Aggeliki Katrivanou

Mutation screening of the Wolfram syndrome gene in psychiatric patients

Wolfram syndrome, a rare autosomal recessive neurodegenerative disorder, was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. It was later demonstrated that Wolfram syndrome patients were highly prone to psychiatric disorders. Mutations in exon 8 of the Wolfram syndrome gene account for 88% of the patients with Wolfram syndrome. To examine whether the gene responsible for causing Wolfram syndrome is involved in psychiatric disorders, we screened exon 8 of the Wolfram syndrome gene for mutations in 119 patients with schizophrenia, one patient with schizoaffective disorder, 12 patients with bipolar disorder and 15 patients with major depression, using sequence analysis. In Wolfram syndrome patients, this gene has been shown to have primarily nonsense or frameshift mutations, which would result in a premature truncation of the protein. None of the psychiatric patients screened in this study carried these types of mutations. We identified, however, 24 new variations whose significance remains to be determined.

Sintomatología de las fases activa y prodrómica de la esquizofrenia paranoide de inicio en el joven y de inicio tardío

INTRODUCTION Young and late onset patients with paranoid schizophrenia were compared, regarding the initial prodromal and active phases of the disorder, in order to examine the influence of age of onset on the prodromal and active phase symptomatology of the disease. MATERIALS AND METHODS We examined 88 consecutively hospitalized patients with paranoid schizophrenia. Age cutoff points were set at <30 years of age for the young, and ≥35 years of age for the late onset group. Diagnoses were made prospectively, using the Structured Clinical Interview for DSM-IV-Patient Edition for Axis I disorders (SCID-P). Type and severity of psychopathology in the active phase were assessed by applying the Structured Clinical Interview for Positive and Negative Syndrome Scale (PANSS). Patients were retrospectively examined regarding their initial prodromal symptoms by applying the Structured Clinical Interview for DSM-III-R Patient Edition and clinical interviewing for additional symptoms. Comparisons were performed by applying the two-tailed Wilcoxon rank-sum and the chi-square statistical tests. RESULTS The young onset group was characterized by significantly more negative prodromal symptoms, and heavier negative symptomatology in the active phase, than the late onset group. Differences were more prominently shown in male patients. CONCLUSIONS Older age of onset of paranoid schizophrenia appears to be related to a less severe form of the disease, characterized by less severity of negative symptomatology, already demonstrated in the prodromal phase of the disorder.

Treatment of Tardive Dystonia Induced by Antipsychotics, Old and New.

ObjectivesTardive dystonia is a serious extrapyramidal side effect emerging after long-term treatment with antipsychotics, frequently with a deteriorating course, and unsatisfactory treatment. Presently, clozapine is used for the cotreatment of tardive dystonia and psychosis, at the cost of serious side effects. Apart from clozapine, there have been case reports describing positive effects of quetiapine on dystonic symptoms. Aim of the present study was to demonstrate the ameliorating effects of quetiapine on dystonic symptoms, in a sample of patients suffering from antipsychotic-induced tardive dystonia. MethodsQuetiapine was administered to 16 consecutively enrolled stabilized patients with psychotic or mood disorders and tardive dystonia, replacing the “offending drugs,” over a 3-month cross-tapering period. Target dose of quetiapine was set according to the defined daily dose of the received antipsychotic(s) at baseline, as reviewed by the World Health Organization Center of Drug Statistics Methodology, aiming at both maintenance of psychosis control and reduction of dystonic symptoms. ResultsPatients were found to have significant positive results in amelioration of dystonia (P < 0.001) over a 1-year period, without loss of antipsychotic efficacy. Reduction of dystonic symptoms with the use of quetiapine could be considered comparable with the positive effects of clozapine, with the additional advantage of relatively lacking serious side effects. ConclusionsQuetiapine may represent a valuable therapeutic choice for the treatment of tardive dystonia.

Short Stature, Type E Brachydactyly, Exostoses, Gynecomastia, and Cryptorchidism in a Patient with 47,XYY/45,X/46,XY Mosaicism

We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a XYY karyotype.

Enzyme Replacement Therapy in Severe Fabry Disease with Renal Failure: A 1-year Follow-up

We present here the course of clinical response of a 53-year-old haemodialysed Fabry patient who received recombinant human alpha-galactosidase A at a dose of 1 mg/kg every other week over a period of 1 year. The therapy was well tolerated by the patient, who revealed an impressive favourable cutaneous, gastrointestinal, neurological and psychiatric response and a dramatic improvement in his quality of life, but no improvement in cardiac and renal function.

PW01-32 - A Prospective study of depression, anxiety and mood disorders in acne patients treated with oral isotretinoin

Introduction Oral isotretinoin is presently regarded as the drug of choice for the treatment of severe and recalcitrant acne. Objectives Although its use has been associated with various psychiatric side effects, the casual relationship between these manifestations and oral isotretinoin still remains in dispute. Aims The purpose of this study was to investigate the incidence of psychopathological reactions in patients with severe acne orally treated with isotretinoin. Methods Seventy-two (72) patients with severe acne and thirty-six (36) healthy volunteers acne enrolled in the study from January 2003 and August 2009. Acne patients were allocated either to oral isotretinoin (1mg/kg/day) (N=36) or to topical treatment (N=36). All patients and controls were separately interviewed by two psychiatrists before and 1, 3 and 6 months after onset of treatment. Their psychological status was evaluated using SCID-I, SCID-II (DSM-IV) and Hamilton Scale for Depression and Anxiety. Results A statistical significant increase in the incidence of depression, mood and/or anxiety disorders was observed in the group of isotretinoin-treated acne patients as compared to the group of those topically treated and to healthy controls. No association between development of symptoms of mental disorder and duration of treatment with isotretinoin was detected. Conclusions In view of the above findings it seems reasonable to suggest that oral isotretinoin may be capable of causing anxiety and/or depressive or other mood disorders in patients with severe acne. Close psychiatric monitoring should be included in the investigations that are routinely performed throughout oral isotretinoin treatment of these patients.