Funciones cognitivas en la descendencia de pacientes con trastorno bipolar I / Psychopathological and neuropsychological profile in the offspring of patients with bipolar disorder type I

Resumen Objetivo: Describir las características neuropsicológicas de niños y adolescentes descendientes de padres con antecedentes de TB I, respecto a la aplicación de una prueba estandarizada de inteligencia. Materiales y métodos: Estudio observacional descriptivo de corte transversal, en donde los autores investigaron el Coeficiente Intelectual Total; Índice de compresión verbal; Índice de Razonamiento Perceptual; Índice de Memoria de trabajo; Índice de Velocidad de Procesamiento. Se evaluaron (n=30) descendientes al aplicar varias subpruebas de la Escala de inteligencia de Weschler para niños, (WISC -IV). Resultados: El Coeficiente Intelectual Total de los participantes con un 63,3% está por debajo del promedio de la curva de distribución normal, según la estandarización del test de inteligencia aplicado. Clasificando la tendencia de la muestra como un promedio normal bajo, en cuanto a la muestra evaluada. Los índices de memoria de trabajo y compresión verbal fueron las funciones cognitivas con puntuaciones más bajas en la muestra. Discusión: Nuestros hallazgos sugieren un riesgo en hijos de pacientes con TBI, que puede contribuir a un incremento cuantitativo de las alteraciones cognitivas, especialmente el índice de memoria de trabajo y compresión verbal. Estos hallazgos pueden sugerir un posible endofenotipo del TB I y su descendencia, en relación a la presentación temprana de alteraciones cognitivas en este grupo de riesgo. Dichos hijos podrían ser un punto de partida para realizar estudios que determinen predicción y realizar así un abordaje temprano.

Abstract Objective: To describe the neuropsychological characteristics of offspring children and adolescents of patients with bipolar disorder type 1 diagnosis through the application of a standardized intelligence test. Materials and methods: In this descriptive cross-sectional observational study, the authors investigated aspects such as Intelligence Quotient, Verbal Comprehension Index, Perceptual Reasoning Index, Working Memory Index, and Processing Speed Index. Here, 30 descendants were evaluated by applying several subtests of the Wechsler Intelligence Scale for Children (WISC-IV). Results: The Total Intelligence Quotient of 63.3% of the participants is below the average of the Normal Distribution curve according to the standardization of the intelligence test applied which classifies the tendency of the sample as a low normal average. The working memory and verbal comprehension indexes were the cognitive functions with the lowest scores in the sample. Discussion: Our findings suggest a risk in children of patients with Bipolar Disorder type I, which may contribute to a quantitative increase of cognitive disorders, especially in terms of working memory and verbal comprehension indexes. These findings may indicate a possible endophenotype of Bipolar Disorder type I patients and their offspring in regards to the early manifestation of cognitive disorders in this risk group. These children could be a target for studies that determine prediction and thus perform an early treatment.

Estudios de agregación plaquetaria como endofenotipo de las alteraciones hereditarias de la fibra colágena / Platelet aggregation studies as an endophenotype of hereditary disorders of collagen fiber

