PubMed Health⌕ Search

Biomedical subjects

R Cotumaccio

Publications and source records attributed to R Cotumaccio.

9 recordsLinked to original sources
PubMed1984

Different forms of AT-III congenital defect: a study by crossed immunoelectrofocusing.

Antithrombin III (AT-III) deficiency may be due to quantitative or qualitative AT-III reduction. The diagnosis of qualitative disorder is suspected when a discrepancy is found between immunological and functional levels of AT-III. Heterogeneity has been hypothesized in both quantitative and qualitative deficiency of AT-III. A technique based on crossed immunoelectrofocusing (CIEF) was applied to investigate molecular variants of AT-III. 3 families with low functional and immunological levels of AT-III and 1 family with only a low functional AT-III level were investigated. An abnormal AT-III pattern was found with CIEF in the family with suspected qualitative disorder and in 1 of the families with quantitative disorder. The 2 abnormal patterns were different. Thus the use of CIEF AT-III patterns could help to define congenital AT-III deficiencies and could serve as a basis for classification of different forms of AT-III deficiency.

Adult↗
PubMed1983

Human antithrombin III heterogeneity: a study by isoelectrofocusing and crossed immunoelectrofocusing.

Isoelectrofocusing was carried out in the LKB Multiphor apparatus with pH 4-6.5 carrier ampholines using polyacrylamide gel slabs. Specimens of purified antithrombin III (AT-III), normal plasma and serum were isoelectrofocused. Microheterogeneity was shown by three preparations of purified AT; the protein was separated in at least six bands, three large bands were located in the pH range 4.9-5.2, one intermediate band at pH 4.85, other thinner bands were located in the pH range 4.55-4.80. The microheterogeneity of AT-III was confirmed in purified preparations as well as in plasma and in serum by crossed immunoelectrofocusing. The pattern of purified preparations, normal plasma and serum were very similar; only minor, quantitative differences were noticed. Plasma from a patient with congenital AT-III deficiency showed an abnormal pattern.

Antithrombin III↗
PubMed1982

Alpha-1-antitrypsin (alpha 1AT) phenotypes and PiM subtypes in Italy. Evidence of considerable geographic variability.

Genetic typing of alpha 1AT was performed in 3751 individuals from Italian towns. The following was observed: (a) The pathologic phenotypes (SZ, MZ, ZZ) appeared to decrease progressively from northern to southern Italy; (b) the distribution of the PiM suballeles showed considerable geographic variability, but the suballele M2 was more frequently encountered in southern Italy; and (c) in the large cities of southern Italy, the frequency of the deficiency more closely resembled that found in northern Italy than that of the remaining populations of the south.

Electrophoresis, Polyacrylamide Gel↗
PubMed1982

PiM subtypes in bronchiolitis.

Decreased alpha-1-antitrypsin (alpha 1AT) levels have been observed in children affected by bronchiolitis; however, variant alleles Pi (S, Z) which are usually associated with reduction of the inhibitor do not show a higher incidence in children affected by this disease. Subtypes M2 and M3 of alpha 1AT have recently been considered to play a role in the development of allergic states in children as well as in chronic obstructive lung disease in adults. In the present study we have investigated the incidence of PiM subtypes in 98 children affected by bronchiolitis. No greater incidence of subtypes M2 and M3 was observed in these children than in controls. These results rule out the hypothesis of a pathogenetic role of M subtypes in the development of bronchiolitis in children.

Alleles↗