areas and metabolic and haemodynamic variables in both pre- and post-menopausal women. In pre-menopausal women, body mass index correlated with basal glucose, basal insulin, sum of glucose during oral glucose tolerance test and systolic and diastolic blood pressure (P less than 0.05). When stepwise multiple regression analysis was used to evaluate the joint effect of anthropometric variables on metabolic variables, visceral abdominal adipose tissue area proved to be the most powerful variable for predicting metabolic disorders. Our data suggest that visceral abdominal adipose tissue areas and visceral to subcutaneous abdominal adipose tissue area ratios increase with age. Obesity correlates directly with the amount of subcutaneous fat, but not with the distribution pattern.(ABSTRACT TRUNCATED AT 400 WORDS)

Adipose Tissue↗

PubMed1991

Sonography detection of small intra-abdominal fat variations.

The aim of this study was to check the reliability of sonography in measuring small variations in quantities of subcutaneous and intra-abdominal fat. Twenty-six obese women (BMI 39 +/- 6) underwent a 15 day very low calorie diet. The study included, both before and after very low calorie diet, computed tomography measurements of total (AT), visceral (VAT) and subcutaneous (SAT) adipose tissue areas, visceral/subcutaneous area ratio (V/S), waist/hip circumference ratio measurements (W/H), and ultrasound measurements of abdominal subcutaneous skin-muscle thickness, intra-abdominal muscle-aorta thickness and intra-abdominal/subcutaneous thickness ratio. Weight reduction was from 101 +/- 17 to 95 +/- 16 kg (P less than 0.001). W/H dropped from 0.83 +/- 0.06 to 0.82 +/- 0.07 (n.s.). VAT dropped from 158 +/- 72 to 134 +/- 61 cm2 (P less than 0.005), SAT from 572 +/- 151 to 566 +/- 164 cm2 (n.s.) and V/S from 0.29 +/- 0.15 to 0.25 +/- 0.11 (P less than 0.01). Abdominal subcutaneous fat thickness decreased from 36 +/- 8 to 35 +/- 10 mm (n.s.), intra-abdominal thickness from 39 +/- 25 to 20 +/- 20 mm (P less than 0.001) and intra-abdominal/subcutaneous from 1.1 +/- 0.7 to 0.8 +/- 0.6 (P less than 0.005). VAT measurement accurately identified small intra-abdominal fat variations. W/H could not evaluate visceral fat loss, because of simultaneous decreases in waist and hip circumferences. Ultrasound was able to measure small reductions in intra-abdominal fat.

Abdomen↗

PubMed1991

Characterization of hepatitis delta antigen gene of a highly pathogenic strain of hepatitis delta virus.

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Amino Acid Sequence↗

PubMed1989

New types of multiple and single gene deletions in the human IgCH locus.

The locus for human immunoglobulin heavy chain constant region genes (IgCH) is characterized by a significant frequency of deleted or duplicated haplotypes, due to unequal crossing-over events. Four types of deletions and one duplication have been reported so far. We describe here a molecular study of four cases of IgCH deletions. Two of the three types of deletions are reported here for the first time. Analysis of genetic markers associated with the deleted haplotypes pointed to the independent origin of similar deletions and the involvement of intergenic sequences in the mispairing-recombination process. The reduced or absent transcription of the C gamma 4 gene in two C gamma 2-deleted haplotypes offers an insight into the requirements for the isotype switch mechanism.

Blotting, Southern↗

PubMed1989

Patients with different lung cancers show normal expression of fra(3)(p14.2) in aphidicolin-treated lymphocyte cultures.

Among common fragile sites, fra(3)(p14.2) is the most expressed either spontaneously or after treatment with aphidicolin (APC) in lymphocyte cultures. Because recurrent chromosomal abnormalities involving the short arm of chromosome 3 in tumor tissue are present in various malignancies, including lung cancer, the induction of fra(3)(p14.2) elicited by APC was investigated with the aim of detecting possible interindividual polymorphism in its expression that might be relevant to predisposition toward cancer-related events. Thirty-four patients affected with various lung cancers (14 squamous cell carcinomas, 13 adenocarcinomas, and seven small cell carcinomas) and 14 controls (patients undergoing routine routine follow-up after coronary by-pass) were included in this study. The frequency of fra(3)(p14.2) expression was not significantly different among the patients grouped either by disease or by sex and age. It was estimated that fra(3)(p14.2) accounts for about 20% of total breakage in APC-treated lymphocyte cultures from the general population.

Adenocarcinoma↗

PubMed1988