Introducción: Las plaquetas contribuyen a la hemostasia y la interrupción heredada o adquirida; en sus procesos bioquímicos pueden alterar la función plaquetaria. Estos trastornos de agregación se han asociado a enfermedades genéticas con afectación del tejido conectivo como el síndrome Ehlers-Danlos, cuyo diagnóstico diferencial con el espectro de hipermovilidad articular resulta difícil clínica y molecularmente. Estas entidades con afectación en las fibras colágenas y diferente repercusión clínica precisan diferenciales en su diagnóstico clínico. Métodos: Se revisaron 353 historias clínicas de pacientes atendidos en el Servicio de Genética del Hospital Pediátrico William Soler desde septiembre del 2009 al 2012, con diagnóstico de hipermovilidad articular por criterios de Beighton y de Ehlers-Danlos según Villefranche (1997). Se incluyó a los pacientes de 5-18 años con resultados documentados del estudio de agregación plaquetaria, valorados por especialistas en hematología. Resultados: Se encontraron trastornos de agregación plaquetaria en 79 de 86 pacientes (92 por ciento). En 7 casos con hipermovilidad de 65 con este diagnóstico (10 por ciento), los resultados fueron negativos. Los 21 con síndrome Ehlers-Danlos tuvieron afectaciones con los fosfolípidos plaquetarios. La hipermovilidad articular estuvo asociada a la combinación difosfato de adenosina (ADP)-epinefrina y el Ehlers-Danlos a la combinación ADP-epinefrina-colágeno-fosfolípidos. Conclusiones: Los pacientes con hipermovilidad articular mostraron asociación a defectos de liberación de gránulos con agonistas como el ADP-epinefrina y los Ehlers-Danlos con la disponibilidad de los fosfolípidos, relacionados con el cambio de forma plaquetaria. Este resultado puede ser una herramienta para conocer el endofenotipo funcional plaquetario como elemento diferencial en los trastornos de la fibra colágena(AU)

Introduction: Platelets contribute to hemostasis and inherited or acquired interruption; in its biochemical processes it can alter platelet function. These aggregation disorders have been associated with genetic diseases with connective tissue involvement such as Ehlers-Danlos syndrome, whose differential diagnosis with the spectrum of joint hypermobility is clinically and molecularly difficult. These entities with involvement of the collagen fibers and different clinical repercussions require differentials in their clinical diagnosis. Methods: 353 medical records of patients attended in the Genetics service of the William Soler Pediatric Hospital from September 2009 to 2012, with a diagnosis of joint hypermobility by Beighton and Ehlers-Danlos criteria according to Villefranche (1997) were reviewed. Patients aged 5-18 years were included with documented results of the platelet aggregation study, assessed by specialists in hematology. Results: Platelet aggregation disorders were found in 79 of 86 patients (92 percent). In 7 cases with hypermobility of 65 with this diagnosis (10 percent), the results were negative. The 21 with Ehlers-Danlos syndrome had affectations with platelet phospholipids. Joint hypermobility was associated with the combination adenosine diphosphate (ADP) -epinephrine and the Ehlers-Danlos with the combination ADP-epinephrine-collagen-phospholipids. Conclusions: Patients with joint hypermobility showed an association to granule release defects with agonists such as ADP-epinephrine and Ehlers-Danlos with the availability of phospholipids, related to platelet shape change. This result can be a tool to know the platelet functional endophenotype as a differential element in collagen fiber disorders(AU)

Association of BDNF gene polymorphism with endophenotypes in posttraumatic stress disorder

SUMMARY OBJECTIVE To explore the association of brain-derived neurotrophic factor gene (BDNF) polymorphism with the latent cognitive endophenotype of posttraumatic stress disorder (PTSD) after major natural disasters in Hainan Province, China. METHODS A total of 300 patients with PTSD and 150 healthy controls (HC) were surveyed by psychoanalysis scale to assess their cognitive functions. Polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) were used to detect the BDNF gene polymorphism. RESULTS In terms of the cognitive function, the scores in the PTSD group were worse than those of the HC group (P < 0.05 or P < 0.01). There was a significant difference in the distribution of BDNF genotype and allele frequency between the two groups (P < 0.05). PTSD endophenotypes were significantly different among the BDNF genotypes in the PTSD group (P ≤ 0.01). CONCLUSION There is a statistically significant difference in the polymorphism of BDNF gene between PTSD and HC groups, and the alleles are associated with the incidence of PTSD. Thus, it may be a risk factor for PTSD.

