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Biomedical subjects

M Orlando

Publications and source records attributed to M Orlando.

At least 55 records · Page 3Linked to original sources
PubMed1985

Intragenic Factor IX restriction site polymorphism in hemophilia B variants.

This study includes 47 normal subjects and 25 hemophilia B patients without inhibitor(s), showing different factor IX coagulant activity and antigen levels. Genomic DNA, digested with various restriction endonucleases, was hybridized with two different factor IX probes, ie, the cDNA and the subgenomic probe for the intragenic TaqI polymorphic site. cDNA restriction patterns suggest absence of gross rearrangements and/or deletions in all hemophilic patients. The frequency of the X chromosome bearing the TaqI polymorphic site is 0.32 +/- 0.09 in hemophilic subjects v 0.36 +/- 0.06 in normal control subjects, the latter value being comparable to that reported for the normal British population. No association between this polymorphism and hemophilia B variants has been observed, thus indicating that a wide spectrum of mutations underlies this blood-clotting disorder and particularly each of its variants.

Cloning, Molecular↗
PubMed1984

Hereditary factor VII deficiency: report of a case of intracranial hemorrhage.

A case of factor VII deficiency in a 52-year-old woman who developed central nervous system hemorrhage is here reported. Screening coagulation tests were all normal except for prothrombin time, normotest and thrombotest. Specific assays of vitamin K-dependent factors revealed that factor VII activity was reduced (11 U/dl). The studies of the family demonstrated that 2 sisters out of 4 were heterozygous for the defect. The activity of factor VII in the offspring, classified as obligatory carriers, ranged between 62 and 78 U/dl, the antigen between 55 and 75 U/dl. The wide variability of factor VII in normal people and the possible compensative effect of normal alleles in carriers do not allow to define the variant, namely if the patient is a CRMR homozygote or a CRMR/CRM-double heterozygote.

Antigens↗
PubMed1982

An abnormal inherited fibrinogen (fibrinogen Genova) with delayed fibrin aggregation.

A new autosomally inherited dysfibrinogenaemia was recognized in 3 members of an Italian family. No bleeding tendency or thrombotic disease in any of the affected members were demonstrated. Coagulation tests revealed prolonged prothrombin, thrombin and Reptilase times. Plasma fibrinogen levels were normal with immunologic method and slightly reduced with chronometric assay: the other blood coagulation factors were normal. In addition, cross-immunoelectrophoresis performed on patients' plasma was indistinguishable from the normal. Dysfibrinogenaemia was confirmed by studying the purified fibrinogen. The fibrin polymerization curve, measured spectrophotometrically, showed a lower slope than the normal. A delay in fibrin monomer aggregation was revealed when compared to the normal at an equal concentration. The release of fibrinopeptides was normal. SDS polyacrylamide gel electrophoresis, isoelectric focusing and cross-immunoelectrophoresis of purified fibrinogen were not able to demonstrate any structural abnormality. The fibrinogen was named fibrinogen Genova.

Blood Coagulation Disorders↗
PubMed1982

Factor VII in liver cirrhosis.

Factor VII activity and factor VII cross-reacting material (CRM) in plasma of patients with liver cirrhosis have been studied before and after vitamin K1 parenteral administration. Subjects were divided into two groups according to the absence (group I) or the presence (group II) of the following clinical findings: ascites, portal hypertension, encephalopathy. Factor VII activity and CRM show a statistically significant correlation (p less than 0.001) in all patients. In group II, significantly reduced levels of both activity and CRM were found as compared to the reference and the group I values. No variations were found after vitamin K administration. Different thromboplastins, investigated with respect to their sensitivity for factor VII, acted differently. Patients with normal albumin levels also showed normal levels of factor VII activity and antigen. No correlation was found in group II. The data discussed suggest that in liver cirrhosis with unknown aetiology no immunologically detectable precursor of factor VII is present.

Adult↗
PubMed1982

[Determination of plasma catecholamine. Effects of glucagon administration].

Basal plasma dopamine (DA), Norépinephrine (NE) and Epinephrine (E) were determined in controls (n = 15) essential hypertension (n = 19) and Pheochromocytoma (n = 9). Plasma NE was significantly higher in essential hypertension than in control and in 5 cases, plasma NE or E was 3 SD above mean control values. In 8/9 pheochromocytomas DA, E or NE were significantly elevated. In 1 case, catecholamine levels were within normal range during normotensive period. When a provocative glucagon test (1 mg I.V) was performed in controls, there was no change in blood pressure DA and NE levels, but a significant increase in plasma E 2.5 and 5 min. after injection. Similar results were obtained in 8/10 cases of labile hypertension. However in 2 cases plasma NE or E increased significantly without elevation in blood pressure. In 3/4 pheochromocytomas under normotensive phase, blood pressure and plasma catecholamines increased significantly; however in 1 case, no change was observed.

