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M Bourel

Publications and source records attributed to M Bourel.

At least 73 records · Page 4Linked to original sources
PubMed1981

Assessment of liver iron content in 271 patients: a reevaluation of direct and indirect methods.

Two direct methods for hepatic iron assessment (liver iron concentration and stainable liver iron--judged by a new histologic grading) and three indirect methods (serum iron and transferrin saturation, deferoxamine-chelation test, and ferritinemia) were reevaluated in 271 patients. These patients consisted of: 103 with idiopathic hemochromatosis, 39 with alcoholic cirrhosis, 54 with noncirrhotic alcoholic liver diseases, 13 with nonalcoholic liver diseases, and 62 with miscellaneous disorders. The results indicate that: (a) liver iron concentration, well correlated with mobilized excess iron (r = 0.88; p < 0.01), is the method of reference and validates the proposed histologic grading; (b) serum ferritin, which is in good correlation with liver iron concentration (r = 0.80; p < 0.01), is a valuable indirect method for hepatic iron evaluation; (c) regarding the other indirect methods a "boundary zone" may be delimited, thus corresponding to liver iron concentration values of 10.7 mumol/100 mg dry liver weight, beyond which values of serum iron less than 28.6 micrometer or transferrin saturation less than 45% or chelatable iron less than 45 mumol/24 h are rare; and (d) using the various indirect methods, there is a marked risk in idiopathic hemochromatosis to underestimate and in alcoholic liver diseases to overestimate hepatic iron content.

Deferoxamine↗
PubMed1980

[Chronic alcoholic liver disease. Ionized blood calcium measurements in 24 patients (author's transl)].

Measurements of ionized blood calcium were carried out in 38 subjects: 14 controls and 24 patients with chronic alcoholic liver disease (non-cirrhotic in 7, cirrhotic compensated in 2 and cirrhotic decompensated in 15). Compared with the control group, a significant decrease in ionized calcium was found in patients with decompensated cirrhosis. Through secondary hyperparathyroidism, this hypocalcaemia might contribute to the demineralization of the bones observed in cirrhotic patients.

Adult↗
PubMed1980

Perhexiline maleate toxicity on human liver cell lines.

When added to the culture medium of human liver cell lines, perhexiline maleate induced formation of numerous myeloid bodies containing unicentric or multicentric smooth membranes within a few days. The nine lysosomal enzyme activities studied, except for beta-galactosidase which decreased, remained unchanged. These results indicate that on cultured human liver cells perhexiline maleate has an effect similar to that described on hepatocytes of some patients treated with this drug and suggest that myeloid body formation is not due to impairment of lysosomal enzyme activities.

Adult↗
PubMed1980

Evaluation of a liver transplant by Tc-99m dimethyl-IDA scintigraphy.

In liver-transplant patients, it is always difficult to differentiate between rejection crises and extrahepatic biliary obstruction on the basis of standard biochemical tests alone. A case is reported of a patient who received a transplant following total hepatectomy performed because of a hepatoma. Scintigraphy with Tc-99m N-(dimethylphenylcarbamoylmethyl)iminodiacetic acid pointed conclusively to an obstructive process, which was confirmed at re-operation.

Cholestasis, Extrahepatic↗
PubMed1980

Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene.

The hypothesis has been advanced that the two genes on chromosome 6 determining idiopathic hemochromatosis are not identical alleles and therefore that the disease is not recessively inherited, but rather that two different genes are involved. A study of 63 families points to: (a) the rarity with which a single hemochromatosis gene finds biochemical expression (in only 1 of 5 cases), as revealed through determinations of serum iron, serum ferritin and the desferrioxamine test; (b) no difference in HLA-antigen marking between genes with and those without biochemical expression: (c) no difference other than that produced by chance in the biochemical expression of the two genes in families; and (d) the finding in one highly informative family of identical expression of the two genes. It is concluded that idiopathic hemochromatosis is determined by two homologous alleles in accordance with the classical mode of recessive inheritance.

Adolescent↗
PubMed1979

Serum ferritin as a possible marker of the hemochromatosis allele.

To determine whether a correlation exists between the biochemical expression of hemochromatosis and the HLA genotype, we studied 174 family members of 32 persons with the disease. Persons who shared both HLA haplotypes with the proband (and presumably having two hemochromatosis alleles) differed significantly from those who shared only one haplotype (and presumably having one hemochromatosis allele) in terms of serum iron (P less than 0.001 for both sexes), unsaturated iron-binding capacity (P less than 0.01 for female and P less than 0.0001 for male subjects) and serum ferritin (P less than 0.0001 for female and P less than 0.00001 for male subjects). The only significant difference between relatives having one hemochromatosis allele and age and sex-matched controls was related to serum ferritin values in male subjects (P less than 0.05, despite considerable overlap). In our hands, serum ferritin was the best indicator of disordered iron metabolism and was elevated among most homozygous but among few heterozygous family members.

Adolescent↗
PubMed1979

[Idiopathic haemochromatosis. Pathogenic and genetic aspects. Detection and prevention (author's transl)].

