PubMed Health⌕ Search

Biomedical subjects

D Souery

Publications and source records attributed to D Souery.

At least 37 records · Page 2Linked to original sources
PubMed1999

Molecular interpretation of expanded RED products in bipolar disorder by CAG/CTG repeats located at chromosomes 17q and 18q.

Previously we provided evidence that the anticipation observed in bipolar (BP) disorder may be explained by expanded CAG/CTG triplet repeats. Data were generated with the repeat expansion detection (RED) method in a BP case-control sample showing a significant association of BP disorder with expanded CAG/CTG repeats (RED products of 120 bp). In this study we demonstrated that 86% of the RED expansions could be accounted for by the ERDA1 and CTG18.1 CAG/CTG repeats located respectively on chromosomes 17 and 18. Further, significantly different allele distributions were observed for ERDA1, with a larger proportion of BP patients (34.7%) carrying one or two expanded ERDA1 alleles (CAG/CTG repeats >40) than controls (19.2%) (P = 0.032). Also, a negative correlation was observed for ERDA1 between CAG/CTG length and age at onset in affected offspring of eight BP families. Although interesting, these data should be interpreted with caution since the ERDA1 association did not remain significant after correcting for multiple testing. Also, no linkage was observed between BP disorder and expanded ERDA1 alleles in the families.

Base Sequence↗
PubMed1999

Short-term and long-term treatment for bipolar patients: beyond the guidelines.

This clinical review considers the different symptomatic forms of bipolar disorders and the influence of the clinical subtype on treatment. Therapy is required both to manage the various types of acute episodes of mania or depression and to prevent recurrence. For the latter purpose, continuous long-term or even lifetime prophylaxis may be required, continuing on after control of the acute episode. In this context, the roles and potential side-effects of lithium, divalproex sodium and carbamazepine, alone and in combination, are summarized, along with the proper use of antipsychotic drugs. The selection of mood-stabilizing agent or drug combination depends on the clinical manifestations of bipolar disorder, family history and previous treatment history of the patient. Particular caution must be exercised in those with a history of antidepressant-induced switches; many such patients appear prone to course aggravation and even rapid-cycling and will often need combined mood-stabilizer combinations.

Antimanic Agents↗
PubMed1999

Social adjustment and self-esteem in remitted patients with mood disorders.

Mood disorders are characterized by manic and depressive episodes alternating with normal mood. While social function is heavily impaired during episodes of illness, there are conflicting opinions about inter-episode function. The present paper focuses on self-esteem and social adjustment in remitted mood disorders patients. Patients with mood disorders (99 bipolar and 86 major depressive subjects, in remission) were compared with a group of 100 control subjects. The self-esteem scale (SES) and the social adjustment scale (SAS) were used to measure self-esteem and social adjustment, respectively, in both groups of subjects. Patients with mood disorder exhibited worse social adjustment and lower self-esteem than control subjects. These results strongly confirm previous observations of poor inter-episode function in patients with mooddisorder.

Adult↗
PubMed1999

Treatment resistant depression: methodological overview and operational criteria.

A wide variety of definitions are used for Treatment Resistant Depression (TRD), considering various criteria and different concepts. Some of the key issues are: the diagnosis, the treatment adequacy in terms of dose and duration, the treatment response assessment and the number of failed therapeutic trials required. Systematic research has been characterizing the concept and criteria to define the different variables involved. Lack of consensus on these issues limits comparison across clinical trials and interpretation of treatment efficacy in the management of treatment resistant patients. Through reanalyzes of available data, we point out the limits of TRD definitions and propose conceptual and operational criteria for a collaborative research project on TRD. It appears that a number of variables commonly associated to treatment resistance are independent of patients characteristics and mainly refer to misdiagnosis and inadequate treatment. The proposed criteria are intended for therapeutic trials in TRD, combining the evaluation of treatment efficiency and the validation of the concept of TRD itself. Major depression with poor response to two adequate trials of different classes of antidepressants is proposed for an operational definition of TRD. Rationale for this definition is discussed in contrast to alternative definitions.

Antidepressive Agents↗
PubMed1999

Association between the dopamine D3 receptor gene locus (DRD3) and unipolar affective disorder.

