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Conduct disorder and hyperprolinemia type I: A case report
- L. Olivier, Ó. De Juan, H. Andreu, L. Bueno, M. Llobet, A. Ortiz, A. Morer, L. Lázaro, D. Ilzarbe
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, p. S205
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Introduction
Hyperprolinemia is defined by high proline levels of blood and its primary type consists on a metabolic disorder that is the result of a number of different genetic defects affecting the degradation of proline. The complex relationship between this disease and different psychiatric phenotypes has been an important subject of study in recent years, suggesting a “common psychiatric phenotype” (Namavar et al. Am J Med Genet B Neuropsychiatr Genet 2021; 186(5), 289-317), though its exact characteristics are yet to be determined. A higher prevalence of psychotic disorders (Guo et al. Metab Brain dis 2018; 33 89-97) explained through altered glutamate metabolism, autism spectrum disorders, developmental delay and intellectual disability has been proposed.
ObjectivesTo describe the case of a patient, recently diagnosed of hyperprolinemia type I, presenting a conduct disorder alongside with ADHD, oppositional defiant disorder and an unspecified pervasive developmental disorder.
MethodsWe present the case of a 15-year-old male that has received follow-up care by our mental health services. The patient was born preterm (35+5 weeks) and required reanimation, oxygen therapy, antiretroviral therapy (biological mother was HIV positive) and pharmacological therapy with phenobarbital (in order to treat methadone withdrawal syndrome). It was adopted nationally when he was 18-month-old and experimented an adequate development during his first years, only highlighting slight psychomotor restlessness and distinctive facial features. During the next years, he receives diagnosis of ADHD (with little to no registered response to amphetamine derivatives), oppositional defiant disorder, social pragmatic communication disorder and fetal alcohol syndrome.
ResultsDuring his first hospital admission, a neuropediatrician was contacted to study the patient and recommended for a metabolic screening to be done, where high blood levels of proline were detected (940.1μmol/L). After this, a procedure of massive exome sequencing of genes that were known to be related to alterations in the metabolism of proline was conducted, finding the mutation c.[1357C>T] in the gen PRODH. This translates to an amino acid replacement in the protein proline dehydrogenase (p.[Arg453Cys]; [Arg453Cys]), which has been studied (Bender et al. Am J Hum Genet 2005; 76 409–420) that it reduced its activity in a 70%, making it a very probable cause of the hyperprolinemia.
ConclusionsThere is still scarce evidence of the psychiatric phenotypes presented in patients with hyperprolinemia. Further research is needed in order to accurately define the complex relationship between this metabolic disorder and its effect on the central nervous system.
Disclosure of InterestNone Declared
Atrial fibrillation debut following first electroconvulsive therapy combined with venlafaxine: a case report and a literature review
- L. Ilzarbe, D. Ilzarbe, J. Gil, M. Valentí, O. De Juan, N. Arbelo, C. Llach, M. Bioque
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- Journal:
- European Psychiatry / Volume 65 / Issue S1 / June 2022
- Published online by Cambridge University Press:
- 01 September 2022, pp. S560-S561
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Introduction
Cardiovascular events (CVE) are infrequent adverse effects in patients receiving electroconvulsive therapy (ECT). Nonetheless, it constitutes a threat for patient’s life and may compromise continuing ECT.
ObjectivesTo describe a case of acute-onset atrial fibrillation under combined therapy with ECT and venlafaxine.
MethodsWe present a 76-year-old man diagnosed of delusional disorder and without any previous CVE, who was hospitalized in our acute psychiatric unit by major depressive episode with psychotic symptoms resistant to pharmacological treatment (valproic-acid 100mg/d, haloperidol 6mg/d, venlafaxine 300mg/d). ECT was initiated presenting atrial fibrillation after first session of ECT, requiring amiodarone and anticoagulant treatment for stabilization. Second session of ECT was delayed for three-weeks, worsening the psychiatric symptoms. Haloperidol was discontinued initiating lurasidone with better cardiovascular profile.
ResultsCVE occur in 2% of the patients receiving ECT, being acute arrhythmia the most frequent one. Among them, few cases of atrial fibrillation (AF) under ECT have been reported. It has been hypothesised that initial vagal response followed by catecholamine surge secondary to ECT could facilitate the development of AF. In addition venlafaxine, an antidepressant drug, may also predispose to arrhythmia in high-risk individuals. High doses of venlafaxine (>300mg/d) combined with ECT have been related with an increment of CVE.
ConclusionsAlthough clinically effective for the treatment of major depression disorder, combined therapy of ECT and venlafaxine could precipitate the start of a CVE in genetically susceptible individuals. Therefore, identify and clarify potential risk factors other than previous history of CVE is critical to reduce morbidity and mortality in these patients.
DisclosureNo significant relationships.
Dhat syndrome: A case report on a culture-bound challenge
- L. Ilzarbe, D. Ilzarbe, N. Arbelo, C. Llach, G. Anmella, E. Vieta, A. Murru
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- Journal:
- European Psychiatry / Volume 64 / Issue S1 / April 2021
- Published online by Cambridge University Press:
- 13 August 2021, p. S733
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Introduction
Dhat Syndrome is a culture-bound entity frequent in the Indian subcontinent. It is characterized by somatic symptoms, together with depressive and anxiety features, specifically focused on the belief of losing semen through urine1.
ObjectivesTo describe an atypical Dhat Syndrome case in European cultural context,and to determine the appropriate diagnostic frame and subsequent therapeutic approach.