The basic disorder of iron metabolism in idiopathic haemochromatosis finds expression on at least two levels: the intestinal mucosa (increased iron absorption) and the liver. Its exact nature, however, remains obscure. The role of iron overload in the pathogenesis of the disorder seems clear. Lysosome disruption has recently been proposed as a possible pathogenic factor. Phenotypic family studies have lent considerable weight to the hypothesis of a recessive transmission of idiopathic haemochromatosis. Demonstration of a close link between the disease and the HLA antigen A3 and haplotype A3, B14 has made it possible: to remove all doubt as to the hereditary nature of the disease; identify the underlying gene as located on chromosome 6 near the A locus of the HLA system; demonstrate a recessive mode of transmission; and achieve the early detection of individuals at risk in the family of a patient with the disease. Thanks to this possibility of early detection, the feasability of preventive measures is greatly enhanced.

Alleles↗
PubMed1979

[Idiopathic haemochromatosis. I. Clinical, biological and therapeutic aspects (author's transl)].

Over the last few years the study of idiopathic haemochromatosis has not brought to light any basic change in the overall pattern of organic and metabolic damage produced by the disease and comprising altered skin pigmentation, liver disease, diabete mellitus, heart disease, endocrine dysfunction, bone and joint disease. Nevertheless, certain facets of the clinical picture have been described and progress has been made in understanding the signs of the disease. Although the desferrioxamine test is no without merit, especially if performed after vitamin C administration, for measuring the extent of iron overload, two methods seem better equipped: serum ferritin radioimmunoassay and measurement of iron concentration in a liver biopsy specimen. The HLA antigen A3 and, more especially, haplotype A3, B14, are markers for the genetic basis of the disease. Repeated phlebotomy therapy generally brings about symptomatic improvement and a significant increase in survival.

Bloodletting↗
PubMed1979

[Demonstration by iron overloading study and HLA genotyping of recessive transmission of idiopathic haemochromatosis in two pseudodominant pedigrees (author's transl)].

We studied iron overloading and HLA genotype in two families with overt forms of idiopathic haemochromatosis in two successive generations. In each family the spouse of the patient with overt haemochromatosis in the first generation had clinical and laboratory signs of moderate iron overload and a HLA haplotype A3, B14 and A3, B7 respectively--which is frequently associated with the haemochromatosis gene. This specific HLA haplotype had been transmitted to the second generation patient with overt disease, which thus could be considered as having received a haemochromatosis gene from each parent. Although the finding of cases of overt disease in successive generation firstly suggests a dominant transmission the genetical analysis of these families lead to further strong argument in favour of recessive inheritance of idiopathic haemochromatosis.

Adolescent↗
PubMed1979

HLA determinants in idiopathic hemochromatosis.

HLA-A and B antigens were defined in 154 unrelated idiopathic hemochromatosis patients. The study confirmed the highly significant positive association with HLA antigens A3 (corrected P less than 10(-10)) and B14 (corrected P less than 10(-9)). HLA-DR typing showed increased frequency of the specificity DRw6, which was frequently associated with the phenotype A3, B14 and antigen B14, suggesting linkage disequilibrium. This was borne out by PLT data.

Epitopes↗
PubMed1979

[Bone histomorphometry and osteo-articular manifestations of idiopathic hemochromatosis].

An histomorphometric study of the bones was done on 28 patients suffering from an idiopathic hemochromatosis. There was a normocalcinemic hyperparathyroidism in half the cases. It appeared to be closely linked to hypersideremia and to be responsible for the sub-chondral arthropathy. The other lesions demonstrated were an osteoporous one, whose relations with hypogonadism was shown, and osteoidosis variations, which most often decreased rather than increased, and whose causes still seem uncertain.

Adult↗
PubMed1978

Hypovitaminemia A in idiopathic hemochromatosis and hepatic cirrhosis. Role of retinol-binding protein and zinc.

Serum levels of vitamin A, its specific carrier protein retinol-binding protein (RBP), and zinc were determined in 34 cases of idiopathic hemochromatosis, 33 cases of alcoholic cirrhosis, 10 cases of non-alcoholic cirrhosis, and in 35 normal controls. In both alcoholic and non-alcoholic cirrhosis, vitamin A and RBP levels were very significantly reduced, whereas a significantly low zinc was observed only in the alcoholic cirrhosis group. In idiopathic hemochromatosis, vitamin A values were significantly lower compared to normals, whereas serum RBP levels were normal and serum zinc was very close to that of the controls. A significant correlation was found between vitamin A and RBP levels in the entire group of 112 patients. These results, (1) in alcoholic and non-alcoholic cirrhosis, confirm a dramatic vitamin A deficiency and the major role played by decreased RBP, but tend to deemphasize the possible role of zinc deficiency; (2) in idiopathic hemochromatosis, affirm a significant serum vitamin A deficiency supposedly by a different mechanism from that of alcoholic cirrhosis since in idiopathic hemochromatosis plasma RBP levels are normal. The role of this vitamin A disorder should be considered in the interpretation of clinical signs of idiopathic hemochromatosis such as ichthyosis and visual disorders.

Adult↗