Examining the independent and joint effects of genomic and exposomic liabilities for schizophrenia across the psychosis spectrum.

AIMS: Psychosis spectrum disorder has a complex pathoetiology characterised by interacting environmental and genetic vulnerabilities. The present study aims to investigate the role of gene-environment interaction using aggregate scores of genetic (polygenic risk score for schizophrenia (PRS-SCZ)) and environment liability for schizophrenia (exposome score for schizophrenia (ES-SCZ)) across the psychosis continuum. METHODS: The sample consisted of 1699 patients, 1753 unaffected siblings, and 1542 healthy comparison participants. The Structured Interview for Schizotypy-Revised (SIS-R) was administered to analyse scores of total, positive, and negative schizotypy in siblings and healthy comparison participants. The PRS-SCZ was trained using the Psychiatric Genomics Consortiums results and the ES-SCZ was calculated guided by the approach validated in a previous report in the current data set. Regression models were applied to test the independent and joint effects of PRS-SCZ and ES-SCZ (adjusted for age, sex, and ancestry using 10 principal components). RESULTS: Both genetic and environmental vulnerability were associated with case-control status. Furthermore, there was evidence for additive interaction between binary modes of PRS-SCZ and ES-SCZ (above 75% of the control distribution) increasing the odds for schizophrenia spectrum diagnosis (relative excess risk due to interaction = 6.79, [95% confidential interval (CI) 3.32, 10.26], p < 0.001). Sensitivity analyses using continuous PRS-SCZ and ES-SCZ confirmed gene-environment interaction (relative excess risk due to interaction = 1.80 [95% CI 1.01, 3.32], p = 0.004). In siblings and healthy comparison participants, PRS-SCZ and ES-SCZ were associated with all SIS-R dimensions and evidence was found for an interaction between PRS-SCZ and ES-SCZ on the total (B = 0.006 [95% CI 0.003, 0.009], p < 0.001), positive (B = 0.006 [95% CI, 0.002, 0.009], p = 0.002), and negative (B = 0.006, [95% CI 0.004, 0.009], p < 0.001) schizotypy dimensions. CONCLUSIONS: The interplay between exposome load and schizophrenia genetic liability contributing to psychosis across the spectrum of expression provide further empirical support to the notion of aetiological continuity underlying an extended psychosis phenotype.

MCCB cognitive profile in Spanish first episode schizophrenia patients.

The objective of the study was to examine the cognitive profile of Spanish patients with a first episode of schizophrenia (FESz) and to compare that to the profile of patients with a chronic schizophrenia (CSz) and non-psychiatric (NP) control subjects. The study included 106 FESz, 293 CSz, and 210 NP, assessed with the Spanish version of the MATRICS Consensus Cognitive Battery (MCCB). The MCCB cognitive profile in a Spanish sample of FESz was similar to the cognitive profile of CSz with some discrepancies in select domains. The scores of both patient samples were about 1-2 SD below the scores of non-psychiatric control subjects.

Importancia de la electrofisiología ocular en el diagnóstico de las distrofias retinianas / Importance of ocular electrophysiology in the diagnosis of retinal dystrophies

Antecedentes y objetivo: El diagnóstico de las distrofias retinianas es complejo y se basa en estudio oftalmológico completo, estudio genético y los estudios electrofisiológicos (EEF). En este estudio pretendemos evaluar el papel de las pruebas electrofisiológicas y del médico solicitante en el diagnóstico de las distrofias de retina. Materiales y métodos: Estudio observacional retrospectivo. Se seleccionaron 50 pacientes atendidos en el Servicio de Neurofisiología del Hospital Universitario Virgen Macarena. Se valoró el sexo, la edad, el hospital de origen, motivo por el que se solicitó los EEF, diagnóstico de presunción tras examen oftalmológico, EEF realizados, estudio genético y el diagnóstico definitivo tras realización de EEF. Se elaboró un sistema de clasificación que otorga a cada caso un valor comprendido entre 0 y 2, en función de la contribución de las pruebas electrofisiológicas al diagnóstico final. Resultados: La edad media fue 44,34 ± 18,03 años (60% mujeres). Retinosis pigmentaria, neuropatía óptica y enfermedad de Stargardt fueron los diagnósticos más frecuentes. Los EEF modificaron el diagnóstico de presunción en el 48% de los casos, confirmaron el diagnóstico en el 44% y no aportaron información en el 8%. La contribución de los EEF fue mayor en pacientes atendidos en el Hospital Universitario Virgen Macarena y cuando se solicitaban por hallazgos en la exploración (p = 0,001). Los falsos positivos para distrofia retiniana fueron del 60% en pacientes no valorados en dicho hospital. Conclusiones: Las pruebas electrofisiológicas y el manejo especializado de los pacientes con distrofias retinianas desempeñan un papel importante en el diagnóstico de estas patologías

Background and objective; The diagnosis of retinal dystrophies is complex and is based on complete ophthalmological study, genetic study and electrophysiological studies (EPS). In this study, we intend to evaluate the role of electrophysiological and medical tests in the diagnosis of retinal dystrophies. Material and methods: A retrospective observational study was conducted on 50 selected patients that attended the Neurophysiology Department of the University Hospital Virgen Macarena. An analysis was made of the variables that included, gender, age, referral hospital, reason for which the EPS was requested, applied EPS, genetic study, presumed diagnosis, and definitive diagnosis after EPS. A classification system was subsequently developed, which gives each case a value between 0 and 2, depending on the contribution of the electrophysiological tests to the final diagnosis. Results: The mean age was 44.34 ± 18.03 years (60% women). Retinitis pigmentosa (24%), optic neuropathy (12%), and Stargardt's disease (8%) were the most frequent diagnoses. The EPS modified the presumed diagnosis in 48% of the cases, confirmed the diagnosis in 44%, and did not provide any useful information in 8%. The contribution of the EPS was greater in patients seen in the HUVM and when requested by findings in the examination (P = .001). The false positives in the diagnosis of retinal dystrophy were 60% in patients not evaluated by the University Hospital Virgen Macarena. Conclusions: Electrophysiological test and specialised management of patients with retinal dystrophies play an important role in the diagnosis of these conditions

Importance of ocular electrophysiology in the diagnosis of retinal dystrophies. / Importancia de la electrofisiología ocular en el diagnóstico de las distrofias retinianas.

