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Biomedical subjects

F Breda

Publications and source records attributed to F Breda.

9 recordsLinked to original sources

HLA antigens and haplotypes associated with idiopathic haemochromatosis in Veneto: peculiar association with HLA-A3,B35.

HLA-A and HLA-B antigens were determined in 16 unrelated subjects orginating from Veneto affected by idiopathic haemochromatosis (IH). HLA-A3 was found in 13/16 patients vs. 300/1,348 controls (p less than 0.00005). Prevalences of A3,B35 haplotype were 0.4375 in patients vs. 0.0816 in controls (p less than 0.0005). Linkage disequilibrium analysis proved the existence of a positive third-order linkage disequilibrium among IH, HLA-A3 and HLA-B35 alleles. Our data confirm the close association of IH and HLA-A3 and prove the peculiar association of the disease with A3,B35 haplotype in north-eastern regions of Italy. The positive third-order linkage disequilibrium suggests a remote event (mutation, recombination or immigration) as origin for IH and A3,B35 association.

Alleles

[Pericardial liquid layer as an occasional finding in internal echography. Normal patterns and pathologic limits].

A small amount of fluid in the pericardial sac is often observed incidentally during upper abdomen US studies. In order to assess the normality range for this finding, 500 patients undergoing liver US were evaluated for the presence of pericardial fluid, the thickness of which was subsequently measured in positive cases. In a group of 20 patients with pericardial fluid thickness ranging 5-9 mm and in 6 cases with pericardial effusion greater than 10 mm, cardiologic evaluation was performed (clinical examination, ECG, echocardiography). Pericardial fluid was quite a common finding (20.8%) which had no clinical relevance when less than 10 mm. On the contrary, its clinical relevance was high when greater than 10 mm, and extending around the heart.

Humans

Red cell esterase-d-polymorphism in the Veneto population.

630 individuals and 102 mother/child pairs from the Veneto provinces were examined for their red cell EsD by Cellogel electrophoresis. Compared with the horizontal starch-gel electrophoresis no differences in the zymogram patterns have been found. The gene frequencies observed (EsD1 = 0.8556; EsD2 = 0.1444) differ only slightly from those reorted for various European populations and are nearly identical with data for other Italian populations. Family studies confirmed the Mendelian co-dominant inheritance.

Adult

[Serum osteocalcin in hyperthyroidism].

Several bone metabolism biochemical parameters were measured to evaluate the increased serum osteocalcin (sBGP) in hyperthyroidism. Twenty patients (19 women and 1 man, aged 22-69) and 20 age and sex-matched healthy subjects were examined. The following serum measurements were performed: calcium, phosphate, mid-molecule PTH, calcitonin, 25OH vitD, alkaline phosphatase, total and free thyroid hormones; urinary excretion of calcium, hydroxyproline and creatinine was also measured. The results (mean +/- standard error) show significant increases of sBGP (16.4 +/- 1.02 ng/mL; p less than 0.001), serum calcium (10.1 +/- 0.1 mg/dL; p less than 0.001), alkaline phosphatase (144.0 +/- 11.7 UI/L; p less than 0.001), urinary calcium (315.6 +/- 48.5 mg/g urinary creatinine; p less than 0.001) and hydroxyproline (43.0 +/- 6.1 mg/g urinary creatinine; p less than 0.001). A significant correlation between total and free thyroid hormones and sBGP was found. Accelerated bone turnover in hyperthyroid patients is therefore confirmed: both osteoclastic bone resorption, as suggested by increased serum and urinary calcium and urinary hydroxyproline, and osteoblastic bone formation, as suggested by increased serum osteocalcin and alkaline phosphatase, are stimulated.

Adult

[Hypogonadism in idiopathic hemochromatosis].

We studied the prevalence and the pathogenesis of hypogonadism in 16 male patients affected by idiopathic haemochromatosis. Thirteen patients were untreated, 14 had liver cirrhosis; alcohol intake was actually less than 80 g/die. LH and FSH were measured in the basal state and after iv. bolus of 100 micrograms of synthetic gonadotropin-releasing hormone. Plasma concentrations of testosterone, LH-FSH were determined, respectively, by RIA and LIA. Ten patients complained of loss of libido and potency (Group A): this group, as compared to controls, had significant reductions of testosterone, basal gonadotropins and pituitary responses. Nine of these patients disclosed testicular hypotrophy and low blood testosterone: 8 showed hypogonadotropic hypogonadism with low testosterone and LH-FSH responses, often accompanied by reduced basal concentrations of gonadotropins; one patient had a primitive testicular failure with low testosterone but a high response of LH to the GnRH. The other 6 patients had normal sexual activity (Group B): their testicular volumes and testosterone concentrations were normal, but 2 patients disclosed both LH and FSH hyperresponsiveness to the GnRH, which suggests an early primitive testicular failure. Our data emphasize the high prevalence of hypogonadism in male haemochromatosis subjects and disclose that sexual activity, testicular volume and laboratory results are tightly correlated. Stimulation with GnRH proved that hypothalamic-pituitary dysfunction is by far the most frequent cause of testicular failure in idiopathic haemochromatosis.

Adult

[The side effects of phlebography of the lower extremities using iohexol. A prospective study].

In this prospective study 463 consecutive outpatients, who had undergone phlebography because of clinically suspected deep venous thrombosis (DVT) were examined with clinical follow-up and impedance plethysmography to evaluate the rate of contrast media complications. Seventy-nine patients had immediate and mild side effects, and one had moderate side effects (bronchospasm); no patient suffered from severe life-threatening conditions. There was only one case of DVT which occurred after an initially negative phlebography. In a subgroup of 40 patients, who underwent iodine-125-fibrinogen scanning after phlebography, the study was positive in 9 cases. None of them presented with any evidence of DVT at follow-up phlebography. Contrast phlebography with iohexol is a safe and comfortable procedure. Low-osmolality nonionic contrast media are well tolerated by the patient.

Adolescent