Dopamine neurotransmission has been implicated in the pathophysiology of schizophrenia and, more recently, affective disorders. Among the dopamine receptors, D3 can be considered as particularly related to affective disorders due to its neuroanatomical localization in the limbic region of the brain and its relation to the serotoninergic activity of the CNS. The possible involvement of dopamine receptor D3 in unipolar (UP) major depression was investigated by a genetic association study of the D3 receptor gene locus (DRD3) on 36 UP patients and 38 ethnically matched controls. An allelic association of DRD3 (Bal I polymorphism) and UP illness was observed, with the Gly-9 allele (allele '2', 206/98 base-pairs long) being more frequent in patients than in controls (49% vs 29%, P < 0.02). The genotypes containing this allele (1-2 and 2-2) were found in 75% of patients vs 50% of controls (P < 0.03, odds ratio = 3.00, 95% CI = 1.12-8.05). The effect of the genotype remained significant (P < 0.02) after sex and family history were controlled by a multiple linear regression analysis. These results further support the hypothesis that dopaminergic mechanisms may be implicated in the pathogenesis of affective disorder. More specifically, the '2' allele of the dopamine receptor D3 gene seems to be associated with unipolar depression and can be considered as a 'phenotypic modifier' for major psychiatric disorders.

Adult↗
PubMed1999

[Reboxetine (Edronax)].

Reboxetine is a new antidepressant acting by selective inhibition of noradrenaline reuptake (NARI) at the synaptic cleft. The efficacy of reboxetine is similar to other antidepressants such as tricyclic and Selective Serotonin reuptake inhibitors once (SSRI). A faster onset of action (in a mean of 10 days) is suggested by preliminary studies. Reboxetine seems also to improve social adjustment of the treated depressed patients. Due to its selectivity, reboxetine presents a favourable safety profile. Treatment of depression will certainly benefit from this new compound. However, some issues need to be clarified such as the use of reboxetine in combination with other antidepressants.

Adrenergic Uptake Inhibitors↗
PubMed1998

Association between novelty-seeking and the dopamine D3 receptor gene in bipolar patients: a preliminary report.

Recent studies in healthy controls suggest an association between novelty-seeking (NS) and the dopamine D4 receptor (DRD4) gene. In this study, we further investigated the relationship between genes implicated in dopamine as well as serotonin neurotransmission and personality traits in bipolar (BP) disorder. Scores on the Tridimensional Personality Questionnaire were examined in 37 recovered Research Diagnostic Criteria-diagnosed BP patients genotyped for DRD3, DRD4, and serotonin 2A receptor (5HTR2a) polymorphisms. Carriers of DRD3 allele 1 showed significantly lower NS values compared to patients without this allele. Scores on NS and on harm-avoidance were not related to DRD4 or 5HTR2a polymorphisms. These preliminary results suggest a role for D3 receptor in NS expression in BP patients.

Adult↗
PubMed1998

Compliance and therapeutic issues in resistant depression.

It is generally accepted that as many as 30% of depressed patients fail to respond to treatment with standard antidepressive pharmacotherapy. Surveys have revealed that as many as 25% of depressed patients are given inappropriate treatment. Furthermore, several studies have shown that non-compliant patients can represent as many as 20% of resistant patients. If this is confirmed, the generally accepted rate of 30% of depressed patients defined as resistant to antidepressive pharmacotherapy could be overestimated. A comprehensive review of treatment aspects and patient characteristics in treatment-resistant depression has shown that the most important factors to consider are the use of elevated doses over long periods and treatment tolerance. The severity of the disease, comorbidity with Diagnostic and statistical manual of mental disorders Axis I and Axis II diagnoses and chronic disorders are among the key patient variables. However, all these parameters are also important for patient compliance in the treatment of depression. Therefore, the problem of compliance should be considered during all treatment phases in treatment-resistant patients, and strategies aimed at optimizing compliance may have important implications for the management of treatment-resistant depression.

Depressive Disorder↗
PubMed1998

European Collaborative Project on Affective Disorders: interactions between genetic and psychosocial vulnerability factors.

