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Biomedical subjects

H Brecy

Publications and source records attributed to H Brecy.

8 recordsLinked to original sources
PubMed1978

[The molecular expression of C1 esterase inhibitor in hereditary angioneurotic oedema. Study of 32 families (author's transl)].

Seventy seven patients from 32 families suffereing from angioneurotic oedema were studied and a single theory of the disorder is suggested. The functional abnormality of alpha2 neuraminoglycoprotein (NGP) or of C1 esterase inhibitor is related involvement of the structure gene (s) controlling its synthesis. Particular immunochemical characteristics of the inhibitor seen in severals families and remaining constant through a number of generations would indicate the existence of a phenomenon of functional haploidism in these heterozygous patients. Treatment of the condition with androgens suggests the existence of two varieties of alpha2 NGP molecules which are differentiated on the basis of their complete or incomplete glycoconjugation in the hepatocyte.

Androgens↗
PubMed1978

The gene(s) controlling the synthesis of C1 esterase inhibitor is not linked to the genes of the HLA system and is not on the 6th chromosome.

Certain genes of the complement system are carried by the 6th chromosome and are sometimes linked to particular genes of the HLA system. This study shows that in 15 patients suffering from hereditary angioneurotic oedema the gene(s) controlling the synthesis of C1 esterase inhibitor is not linked to the genes HLA-A or B and is not on the 6th chromosome.

Angioedema↗
PubMed1977

[Abdominal manifestations in hereditary acute angioneurotic oedema. Value of study of the complement system (author's transl)].

Four individuals of the same family suffered from a functional deficiency in C1 esterase inhibitor. In three of them, the manifestations of hereditary angioneurotic oedema were abdominal, paroxystic and pseudo-surgical. They were related to the development of visceral or mucosal oedema. The measurement of total complement (and of its fractions) during the acute episode, as well as dynamic complement studies between attacks, represent a simple method for indicating the probable diagnosis. Only estimation of the functional activity of C1 esterase inhibitor provides definite evidence. Familiarity with the clinical and biological characteristics of these acute abdominal episodes makes it possible to avoid repeated, unnecessary operations in these patients. They should be treated medically, under surgical surveillance, since a patient with angioneurotic oedema may have nevertheless a specific lesion, in addition. In addition, the episode may spread at any time, resulting in oedema of the glottis requiring tracheotomy or immediate intubation.

Abdomen, Acute↗
PubMed1977

An investigation of the complement system in patients with periodic disease (results from 29 cases).

The complement system was investigated in 29 patients suffering from authentic periodic disease. A statistically significant increase in C4, also in total complement and C3 could be demonstrated. It is possible that the increase in C4 was due to the macrophages which are always present in the infiltrates of periodic disease. This biological observation is of clear practical importance for the diagnosis of the condition both before and after colchicine therapy.

Complement C1 Inactivator Proteins↗
PubMed1976

[Abdominal manifestations of hereditary angioneurotic edema. Importance of the exploration of the complement system (apropos of 29 families)].

Abdominal manifestations are almost constantly present (85% of cases) in the current form of hereditary Quincke's disease. In some cases, these abdominal manifestations occur even when cutaneomucosal edema is not present which leads to unwarranted often repeated and sometimes dangerous surgery. Apart from a story of heredity diagnosis of such troubles is possible, provided the total complement has been assayed to note its sharp fall. It can be subsequently explained by a functional defect of the C1 esterase inhibitor or alpha2-neuraminoglycoprotein.

Adolescent↗
PubMed1975

Distinction between hereditary and acquired angioneurotic oedema according to the complement system.

It is often impossible to make a clinical distinction between acquired and hereditary acute angioneurotic oedema. Investigation of the complement system is indispensable for this diagnosis to be established. The value of total complement and C4 and C2 are lowered in the sera in the hereditary form (44 cases) and normal in the acquired type (68 cases). The use of tests for the activation of C1 esterase "in vitro" is useful to distinguish these two types of oedema as has been demonstrated by the formal measurement of C1 esterase inhibitor.

Angioedema↗