RESUMO OBJETIVO Explorar a associação do polimorfismo do gene fator neurotrófico derivado do cérebro (BDNF) com o endofenótipo cognitivo latente de transtorno de estresse pós-traumático (TEPT) após grandes desastres naturais na província de Hainan, China. MÉTODOS Um total de 300 doentes com TEPT e 150 controles saudáveis (HC) foi investigado pela escala de psicanálise para avaliar as suas funções cognitivas. A reação em cadeia polimerase (PCR) e a eletroforese em gel de poliacrilamida (Page) foram usadas para detectar o polimorfismo do gene BDNF. RESULTADOS Em termos de função cognitiva, as pontuações no grupo TEPT foram piores do que as do grupo HC (P<0,05 ou P<0,01). Houve uma diferença significativa na distribuição do genótipo de BDNF e frequência do alelo entre os dois grupos (P<0,05). Os endofenótipos de TEPT foram significativamente diferentes entre os genótipos de BDNF do grupo TEPT (P≤0,01). CONCLUSÃO Existe uma diferença estatisticamente significativa no polimorfismo do gene BDNF entre o TEPT e os grupos HC, e os alelos estão associados à incidência do TEPT. Assim, pode ser um fator de risco para TEPT.

Increased Expression of Interleukin-12 in Lesional Skin of Atopic Dermatitis Patients with Psoriasiform Features on Histopathology: An Immunohistochemical Study

Smaller left anterior cingulate cortex in non-bipolar relatives of patients with bipolar disorder

Objective: Bipolar disorder (BD) is highly heritable. The present study aimed at identifying brain morphometric features that could represent markers of BD vulnerability in non-bipolar relatives of bipolar patients. Methods: In the present study, structural magnetic resonance imaging brain scans were acquired from a total of 93 subjects, including 31 patients with BD, 31 non-bipolar relatives of BD patients, and 31 healthy controls. Volumetric measurements of the anterior cingulate cortex (ACC), lateral ventricles, amygdala, and hippocampus were completed using the automated software FreeSurfer. Results: Analysis of covariance (with age, gender, and intracranial volume as covariates) indicated smaller left ACC volumes in unaffected relatives as compared to healthy controls and BD patients (p = 0.004 and p = 0.037, respectively). No additional statistically significant differences were detected for other brain structures. Conclusion: Our findings suggest smaller left ACC volume as a viable biomarker candidate for BD.

Riluzole Selective Antioxidant Effects in Cell Models Expressing Amyotrophic Lateral Sclerosis Endophenotypes

OBJECTIVE: Until recently, riluzole was the only drug licensed for amyotrophic lateral sclerosis (ALS). In spite of its efficacy, the mechanism of action remains elusive, and both blocking of glutamate release and antioxidant properties have been postulated. Here we characterized human SH-SY5Y neuroblastoma cell lines, taking advantage of their insensitivity to excitotoxic insults, in order to selectively assess the presence of a direct antioxidant effect of riluzole. METHODS: SH-SY5Y cells, either parental or overexpressing the G93A SOD1 mutation, were exposed for 24 hours to the selected stimuli. RESULTS: Riluzole (1–10 μM) was able to counteract the effects of H₂O₂ exposure (200 μM/24 hr), limiting both cell death and whole-cell reactive oxygen species (ROS) increase. The same experiments were repeated using SH-SY5Y cells carrying the familial ALS-related G93A-SOD1 mutation and constitutively expressing two-fold increased whole-cell ROS levels with respect to wild-type cells: riluzole was ineffective in this paradigm. Analogously, riluzole was ineffective in preventing cell death induced by exposing SH-SY5Y cells to 3-morpholino-sydnonimine (SIN-1, 1.5 mM/24 hr), a reactive nitrogen species (RNS) donor. CONCLUSION: Our data support a direct antioxidant action of riluzole. Furthermore, the lack of efficacy of riluzole observed in the SOD1 cell model mirrors the lack of efficacy already demonstrated in cognate mouse models of ALS, plausibly reflecting differences in the underlying pathogenic mechanisms. Finally, riluzole inefficacy against nitrosative stress might support the idea that a combined therapeutic intervention may result more effective in ALS patients, as in the case of co-administration of edaravone, a drug known to reduce RNS.

