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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
Psychotic disorders in young patients with Prader-Willi syndrome: A case report and literature review
- O. De Juan Viladegut, M. Llobet Farré, H. Andreu Gracia, L. Bueno Sanya, L. Olivier Mayorga, A. Morer Liñan, L. Lázaro García, A. E. Ortiz García
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, p. S395
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Introduction
Prader-Willi syndrome (PWS) is a genetic disorder with an estimated prevalence of 1:25,000. PWS results from defective gene expression on the paternal copy of chromosome 15. In 70% of the cases it is a deletion that means that part of the paternal chromosome 15 is missing. Maternal uniparental disomy (mUPD) is present in 25% of cases. Typical clinical features of PWS are dysmorphism, hypotonia, hyperphagia, hypogonadism and developmental delay. In addition, the syndrome is accompanied by various psychiatric symptoms that are often insufficiently known within the psychiatric field. Regarding the relationship between PWS and schizophrenia spectrum disorders (SSDs), individuals with mUPD appear to have a 3 to 4 times higher risk of psychotic symptoms than those with the deletion subtype. Psychotic episodes have an atypical presentation with recurrent episodes of confusion and rapidly fluctuating psychotic and mood symptoms.
ObjectivesTo describe an unusual clinical case in order to determine the management regarding clinical approach, and provide an overview of psychotic episodes in patients with PWS for the general practitioner with the most up-to-date information on workup and management.
MethodsWe report a case involving a 13-year-old woman with PWS (mUPD of chromosome 15) and mild intellectual disability (IQs 59), who presented psychotic symptomatology in the form of disorganized behavior, delusional ideation, auditory hallucinations, self-referentiality and suspicion. Parents reported that these symptoms started two days prior the day of consultation. No environmentals stressors were identified and no recent treatment changes were made. Patient’s medication consists in 150 mg sertraline per day due to anxiety control and aid in emotional and behavioral regulation.
ResultsGiven the diagnostic approach of a psychotic episode (PE) in a patient with PWS, it was decided to offer 0.5mg risperidone per day, in an increasing pattern until reaching a final dose of 1.25 mg per day, presenting a global remission of the psychotic symptomatology.
Recommendations for patients with PWS presenting PE are based upon systematic reviews. Patients with PWS, especially mUPD subjects, are at risk for SSDs and mood disorders. Antipsychotics (APs) are the gold standard in the treatment of SSDs, and some authors have suggested that APs protect patients with previous psychotic symptoms from relapse. It is unknown whether there is a protective effect of APs in mUPD patients who have not previously exhibited psychotic signs.
ConclusionsPWS represents a good example of a genetic disease with behavioral and psychiatric symptoms that may be challenging to treat with psychotropic medications. For a better understanding of psychiatric problems in adults with PWS, longitudinal studies with careful and standardized follow-up of psychiatric symptoms in PWS are necessary.
Disclosure of InterestNone Declared
Restraint or not restraint. Involuntary transport from home of schizophrenic patients
- B. Samso, S. Ramos, A. Malagón, A. Gonzalez, M. Bellsolà, J. León, M. Llobet, L. Alba, V. Pérez, L.M. Martín, D. Córcoles
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- European Psychiatry / Volume 41 / Issue S1 / April 2017
- Published online by Cambridge University Press:
- 23 March 2020, p. s836
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Introduction
Although physical restraint (PR) is a non-rarely practice on psychiatry there are few studies that focus the attention on the risk factors for this intervention. PR is a legitimacy practice when is needed and well applied but is not free from side effects. Knowing risk factors might be useful to improve the application of PR.
ObjectivesStudy the risk factors involved with the use of PR at patient's home in individuals with schizophrenia before the involuntary transport (IT) to a psychiatric facility.
MethodsIs a descriptive and observational study of 267 psychotic patients that were assisted by a psychiatric home care unit (EMSE) in Barcelona during their IT. The sample was divided in two groups, depending on the need of PR. Socio-demographic data were collected as well as positive and negative syndrome scale (PANSS), WHO disability assessment schedule (WHO/DAS), global assessment of functioning scale (GAF), Scale to assess unawareness of mental disorder (SUMD). Aggressiveness was assessed by PANSS-EC consisting of 5 items: excitement, tension, hostility, uncooperativeness and poor impulse.
ResultsFrom the 267 psychotic patients 109 required PR. 154 were male and the average of age was 47. The results were significant in the PR group versus no PR for PANSS-EC (P = 0.000), as well as WHO/DAS (P = 0.017), GAF (P = 0.042), Positive PANSS (P = 0.000), age (P = 0.001) and substance use (P = 0.012). Were no significant for gender, insight or Negative PANSS.
ConclusionsAggressiveness and violence were the most important PR related factors followed by positive symptoms, age, substance use and global functioning.
Disclosure of interestThe authors have not supplied their declaration of competing interest.
A foodborne outbreak of Salmonella infection due to overproduction of egg-containing foods for a festival
- N. CAMPS, A. DOMÍNGUEZ, M. COMPANY, M. PÉREZ, J. PARDOS, T. LLOBET, M. A. USERA, L. SALLERAS
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- Journal:
- Epidemiology & Infection / Volume 133 / Issue 5 / October 2005
- Published online by Cambridge University Press:
- 26 May 2005, pp. 817-822
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A large outbreak of gastroenteritis occurred in Catalonia in June 2002 with 1435 cases and 117 hospitalizations. Consumption of a hard pastry with vanilla cream was strongly associated with illness. Stool samples from cases and food-handlers were analysed. The premises of the food manufacturer were inspected and food samples were taken for microbiological analysis. Salmonella serotype Enteriditis was isolated from 154 cases, three food-handlers and nine food samples. Outbreak-associated strains showed a coincident phage type, antibiotype and pulse-field gel electrophoresis pattern. Inadequate handling of foods containing eggs occurred because the establishment exceeded its safe food production capacity to meet demand for the pastry, which was consumed on the day of a traditional festival. Excessive production of foods for holidays or special events represents a potential public health threat.