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Biomedical subjects

A Orsini

Publications and source records attributed to A Orsini.

At least 55 records · Page 3Linked to original sources
PubMed1984

Hb Marseille [alpha 2 beta 2 N methionyl-2 (NA2) His----Pro]: a new beta chain variant having an extended N-terminus.

A new abnormal hemoglobin was found in a diabetic Maltese woman by citrate agar electrophoresis. This variant was undetectable by isoelectric focusing. No hematological abnormalities were observed. The structural analysis included isolation of the abnormal beta chain, high pressure liquid chromatography of the corresponding tryptic peptides and then microsequencing of the abnormal T1. These procedures revealed a double abnormality: the presence of a methionyl residue extending the NH2 terminus and a histidine to proline substitution in position NA2.

Amino Acid Sequence↗
PubMed1984

Residual reading capability in a patient with alexia without agraphia.

A case of pure alexia due to an ischemic lesion of the occipital temporal region is described. Written words could be matched but not read. Immediate memory span for graphemes was defective. The reading defect probably depends on the inability to modify the written word "globally"; the phonological process was intact, but the memory disturbance impeded reading. The dissociation is explained by the preservation of word forms, which are linked to the semantic stage. Non-written stimuli trigger a "meaning" which evokes the word form and so the written word is recognized even though it cannot be read.

Agnosia↗
PubMed1984

Outcomes on lithium treatment as a tool for genetic studies in affective disorders.

From a genetic point of view, the application of mathematical models to affective disorders has not yet been useful, since they do not indicate a specific mode of transmission. To use these models correctly, we need to identify homogeneous genetic subgroups among those sharing the common phenotypic feature of affective illness. Our useful criterion for this is outcome on long-term lithium therapy, since experimental data suggest the existence of a close relationship between the genetic mechanisms that underly the affective disorders and those that underly outcome on lithium. We have studied 145 subjects with primary affective disorders, 92 of whom did not relapse during lithium treatment and 53 of whom did, together with 864 of their first-degree relatives. The data for both groups fit both single major locus and multifactorial polygenic models for genetic analysis, including a sex effect and therefore neither mode of transmission can be excluded.

Age Factors↗
PubMed1984

The search for genetic homogeneity in affective disorders.

In the present study we tested the fit of the Single Major Locus (SML) hypothesis, using segregation analysis for single families of affective probands treated with lithium salts, with second degree relatives included. We tested the segregation pattern for every family with two different sets of parameters: one dominant for a group that did not relapse on lithium treatment and one recessive for a group that did. We calculated the likelihood ratios for each family. The results of this study partially confirm the importance of outcome on lithium treatment in susceptibility to affective disorders. However, application of segregation analysis suggested that there is genetic heterogeneity that cannot be completely detected when using only the simple pharmacological criterion of outcome on lithium.

Bipolar Disorder↗
PubMed1983

[Hemoglobinopathies and arterial pathology].

Mutation of the hemoglobin molecule which characterises sickle cell anemia causes the falciformation under conditions of slow oxygen pressure, an increase in blood viscosity and premature destruction of the red blood cells. The vascular disorders, which are of variable nature, intensity and gravity, influence to a great extent the disabling character of the disease. Vaso occlusive crises are often associated with intercurrent infection. The retinopathy (well demonstrated by fluorescein angiography) is the most typical arteriolar disorder. In homozygotic patients, stenosis of the proximal portions of the large arteries leads to cerebrovascular complications, probably related to microcirculatory defects, responsible for variable clinical problems and some Moya-moya syndromes of childhood. From the therapeutic point of view, early treatment (transfusion and rehydration) allows regression without sequelae. Prevention is based on patient education to avoid triggering factors and a number of investigations, none of which has yet provided an absolute solution.

Anemia, Sickle Cell↗
PubMed1982

Sex differences in a children's spatial serial-learning task.

Boys (n = 80) and girls (n = 80) aged 9 to 10 completed a spatial-span test and a spatial serial-learning task. Corsi's block-tapping test was used for both. Sex differences were found on each: males performed better in both cases. The better performance of males on the spatial serial-learning task was independent of their superiority in the spatial-span test.

Child↗
PubMed1981

Sex and cultural differences in children's spatial and verbal memory span.

Spatial span (Corsi's block-tapping) and verbal span (Wechsler Digits Forward) were measured in 1113 children aged 4 to 10 yr. from urban and rural districts of the Regione Campania. Significant differences pointing to a better performance of the "town" group were found on both tests. Sex differences were found only on the spatial span test; boys performed better than girls.

Child↗
PubMed1980

Sex differences in adults' spatial and verbal memory span.

Spatial span (Corsi's block-tapping test) and verbal span (Wechsler Digits Forward test) were measured in 300 medical students (150 males and 150 females). Significant differences pointing to a better performance of males were found on both spatial span (p less than 0.001) and verbal span (p less than 0.05).

Adult↗
PubMed1980

Fibrinogen Marseille. A new case of congenital dysfibrinogenaemia.

A new case of congenital dysfibrinogenaemia was found in 2 members of the same family. The anomaly was characterized by an abnormal polymerization of fibrin monomers, whereas the release of fibrinopeptides by thrombin and fibrin stabilization by F XIII were normal. Investigation of the fibrinogen molecule did not lead to localizing the structural abnormality.

Adult↗