BACKGROUND AND OBJECTIVE: The diagnosis of retinal dystrophies is complex and is based on complete ophthalmological study, genetic study and electrophysiological studies (EPS). In this study, we intend to evaluate the role of electrophysiological and medical tests in the diagnosis of retinal dystrophies. MATERIAL AND METHODS: A retrospective observational study was conducted on 50 selected patients that attended the Neurophysiology Department of the University Hospital Virgen Macarena. An analysis was made of the variables that included, gender, age, referral hospital, reason for which the EPS was requested, applied EPS, genetic study, presumed diagnosis, and definitive diagnosis after EPS. A classification system was subsequently developed, which gives each case a value between 0 and 2, depending on the contribution of the electrophysiological tests to the final diagnosis. RESULTS: The mean age was 44.34 ±18.03 years (60% women). Retinitis pigmentosa (24%), optic neuropathy (12%), and Stargardt's disease (8%) were the most frequent diagnoses. The EPS modified the presumed diagnosis in 48% of the cases, confirmed the diagnosis in 44%, and did not provide any useful information in 8%. The contribution of the EPS was greater in patients seen in the HUVM and when requested by findings in the examination (P=.001). The false positives in the diagnosis of retinal dystrophy were 60% in patients not evaluated by the University Hospital Virgen Macarena. CONCLUSIONS: Electrophysiological test and specialised management of patients with retinal dystrophies play an important role in the diagnosis of these conditions.

Emotion processing and psychosocial functioning in euthymic bipolar disorder.

OBJECTIVE: To examine emotion processing in euthymic bipolar patients (EBP) compared to healthy controls. In addition, to determine whether or not there is an association between emotion processing and psychosocial functioning. MATERIAL AND METHODS: A sample of 60 EBP and 60 healthy controls matched for age, gender, education level, and premorbid intelligence were studied. All subjects were assessed using the MATRICS Consensus Cognitive Battery (MCCB) and two additional executive function measures: the Trail Making Test-Part B and the Stroop Test. Emotion processing was examined using the Mayer-Salovey-Caruso Emotional Intelligence Test (MSCEIT). Psychosocial functioning was assessed using the Functional Assessment Short Test (FAST). RESULTS: Euthymic bipolar patients obtained lower scores than controls in all MSCEIT measures except for the using emotions branch. Likewise, EBP obtained a worse performance than healthy controls in all neurocognitive domains. Correlation between MSCEIT strategic area measures and FAST total score was found (r = -0.311; P < 0.016). Regression analysis showed that residual depressive symptomatology explains a 9.1% of the variance in functional outcome. MSCEIT strategic area score explained an additional 8.6%. Neurocognition did not increase the percentage of the variance explained by emotion processing. CONCLUSIONS: Euthymic bipolar patients exhibit deficits in emotion processing. Emotion processing is associated with social functioning in these patients.

Intoxicación aguda por ingesta intencional de fenobarbital sódico / Acute poisoning whit pills of sodium phenobarbital

Se presenta una paciente femenina, de 38 años de edad, que ingirió con fines suicidas 160 tabletas de 100 mg de fenobarbital y a las 72 horas de desaparecida fue encontrada en estado de coma. La paciente presentó coma profundo, shock hemodinámico y posteriormente una neumonía por bronco aspiración. Se aplicaron medidas generales y tratamiento sintomático además de hemocarboperfusión de urgencia. El examen toxicológico se realizó mediante técnicas de cromatografía en placa fina, seguidos de test colorimétrico y el empleo de extracción en fase sólida (SPE) y cromatografía gaseosa acoplada a detector de masas utilizando monitorización de iones seleccionados (SIM). Los resultados fueron positivos a la presencia de fenobarbital en orina y contenido gástrico. Los valores en sangre de fenobarbital fueron de 479 μmol L-1 96 horas tras la ingesta. Tras el sexto día de ingreso tuvo una evolución satisfactoria debido al rápido diagnóstico toxicológico y tratamiento con los métodos de depuración renal y extra renal, a pesar de la cantidad ingerida de 16 g (AU)

A case is reported of a female patient of 38 years old, who ingested 160 pills of 100 mg of phenobarbital with the purpose of committing suicide, and who was founded in state of coma after 72 hours of being missed. The patient presented a state of deep coma, haemodynamic shock and later a pneumonia for rough aspiration. General measures and symptomatic treatment were applied, as well as urgent charcoal haemoperfusion. The toxicological examination was carried out by means of thin layer chromatographic techniques, colorimetric test and solid phase extraction (SPE) and gas chromatography mass spectrometry using selected ion monitoring (SIM). The results were positive to the presence of phenobarbital in urine and gastric content. The serum phenobarbital concentration was 479 μmol L-1 96 hours after the ingestion. After the sixth day of admission, her evolution was satisfactory because of the rapid toxicological diagnosis and the treatment with methods of renal and extra renal purification, in spite of the ingested quantity of 16 g. phenobarbital (AU)