Despite strong evidence provided by genetic epidemiology of genetic involvement in the aetiology of bipolar and unipolar affective disorders, the exact nature of the predisposing gene(s) is still being investigated through linkage and association studies. The interaction of susceptibility genes and environmental factors in these diseases is also of fundamental importance and requires proper investigation. Interesting theories have recently been proposed examining the possible role of various chromosomal regions, candidate genes and mutations in affective disorders. Reliable multicentre-based methodology is currently being employed to examine these theories, with attention given to statistical analysis and the statistical power of the sample. The present article describes the European Collaborative Project on Affective Disorders (ECPAD) 'Interactions between genetic and psychosocial vulnerability factors', involving 15 European centres. A description is given of the association and family samples collected for the project and also the methodology used to analyse interactions in the gene-psychosocial environment. This material provides a powerful tool in the search for susceptibility genes in affective disorders and takes into account non-genetic aetiological factors.

Adolescent↗
PubMed1997

Expanded trinucleotide CAG repeats in families with bipolar affective disorder.

Clinical anticipation has been reported in bipolar affective disorder (BPAD). The hypothesis that expanded trinucleotide repeats are related to anticipation and transmission pattern in families with bipolar affective disorder is tested in this study. Eighty-seven two-generation pairs of patients recruited from 29 bipolar families were analyzed. The repeat expansion detection method was used to detect CAG repeat expansions between successive generations. Significant changes in age at onset and episode frequency in successive generations were observed. Mean trinucleotide CAG repeat length between parental and offspring generation significantly increased when the phenotype increased in severity, i.e., changed from major depression, single episode or unipolar recurrent depression to BPAD. A parent-of-origin effect was also observed with a significant increase in median length CAG between G1 and G2 with maternal inheritance. This increase was observed notably in female offspring. Our findings indicate for the first time that expansion of CAG repeat length could explain the clinical observation of anticipation in families with BPAD. These results provide further support for expanded trinucleotide repeat sequences as risk factors in major affective disorders.

Adult↗
PubMed1997

No association between bipolar affective disorder and a serotonin receptor (5-HT2A) polymorphism.

The serotonergic system is implicated in the pathogenesis of affective disorders. In particular, the role of the postsynaptic 5-hydroxytryptamine (serotonin) type 2 receptor (5-HT2) has been documented by several studies. The 5-HT2A receptor gene located on chromosome 13 (13q14-21) can be considered a candidate gene for bipolar affective disorder (BPAD). We tested association between a 5-HT2A receptor DNA variant and BPAD using a case-control design. Eighty-three BPAD patients and 129 unrelated normal controls, carefully matched for sex and geographical origin, were studied. Allele and genotype frequencies as well as homo-heterozygote distribution at the 5-HT2A receptor polymorphism were compared between the two groups. No significant allelic or genotypic associations were observed. There was no significant difference for homo-heterozygote distribution between the two groups. These preliminary results may indicate that in our sample the 5-HT2 receptor polymorphism studied is unlikely to play a role in the genetic susceptibility to BPAD.

Adult↗
PubMed1996

Association study of bipolar disorder with candidate genes involved in catecholamine neurotransmission: DRD2, DRD3, DAT1, and TH genes.

Despite strong evidence for genetic involvement in the etiology of affective disorders (from twin adoption and family studies), linkage and association methodologies are still exploring the nature of genetic factors in these diseases. Interesting testable hypotheses have been described, including candidate genes involved in catecholamine neurotransmission. We studied 69 bipolar patients and 69 matched controls (for age, sex, and geographical origin) for association and linkage disequilibrium with DNA markers at the following genes: the tyrosine hydroxylase gene, dopamine transporter gene, and dopamine D2 and D3 receptor genes. Association and linkage disequilibrium were excluded between bipolar affective disorder and these four candidate genes in our sample.

Adult↗
PubMed1996

Linkage analysis of families with bipolar illness and chromosome 18 markers.

Linkage of bipolar (BP) illness with chromosome 18 markers located at 18p11 was recently reported. A possible role for chromosome 18 in the etiology of BP illness was implicated previously by the finding in three unrelated patients of a ring chromosome with breakpoints and deleted segments at 18pter-p11 and 18q23-qter. To test the potential importance of a gene defect on chromosome 18 in our material, we examined linkage with chromosome 18 markers in two families with multiple patients with BP illness or BP spectrum disorders. fourteen simple tandem repeat polymorphisms were used located in the chromosomal region 18p11 to 18q23 and separated by distances of approximately 10 cM on the genetic map. In one family linkage to chromosome 18 could not be excluded. Linkage and segregation analysis in the family suggests that the 12-cM region between D18S51 and D18S61 located at 18q21.33-q23 may contain a candidate gene for BP illness.

