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Biomedical subjects

S Muntoni

Publications and source records attributed to S Muntoni.

At least 37 records · Page 2Linked to original sources
PubMed1993

Increasing prevalence of juvenile onset type 1 (insulin-dependent) diabetes mellitus in Sardinia: the military service approach.

In order to obtain new and more detailed information about temporal trends and geographic distribution of Type 1 (insulin-dependent) diabetes mellitus in Sardinia, we screened a series of birth cohorts (1936-1973) of all male army conscripts aged 18-19 years, filed in the Sardinian Conscript Register where Type 1 diabetes is a cause of rejection. A total of 678 diabetic subjects, born and permanently residing in Sardinia, was identified. The point prevalence (x 1000) at the age of 20 years in the birth cohorts ranged from values close to zero for the first ten cohorts (1936-1945) up to a maximum of 3.08 (95% confidence limits 2.28-4.08) for the 1966 cohort and continued high thereafter although an apparent decrease was observed from the early 1970s birth cohorts. Type 1 diabetes was distributed throughout the four provinces of Sardinia with no particularly significant heterogeneity; however, in accordance with the geographical distribution of diabetes cases of the Eurodiab Ace survey (1989-1990), the highest prevalence of the disease was observed in the Cagliari and Oristano provinces, followed by Nuoro and Sassari. These data suggest a gradually increasing trend of male Type 1 diabetes prevalence in Sardinia with a 29-fold increase between the late 1930s and the late 1960s birth cohorts. This seems to confirm the high incidence of Type 1 diabetes in the 0-14 and 0-29 year age groups recently reported among Sardinians during the Eurodiab Ace collaborative multicentre study.

Adolescent↗
PubMed1992

Serum lipoprotein profile in the Mediterranean variant of glucose-6-phosphate dehydrogenase deficiency.

Sardinian males with erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) deficiency have lower serum levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (ApoB), compared to normals. Since the enzyme deficiency is expressed also in nucleated cells, we studied cholesterol (C) and DNA synthesis and LDL-receptor expression in freshly isolated circulating mononuclear cells from normal and G-6-PD-deficient Sardinians. Synthesis of C (as 14C-acetate incorporation) and of DNA (as 3H-thymidine incorporation) was clearly reduced, both in basal state and after PHA stimulation, in G-6-PD-deficient cells compared to normal cells. On the other hand, no clear influence of G-6-PD deficiency on LDL-receptor expression could be demonstrated. The Mediterranean variant of G-6-PD deficiency is characterized, whatever the metabolic mechanism may be, by a serum lipoprotein pattern of reduced atherogenicity.

Adult↗
PubMed1992

The HLA DQB1*0502 allele is neutrally associated with insulin-dependent diabetes mellitus in the Sardinian population.

In the Sardinian population a very high incidence of insulin-dependent diabetes mellitus (IDDM) and the lack of HLA-DR2 protective effect due to the high frequency of the A2, Cw7, B17, 3F31, DR2, DQw1 extended haplotype has been reported. This haplotype, carrying a Serine at position 57 of the DQB1*0502 allele, has been previously reported to be underrepresented in patients when compared to controls. In order to provide an explanation for this finding, we defined by RFLP analysis the HLA haplotype of 45 Sardinian IDDM patients and 49 controls. All DR-2DQw1 subjects were molecularly characterized at the HLA DQA and DQB loci. All DR2-positive patients and the vast majority of the DR2-positive controls had the DQB1*0502 allele at the DR2-linked DQB1 locus, with no statistically significant difference between the two groups. All DQA1 genes were the ones expected, with only two exceptions. Nine out of 10 of the DR2-positive patients were compound heterozygotes for DQB1*0201/DQB1*0502 alleles; only this allele combination was significantly increased (p less than 0.0003). Our data suggests that a) the DQB1*0502 allele is neutral for IDDM development and b) the susceptibility to IDDM in our DR2-positive patients is related to the compound heterozygous state between the neutral DQA1*0102/DQB1*0502 and the susceptibility DQA1*0501/DQB1*0201 alleles.