Characterization of neurological soft signs in a Brazilian sample of stable patients with schizophrenia / Caracterização de sinais neurológicos sutis em uma amostra brasileira de pacientes estáveis com esquizofrenia

Abstract Introduction: Neurological soft signs (NSS) have been considered one of the target features and a potential endophenotype for schizophrenia. The present study aimed to characterize NSS in a sample of patients with chronic schizophrenia and to compare them with healthy control individuals. Methods: In this study, we evaluated the presence of NSS in a sample of stable patients (n = 24) diagnosed with schizophrenia according to DSM-IV criteria, recruited at the Schizophrenia Outpatient Clinic of Instituto Raul Soares, Belo Horizonte, state of Minas Gerais, southeastern Brazil. Assessment was made with the Brief Motor Scale (BMS), and extrapyramidal symptoms (EPS) were evaluated with the Simpson-Angus Scale (SAS) and the Abnormal Involuntary Movement Scale (AIMS). A control group (n = 21) was also submitted to the same battery of tests. Results: We observed a significant difference in relation to BMS and SAS scores (p < 0.0001), revealing that individuals with schizophrenia present more NSS and EPS than healthy ones. BMS total scores correlated positively with SAS scores (r = 0.495, p = 0.014), but not with AIMS scores, indicating that NSS could be influenced by the intensity of EPS. Nevertheless, we observed that this relationship remained only for motor coordination tasks (r = 0.550, p = 0.005), while motor sequencing tasks were not influenced by EPS (r = 0.313, p = 0.136). Conclusion: The results suggest that NSS are more frequent in patients with schizophrenia and that motor sequencing tasks could be more specific to the syndrome.

Resumo Introdução: Sinais neurológicos sutis (SNS) têm sido considerados características básicas e potenciais endofenótipos na esquizofrenia. O presente estudo procurou caracterizar os SNS em uma amostra de pacientes com esquizofrenia crônica e compará-los com indivíduos controles saudáveis. Métodos: Neste estudo, avaliamos a presença de SNS em uma amostra de pacientes estáveis (n = 24) com o diagnóstico de esquizofrenia de acordo com os critérios do DSM-IV, recrutados no Ambulatório de Esquizofrenia do Instituto Raul Soares, Belo Horizonte, MG, Brasil. A avaliação foi realizada com a Escala Motora Breve (BMS) e sinais extrapiramidais (SEP) foram observados com a Escala de Simpson-Angus (SAS) e a Escala de Movimentos Involuntários Anormais (AIMS). Um grupo controle (n = 21) também foi submetido à mesma bateria de testes. Resultados: Observamos uma diferença significativa em relação aos escores da BMS e da SAS (p < 0,0001), revelando que indivíduos com esquizofrenia apresentam mais SNS e SEP que indivíduos saudáveis. Os escores da BMS se correlacionaram positivamente com os da SAS (r = 0,495, p = 0,014), mas não com os da AIMS, indicando que os SNS podem ser influenciados pela intensidade de SEP. No entanto, observamos que essa relação permaneceu somente para as tarefas de coordenação motora (r = 0,550, p = 0,005), enquanto as tarefas de sequenciamento motor não foram influenciadas pelos SEP (r = 0,313, p = 0,136). Conclusão: Os resultados sugerem que os SNS são mais frequentes em pacientes com esquizofrenia e que tarefas de sequenciamento motor podem ser mais específicas na síndrome.