Adolescent↗
PubMed1996

A linkage study between bipolar disorder and genes involved in dopaminergic and GABAergic neurotransmission.

Neurobiological studies indicate a dysregulation of the dopaminergic and GABAergic neurotransmission in bipolar disorder. We examined two large families segregating bipolar disorder, for linkage with the genes encoding dopamine beta-hydroxylase, the dopamine transporter DAT1, the dopamine D2, D3 and D5 receptors, and the alpha-1, alpha-5 and beta-1 subunits of the GABAA receptor. Under at least one diagnostic model one of the two families provided evidence to exclude linkage for the DAT1, DRD2, DRD3, DRD5, DBH, GABRA1 and GABARB1 genes but could not exclude the GABRA5 locus. A second family excluded only the GABRA1 and GABRA5 loci at zero recombination and could not formally reject linkage at the DBH, DRD2, DRD3, DRD5, DAT1 and GABARB1 loci. Further analyses at these loci are warranted.

Bipolar Disorder↗
PubMed1995

Relationship between the Newcastle scale and sleep polysomnographic variables in major depression: a controlled study.

In order to investigate the reliability of the endogenous concept of depressive illness with some sleep EEG parameters, we studied 39 male inpatients suffering from a nonbipolar major depressive episode (15 endogenous (MDDE) and 24 nonendogenous (MDDNE)) and 20 age and sex matched normal controls (C). All patients were diagnosed according to the Research Diagnostic Criteria (RDC) and the endogenous character of the episode was assessed with the Newcastle Endogenous Depression Diagnostic Index. We found significant differences for the following variables between the three groups (MDDE, MDDNE and C): sleep period time (SPT), REM latency, stage II, slow wave sleep (SWS), REM latency expressed as a continuous variable and REM latency expressed as a dichotomizing variable with a threshold of 50 min. These variables were used to compare the endogenous and the nonendogenous depressed patients and also the major depressed patients and the normal controls. Significant differences were observed between all depressed patients and control subjects for amount of SWS and REM latency which were both reduced in endogenous and nonendogenous depressed patients. No significant difference was observed between endogenous and nonendogenous depressed patients, except for the REM latency expressed with a threshold of 50 min (more frequently observed in endogenous depressed patients). Our data support the observation that SWS and REM latency are decreased in major depressive patients. However, in this age and sex controlled study, subtyping nonbipolar major depressive disorder for an endogenous character by the Newcastle Endogenous Depression Diagnostic Index (NEDDI) did not reveal further significant differences for sleep EEG variables, except for the shortening of the REM latency expressed as a dichotomizing variable.

Adult↗
PubMed1995

Manic-depressive illness and linkage reanalysis in the Xq27-Xq28 region of chromosome X.

Inconsistent findings in X linkage studies of manic-depressive illness (MDI) have been ascribed to the presence of phenotypic uncertainties (incomplete penetrance), considerable variation in form and severity of MDI, and the likely presence of phenocopies (or false positives). In order to address some of these issues, previous X linkage data with colour blindness, glucose-6-phosphate dehydrogenase deficiency, and blood coagulation factor IX (F9) markers were reanalysed using a narrow and a broad definition of MDI. Our results confirm the X-linked hypothesis for MDI genetic transmission when controlling for diagnostic variation. The lod score (log of odds ratio) is reduced for a more conservative definition of the disease, but nevertheless remains significant. However, conclusive linkage between the MDI gene and the F9 gene in the Xq27 region is not maintained in our series. Our findings emphasize the need to reanalyse previous genetic data with more sophisticated diagnostic and statistical techniques.

Adult↗
PubMed1995

[Heredity and manic-depressive psychosis].

The present article reviews the basic and recent findings of the genetics in manic-depressive illness. The different molecular genetic techniques that have been applied to this research field are presented. Results of linkage and association studies are discussed in regard to the main limitations of these approaches in psychiatric disorders. On the whole, linkage and association studies contributed to the localisation of some potentials vulnerability genes for manic-depression on chromosomes X and 11 and more recently 18.

Bipolar Disorder↗