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Biomedical subjects

L Pagano

Publications and source records attributed to L Pagano.

At least 127 records · Page 7Linked to original sources
PubMed1985

Protein fingerprint by fast atom bombardment mass spectrometry: characterization of normal and variant human haemoglobins.

A procedure using fast atom bombardment mass spectrometry was developed for mapping the proteolytic digest of proteins. The procedure was successfully applied to the tryptic peptides of the human beta-globin chain. Almost all the expected peptides were identified by direct analysis of the peptide mixture on the mass spectrometer. Peptide recognition along the beta-globin chain sequence was easily made on the basis of their molecular weight. The general applicability of this mapping procedure in the analysis of haemoglobinopathies was demonstrated by its use for the structural characterization of a variant beta-globin chain.

Amino Acid Sequence↗
PubMed1985

Serum beta 2-microglobulin in systemic sclerosis.

The role of beta 2 microglobulin (beta 2-m) in Systemic Sclerosis (SS) has been evaluated. Twenty-four female patients have been examined: 15 of them were affected by acrosclerosis (Group 1) and 9 of them by diffuse sclerosis (Group 2). 46.6% of Group 1 and 44.4% of Group 2 had values significantly higher than normal controls. (P less than 0.01 and P less than 0.005 respectively). The authors deal with the validity of the use of B2-m as index of inflammatory activity of the disease.

Adult↗
PubMed1983

Evaluation of some coagulation parameters in cerebral ischemia.

In order to investigate some aspects of blood coagulation and of platelet function in cerebral ischemia, 18 healthy subjects, 24 patients with previous cerebral infarction and 12 patients with transient ischemic attacks were studied. All patients were in a non-active state of the illness. In all subjects, platelet count, prothrombin time, activated partial thromboplastin time and determination of the fibrinogen concentration were performed as routine. All subjects were tested for platelet adhesiveness, circulating platelet aggregates, factor VIII coagulant (VIII C), factor VIII-related von Willebrand factor (VII RWF), factor VIII-related antigen (VII RAg), antithrombin III (AT III) concentration and activity and euglobulin clot lysis time. No significant difference between patients and controls was found in routine tests, platelet function, AT III concentration or activity. Plasma levels of VIII C, VIII RWF, VIII RAg were significantly increased in both patient groups. The VIII RAg/VIII C ratio was significantly increased only in patients with previous cerebral infarction. Euglobulin clot lysis time was significantly increased in both patient groups.

Adult↗
PubMed1983

Antithrombin III and factor Xa inhibitor in atherosclerosis.

75 patients with atherosclerosis divided into five disease groups (previous myocardial infarction and cerebral thrombosis, angina pectoris, transient ischemic attacks, arteriosclerosis obliterans) were studied and compared to 20 healthy subjects. Antithrombin III (AT III) concentration was determined by single radial immunodiffusion; AT III and factor Xa-inhibitor (Xa-I) activities were measured by amidolytic methods. No significant difference was found in any group of patients as compared to normal controls by all the methods. A positive correlation was found between AT III concentration and AT III activity, AT III concentration and Xa-I activity, AT III activity and Xa-I activity. Results are discussed in relation to the literature data.

Adult↗
PubMed1983

Clinical features of monosomy 10qter.

The authors report a 10qter deletion in a 16-month-old boy. The patient's phenotype includes: low birth weight, mental and growth retardation, triangular facies, hypertelorism, prominent nasal bridge, malformed and low set ears, cryptorchidism. The karyotype was 46,XY,del(10)(q26.1 leads to qter). Cytogenetic analysis of both parents, including a search for the fragile site in the 10q25 region, were normal. The assignment of the human GOT structural gene to the 10q25.3 band is suggested.

Abnormalities, Multiple↗
PubMed1982

[The factor VIII complex in atherosclerosis].

In order to investigate the factor VIII complex trend in atherosclerosis, 96 patients suffering from atherosclerosis, divided in 6 groups (angina pectoris, previous myocardial infarction, transient ischemic attacks, previous cerebral thrombosis, diabetes without symptoms of vascular injury and diabetes with vascular complications), were studied and compared to a control group of normal subjects. Plasma levels of Factor VII Coagulant (VIII C), Factor VIII-Related von Willebrand Factor (VIII-RWF) and Factor VIII-related Antigen (VIII ARg) were measured in all subjects. A significant rise of VIII RAg was noticed in all groups of patients as compared to the control group: this increase appears to be related to the severity of vascular injury. A significant rise of VIII RWF, parallel to the VIII RAg increase, was also noticed in all groups. Besides, all groups of patients showed a significant and uniform increase of VIII C. The average ratio of VIII RAg/VIII C was raised in all groups, except diabetics without complications; but the increase was statistically significant only in those patients with a heavier vascular injury which is related to the marked rise of VIII RAg in such clinical situations. The findings of this study are discussed in relation to the literature data. The significance of the determination of VIII RAg/VIII C ratio and of the VIII RAg assay as methods for monitoring the severity of the vascular injury in atherosclerosis are also discussed.

Adult↗
PubMed1981

[XXXXY syndrome: clinical-radiological findings in one patient (author's transl)].

A case of XXXXY syndrome in a 15 year old male is reported. Clinical findings (mental retardation, muscular hypotonia, hypogonadism, characteristic facies), chromosome analyses as well as fingerprint ridge counts were typical of the syndrome. Several radiological abnormalities were found. It is noteworthy that features consistent with epiphysial dysplasia were present. In the patient's kindred a case of "cri du chat" syndrome and a 5:9 balanced translocation were discovered.

Abnormalities, Multiple↗
PubMed1980

A and B postaxial polydactyly in two members of the same family.

Two cases of previously unreported simultaneous presence of A and B postaxial polydactyly in two brothers out of 12 affected members of a kindred are reported. The findings are consistent with the hypothesis that in this family A and b types of postaxial polydactyly are caused by a single gene rather than by two different genes.

Adult↗
PubMed1980

Hereditary 3;6 translocation : three cases of multiple malformations with partial trisomy 6p21 leads to pter.

The authors report on a family with a t(3;6). All four members of a sibship were carriers of the balanced translocation and two have had children with multiple malformations. The proband, six months old, had the karyotype 46,XY, t(3;6) (p26;p21) der pat. His clinical features were typical of the trisomy 6p syndrome. HLA typing data failed demonstrate both paternal haplotypes in the propositus.

Abnormalities, Multiple↗
PubMed1980

Familial translocation 2;17 with partial trisomy 2q32 leads to 2qter.

A case of 2q trisomy in a malformed female infant resulting from unbalanced segregation of maternal origin is reported. The mother and one of the proposita's sibs where found to be carriers of balanced translocation 2;17. Two other members in the kindred had died with multiple malformations. The patient's karyotype was 46,XX,-17, + der (17)t(2;17)(q32;q25)mat.

Chromosome Aberrations↗