Biomedical subjects
M Gasperini
Publications and source records attributed to M Gasperini.
Spontaneous compactification with antisymmetric tensor and scalar fields.
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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.
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.
Analytic considerations about distribution of age of onset in schizophrenia.
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Possible relationship between outcome in primary affective disorders treated with lithium and family history.
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Is urinary MHPG a real predictor of drug response in primary depression?
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Genetic implications in assortative mating of affective disorders.
Psychiatric disorders in a sample of spouses of probands with recurrent Primary Affective Disorders (PAD) and in their first degree relatives were evaluated and compared with those in the spouse of control subjects without psychiatric illnesses. No differences were found in the risk for PAD, but spouses of PAD patients and their respective first degree relatives manifested a greater incidence of affective spectrum disorders.
Personality features related to generalized anxiety disorder.
Forty-six patients with generalized anxiety disorder (GAD) without any other coexisting axis I diagnoses were compared with 50 control subjects for assessment on axis II. No specific personality disorder (PD) was found to be significantly associated with chronic anxiety, although the majority of anxious patients showed significantly more maladaptative traits than controls. Discriminant analysis selected a list of items able to provide a correct classification rate of 91% based on personality features selected in canonical function. Factor analysis indicated that personality characteristics of expectation of damage were more closely related to GAD in our sample.
The nature of depression in borderline depressed patients.
The symptomatology of 15 borderline (BDL) depressed and 45 non-BDL depressed consecutive inpatients was assessed using the Hamilton depression scale (HAM-D) and the 90-item Symptoms Checklist (SCL-90) self-rating questionnaire. No significant differences were found in the total scorings of the two instruments in the two groups of patients. However, while non-BDL depressive rated significantly higher in items related to melancholic forms of depression, BDL depressives showed less specific symptoms, and the persistence, or possibly the magnification, of their maladaptive personologic structure. Two discriminant analyses, performed on the ratings at the HAM-D and SCL-90 of the two groups of patients, suggested that although the total degree of severity may be the same, the depressive episodes of BDL patients are qualitatively different from those of patients with less maladaptive personologic traits.
Factors affecting the distribution of age at onset in patients with affective disorders.
We analyzed the age-at-onset distributions in a group of 285 patients diagnosed as having major affective disorder, recurrent, either unipolar or bipolar, in order to detect the possible existence of genetic and epidemiological factors affecting their age-at-onset distribution. In fact, since it is known that affective disorders are genetically heterogeneous with respect to the liability systems involved, methodological considerations support the hypothesis of the existence of different ages at onset also. We thus investigated several variables and the significant findings of our study were that bipolarity, at least one affected parent and a low position in the sibship are each associated with earlier age at onset of affective disease.
Genetic approach to the study of heterogeneity of affective disorders.
In the present paper we compared the results of the application of segregation analysis, under two different single major locus (SML) transmission hypotheses, a dominant one with sex effect and a recessive one, to the families of 202 probands with major depression, recurrent and bipolar disorder. In the first analysis we considered only secondary cases with major affective disorders (bipolar disorders and major depression, recurrent), in the second one we included as affected phenotypes also relatives with atypical depression, dysthymic and cyclothymic disorders. Results indicated that considering spectrum disorders greatly modified familial segregation patterns.
Clinical and demographic features of psychotic and nonpsychotic depression.
The present study evaluated clinical and demographic features of subjects with delusional versus nondelusional major depressive disorder. Two hundred eighty-eight subjects with mood disorder (bipolar disorder, n = 94; major depressive disorder, n = 194) were included in the study. No differences were observed for gender, polarity of mood disorder, age of onset, duration of index episode, number of episodes, number of previous hospital admissions, frequency of illness episodes, and number of suicide attempts. On the other hand, delusional subjects showed a higher rate of cluster A personality disorder and a lower level of education. We also detected a larger number of cluster B personality disorders among nondelusionals. Our data suggest that subjects with delusional mood disorder do not differ substantially from nondelusionals in terms of the clinical and demographic variables considered in this study except for personality disorders.
Familial concordance of fluvoxamine response as a tool for differentiating mood disorder pedigrees.
Concordance to antidepressant response in members of the same family is a common observation in clinical practice. However, few published data support this view; moreover families with affected members responder to the same antidepressant have been poorly studied. We have analyzed 45 pairs consisting of one mood disorder fluvoxamine double-responder proband and one first-degree relative with known outcome to fluvoxamine treatment. Among 45 pairs 30 (67%) were concordant for good response to fluvoxamine. In family pedigrees of concordant pairs we found a significantly higher distribution of bipolar forms in secondary cases than in families of non concordant pairs (14.9% vs 3.9% P = 0.039) suggesting that concordance to antidepressant therapy could select families with higher genetic loading.
Tryptophan hydroxylase gene and response to lithium prophylaxis in mood disorders.
Lithium is an effective prophylactic agent in mood disorders but not all patients with mood disorders respond to lithium therapy; it is therefore necessary to identify responders prior to treatment. Clinical predictors account for about half of the variance and it is probable that genetic factors play a substantial role. The aim of this study was to investigate the possible association between the tryptophan hydroxylase (TPH) gene and prophylactic efficacy of lithium in mood disorders. One hundred and eight subjects affected by bipolar (n = 90) and major depressive (n = 18) disorder were followed prospectively for an average of 50.4 months and were typed for their TPH variant using polymerase chain reaction techniques. TPH variants were marginally associated with lithium outcome (F = 3.16; d.f.=2,105; P = 0.046). Subjects with the TPH*A/A variant showed a trend toward a worse response compared to both TPH*A/C and TPH*C/C variants. Consideration of possible stratification effects such as gender, polarity or age at onset did not influence the observed association. TPH variants may be a possible factor influencing the prophylactic efficacy of lithium in mood disorders.
Raised maternal plasma alpha-fetoprotein and pregnancy outcome.
With the aim of evaluating the clinical value of raised maternal plasma alpha-fetoprotein (AFP) in women with singleton fetuses without structural abnormalities, the outcome of pregnancy was evaluated in a group of 20 women with these characteristics. Only 6 women (30%) delivered fetuses with appropriate birthweight at term; there were 6 pregnancy losses (30%), and the remaining pregnancies ended in pre-term delivery and/or birth of a small for gestational age fetus. Ultrasound examination supplied additional information in 3 cases only. Amniocentesis did not seem to affect pregnancy outcome in this group of high-risk pregnancies. Serial AFP testing was useless for monitoring these pregnancies. It is concluded that raised maternal plasma AFP must be regarded as a marker of poor pregnancy outcome even after exclusion of neural tube defects.
[Contact dermatitis from fabrics].
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