Adolescent↗
PubMed1992

High incidence rate of IDDM in Sardinia. Sardinian Collaborative Group for Epidemiology of IDDM.

OBJECTIVE: To provide reliable data on the incidence of IDDM in Sardinia and contribute to a better understanding of its geographical variability throughout Europe. RESEARCH DESIGN AND METHODS: All newly diagnosed cases of IDDM with onset less than 30 yr of age between 1 January 1989 and 31 December 1990 among residents in Sardinia were recorded. Primary ascertainment was based on notification by all Sardinian hospitals, outpatient clinics, family doctors, and pediatricians. The local IDDM patient association served as the secondary and independent source. RESULTS: The completeness of ascertainment was 92.8%. The annual incidence rate of IDDM (per 100,000) over the 2-yr period was 30.7 in the 0-14-yr-old age-group and 24.1 in the entire 0-29-yr-old range, respectively, with no significant differences between the two groups. Male/female ratios were 1.25 and 1.55, respectively. No significant seasonal variation in incidence was observed. CONCLUSIONS: Sardinia appears to have the second-highest IDDM incidence rate in Europe after Finland, and the island contradicts the generally accepted rule of a south-to-north incidence gradient.

Adolescent↗
PubMed1992

Serum lipoprotein pattern as modified in G6PD-deficient children during haemolytic anaemia induced by fava bean ingestion.

In the present study, plasma lipid concentrations were determined at different times after admission in sera from G6PD-deficient children during haemolytic crisis induced by fava bean ingestion. Reductions in total, LDL and HDL cholesterol were found in association with the maximum of bone marrow hyperplasia. A return towards normal values occurred with regression of the disease. No changes in other lipid parameters were observed. These data suggest that alterations of lipoprotein pattern, other than in experimental animals, are also present in humans with non-malignant proliferative processes. These changes appear to be a consequence of the disease, probably due to an increased utilization of cholesterol by proliferating cells.

Anemia, Hemolytic↗
PubMed1991

Mean levels and distribution of some risk factors for atherosclerosis in Sardinia: the ATS-Sardegna Survey.

Six population samples of randomly chosen men and women aged 20-59 years in the four provinces of the island of Sardinia, for a total of 5,697 individuals (overall participation 55%), were examined to determine the mean levels and distribution of some risk factors for atherosclerosis. A remarkable uniformity of such levels, with some minor exceptions, was found throughout the island. The overall, age-standardized mean levels for the factors considered are as follows (men and women, respectively): total cholesterol (TC) (mg/dl) 204 and 196; LDL-cholesterol (LDL-C) (mg/dl) 131 and 125; apolipoprotein B (ApoB) (mg/dl) (five out of six areas) 112 and 104; HDL-cholesterol (HDL-C) (mg/dl) 48 and 53; triglyceride (TG) (mg/dl) 117 and 89; systolic blood pressure (mmHg) 129 and 128; diastolic blood pressure (mmHg) 81 and 80; body mass index (BMI) [kg/(m)2] 26 and 25; prevalence of smokers (%) 48 and 15; cigarettes per day among smokers 19 and 11. A regular increase with increasing age exists for TC, LDL-C, ApoB, blood pressure (systolic and diastolic) and BMI. Compared to the results of a previous survey eight years earlier, an unfavorable trend is in progress, particularly for TC levels in both sexes and smoking among women.

Adult↗
PubMed1975

[Metabolic aspects of obesity].

Classification of obesity in accordance with a new anatomical and functional criterion means that a hyperplastic and a hypertrophic form can be distinguished. The distinction is of both academic and practical significance, since different metabolic changes are observed in the two forms. Hyperplastic obesity appears early in life and is particularly intractable. It is not usually accompanied by dysmetabolic signs, however. Hypertrophic obesity, on the other hand, is accompanied by endocrine and metabolic alterations, marked by insulin resistance, sugar intolerance, hyperinsulinaemia, hypertriglyceridaemia, and hyperuricaemia. Recent data are cited for the proposition that these changes constitute a closed pathogenetic concatenation creating a vicious circle. Fatty acids play a particularly important part in this context, since they are synthetized, released, presented and oxidated to a pathological degree.

Carbohydrate Metabolism↗