Adrenal Gland Neoplasms↗
PubMed1981

Structural or functional heterogeneity of normal human serum albumin, allo albumin, bisalbumin.

The present paper reports a comparative isoelectric focusing study of electrophoretically normal and abnormal albumins. All the albumins were purified by two different techniques (cellulose acetate electrophoresis and preparative slab isoelectric focusing), and submitted to analytical isoelectric focusing before and after incubation with either metabolites or drugs. Isoelectric focusing patterns show general heterogeneity, both in normal and in any of the observed alloalbumins. The heterogeneity is increased in bisalbumins (drug or metabolite induced), showing the same electrophoretic pattern as alloalbumins. The differences are related to the amount of the ligands. The results agree with the hypothesis that the heterogeneity depends on the structure and the carrier function of albumin.

Albumins↗
PubMed1981

Factor VII deficiency: immunological characterization of genetic variants and detection of carriers.

Twenty-one patients with congenital factor VII deficiency belonging to 16 different kindreds were investigated. The existence of three immunochemical variants on the ground of factor VII activity (VII:C) and factor VII-related antigen (VII:Ag) levels (VII-, VII+ and VIIR) was established. There was no correlation between the presence of factor VII:Ag and either the clinical picture or the specific function as studied with the Km calculations. Genetically the model of inheritance is the same whatever the immunological variant, but the identification of carriers is simplified when the presence of factor VII-related antigen is assayed throughout a kindred.

Antigens↗
PubMed1981

Effect of neonatal treatment with monosodium glutamate on the secretion of alpha-MSH, beta-endorphin and ACTH in the rat.

Plasma alpha-MSH, beta-endorphin and ACTH were measured at 60 days of age in rats which had been injected during the neonatal period with monosodium glutamate (MSG). Although the arcuate nucleus tuberoinfundibular dopaminergic and cholinergic system was lesioned by the MSG, no change in circulating alpha-MSH, ACTH and corticosterone levels was observed under basal conditions, after ether stress of adrenalectomy. In contrast, a moderate, but significant decrease in plasma beta-endorphin was noticed after MSG treatment.

Adrenalectomy↗
PubMed1980

Factor VII activity and antigen in haemophilia B variants.

Twenty three patients belonging to 18 different pedigrees of Haemophilia B were studied with regard to ox-brain prothrombin time and its correlation to factor VII. Eleven among them were B-negative (no detectable factor IX antigen), five were B-reduced (factor IX antigen detectable but below the normal values) and seven were B-positive (normal levels of factor IX antigen). Ox-brain prothrombin time was found prolonged (greater than or equal to mean + 2.5 SD:99% confidence limits) in nine patients. Factor VII Activity (VII:C) was found reduced in 1/11 B-negative, in 2/5 B-reduced and in 4/7 B-positive patients. Factor VII Antigen (VII:Ag) was found normal in all but one patient. The ratio VII:C/VII:Ag was abnormal in eight patients independently from the variant of Haemophilia B. The underlying defect which causes the prolongation of Ox-brain prothrombin time due to factor VII:C mild deficiency is heterogeneous. Age, a mild Vitamin K deficiency, the presence of an inhibitor of Factor VII activation and other unknown causes, may be responsible for this pattern.

Adult↗
PubMed1980

Isoenzyme variants of nonspecific esterases in chronic myelocytic leukemia and in blastic crisis.

The isoenzymes of nonspecific esterases have been examined with polyacrylamide gel electrophoresis in 10 patients with chronic myelocytic leukemia (CML) and 10 with blastic crisis (BC) in respect to normal subjects. In patients with active CML the recurrent loss of fast bands was detected, while in patients in remission the isoenzyme variants are similar to those found in normal subjects. Different isoenzyme variants which are similar to those found in acute leukemia were detected in patients with BC of differenct morphological type with the exception of BC of megakaryoblastic type. The possible meaning of such variants in relation to an early identification of malignant proliferating clones, is discussed.

Esterases↗
PubMed1975

Pulmonary mucormycosis caused by Cunninghamella elegans in a patient with chronic myelogenous leukemia.

Cunninghamella elegans was cultured from autopsy materials of the infected lung of a patient with chronic myelogenous leukemia. The histologic sections revealed extensive growth of nonseptate, broad hyphae in and about the large and small arteries and veins, occluding the vessels. This case is believed to be the second in which human infection by C. elegans has been documented.

Fungi↗