MethodsWe present the case of a 37-year-old Indian man attended in our psychiatric outpatient unit mainly due to somatic complaints (gastrointestinal, sexual dysfunction, weakness, and dizziness). He interpreted his problem as possibly due to diabetes and hypothyroidism, and specifically from sugar loss in urine. Organic diseases were excluded.
ResultsAlthough considered as culture-bound, Dhat syndrome has been classified as a subtype of depression, anxiety disorder, somatoform disorder2,3,4, and even a prodromal phase of schizophrenia5. Antidepressants and benzodiazepines are the most recommended pharmacological treatments1. Antipsychotic agents have been used when clear psychotic symptoms were present (auditory hallucinations,delusions)5. Nonetheless, paliperidone 6mg/d was initiated at baseline, with good response and partial remission of the symptoms at two weeks, despite the absence of clear psychotic features. Culturally-informed cognitive-behavioural therapy, as well as sexual education could be beneficial were planned and initiated1.
ConclusionsData on Dhat Syndrome is scarce, yet agreement exist in considering the cultural context of the patient to avoid diagnostic delays. The adequate treatment remains uncertain. Antipsychotics may be a potential treatment. Further research is necessary to clarify the nature of this syndrome but European clinicians must be aware of culturally-mediated psychiatric manifestations which are increasingly prevalent due to globalization.
DisclosureNo significant relationships.
EPA-1231 – Study of Psychiatric Emergencies in Children and Adolescents
- M. Fabrega Ribera, D. Ilzarbe, S. Mansilla, A. Pérez, M. Vázquez, V. Soler, R. Martín-Santos, L. Lázaro
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- Journal:
- European Psychiatry / Volume 29 / Issue S1 / 2014
- Published online by Cambridge University Press:
- 15 April 2020, p. 1
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Introduction:
The urgent children and adolescent psychiatric consultations have increased recently[1] and may be the first contact with the mental health network[2].
Objectives and Aims:To describe and analyze the population<18 years old admitted at the psychiatry emergency department(ED) of Hospital Clínic of Barcelona between june/12-may/13.
Methods:Demographic and clinical data were collected, using SPSSv.19.0 for statistical analysis.
Results:596 emergency visits from out of 420 patients were recorded[46.3% male, mean age 14.52(6-17)years]. The most frequent consultation reason was behavior disorder(54.4%), being the most common diagnosis externalizing disorder(51.2%). 44.8% had been previously attended an average of 3(1-17)times in our ED. 85.6% were already under psychiatric follow-up and 67.8% had been psychopharmacologically treated. Prior psychiatric hospitalizations occurred in 35.1%[average 1-3times]. 27.4% required acute hospitalization at the ED discharge.
Most of consultations were between 12:00–13:00PM and 18:00–20:00PM, maximal activity was detected on Monday(17.6%) and minimal on Sunday(9.1%). Holiday periods coincided with a consultation decrease while April-May-June period accumulated a third of them. The stay time average in ED was 6.41 hours(15min-3days) and a 32.6% required pharmacological treatment.
Conclusions:Since 2009 a reduction of 14.16% of the total psychiatric emergencies has been detected in our ED, but children and adolescents consultations have increased an 18%.Data obtained of the most common diagnosis and circadian and weekly distribution of visits are consistent with previous studies[1]. Greater prevalence of behavioral disorder was found in frequenters (3emergent consultations/year), which calls for further studies to optimize the approach to this problem.
EPA-1241 – Clinical Use of Spect Datscan in Psychiatric Population: One-year Outcomes of a Prospective Case Series
- D. Ilzarbe, P. Bruguera, A. Batalla, M. Udina, J.M. Roca, A. Pons, F. Lomeña, R. Martín-Santos, E. Parellada
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- Journal:
- European Psychiatry / Volume 29 / Issue S1 / 2014
- Published online by Cambridge University Press:
- 15 April 2020, p. 1
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Introduction:
SPECT DaTSCAN is used in clinical practice for differential diagnosis between Parkinson disease and other movement disorders, dementias and drug induced parkinsonism (Park 2012, Scherfler 2007). Nevertheless, its rational indication in patients with psychiatric comorbidity has not been clearly identified.
Objective:To assess the rationale for the indication of SPECT DaTSCAN in psychiatric population, explore the therapeutic consequences and clinical outcomes.
Material-And-Methods:A prospective case series of DaTSCAN applications requested from the department of psychiatry of a general hospital (2008–2012). Reason of request, sociodemographic and clinical data, side effects (UKU Rating Scale), diagnostic (DSM-IV-R) and outcome after one-year follow-up were recorded.
Results:18 cases were included (13 hospitalized, 55.5% women, 65±13 years old). Baseline UKU showed: 89.5% bradikinesia, 68% rigidity and 31.5% tremor. The indications for DaTSCAN were: 1) Atypical extrapiramidal syndrome (AES; 55.5%) and 2) Parkinsonism presumably induced by drugs (PPID; 44,4%).
AES group (N=10): 80% of patients had an affective disorder and 20% a psychotic disorder; DaTSCAN identified three cases of Parkinson disease (30%), two non-parkinson dementia (20%) and one Huntington disease (10%).
PPID group (N=8): 50% of patients had an affective disorder and 50% a psychotic disorder; DaTSCAN identified one case of Parkinson disease (12.5%) and five of drug-induced parkinsonism (62,5%).
After one year follow-up, AES group showed a worse outcome and an important functional decline, while most of patients of PPID group experienced complete remission
Conclusions:The results of this study enable to establish the profile of psychiatric patients that would beneficiate most from DaTSCAN.