Comparison of Cognitive Controls in Patients with Bipolar I Disorder and Their Unaffected First-Degree Relatives

OBJECTIVES: This study intended to identify the deficits of cognitive control among patients with bipolar I disorder and their first-degree relatives, and identify the possibility of cognitive control as an endophenotype of bipolar disorder. METHODS: The study included three groups: euthymic states patients with bipolar I disorder (n = 55), unaffected first-degree relatives of probands with bipolar I disorder (n = 30), and a healthy control group (n = 51), that was matched on age, sex, and years of education. The AX version of the continuous performance test (CPT) was used to examine cognitive control. Error rate, correct response times of each subsets (AX, BX, AY, BY), and d' as an indication of accuracy sensitivity index were calculated. Psychopathology, intelligence, and psychomotor speed were also assessed. RESULTS: Patients with bipolar I disorder showed significantly worse error rates in the AX (p = 0.01) and BX (p = 0.02) subsets and d' (p = 0.05) than the others. They also showed more delayed correct response times than the healthy control group and first-degree relatives in all subsets (p < 0.01). But first-degree relatives showed neither high error rates nor delayed correct response times than healthy control group. CONCLUSIONS: These findings suggest that cognitive control is impaired in bipolar I disorder but less likely to be an endophynotype of bipolar I disorder.

Association Analysis between Chromogranin B Genetic Variations and Smooth Pursuit Eye Movement Abnormality in Korean Patients with Schizophrenia

OBJECTIVES: According to previous studies, the Chromogranin B (CHGB) gene could be an important candidate gene for schizophrenia which is located on chromosome 20p12.3. Some studies have linked the polymorphism in CHGB gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. METHODS: We measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. RESULTS: The natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was 4.19 ± 0.19 and that of poor SPEM function group was 3.17 ± 0.65. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). CONCLUSIONS: Despite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.

Neurocognitive Graphs of First-Episode Schizophrenia and Major Depression Based on Cognitive Features / 神经科学通报·英文版

Neurocognitive deficits are frequently observed in patients with schizophrenia and major depressive disorder (MDD). The relations between cognitive features may be represented by neurocognitive graphs based on cognitive features, modeled as Gaussian Markov random fields. However, it is unclear whether it is possible to differentiate between phenotypic patterns associated with the differential diagnosis of schizophrenia and depression using this neurocognitive graph approach. In this study, we enrolled 215 first-episode patients with schizophrenia (FES), 125 with MDD, and 237 demographically-matched healthy controls (HCs). The cognitive performance of all participants was evaluated using a battery of neurocognitive tests. The graphical LASSO model was trained with a one-vs-one scenario to learn the conditional independent structure of neurocognitive features of each group. Participants in the holdout dataset were classified into different groups with the highest likelihood. A partial correlation matrix was transformed from the graphical model to further explore the neurocognitive graph for each group. The classification approach identified the diagnostic class for individuals with an average accuracy of 73.41% for FES vs HC, 67.07% for MDD vs HC, and 59.48% for FES vs MDD. Both of the neurocognitive graphs for FES and MDD had more connections and higher node centrality than those for HC. The neurocognitive graph for FES was less sparse and had more connections than that for MDD. Thus, neurocognitive graphs based on cognitive features are promising for describing endophenotypes that may discriminate schizophrenia from depression.

Brain Theranostics and Radiotheranostics: Exosomes and Graphenes In Vivo as Novel Brain Theranostics / 대한핵의학회잡지

Brain disease is one of the greatest threats to public health. Brain theranostics is recently taking shape, indicating the treatments of stroke, inflammatory brain disorders, psychiatric diseases, neurodevelopmental disease, and neurodegenerative disease. However, several factors, such as lack of endophenotype classification, blood-brain barrier (BBB), target determination, ignorance of biodistribution after administration, and complex intercellular communication between brain cells, make brain theranostics application difficult, especially when it comes to clinical application. So, a more thorough understanding of each aspect is needed. In this review, we focus on recent studies regarding the role of exosomes in intercellular communication of brain cells, therapeutic effect of graphene quantum dots, transcriptomics/epitranscriptomics approach for target selection, and in vitro/in vivo considerations.

Comparison of Cognitive Control Deficits in Patients with Schizophrenia and Their Unaffected First-Degree Relatives / 신경정신의학

OBJECTIVES: This study aimed to identify the differences in the profiles of cognitive control deficits among schizophrenic patients and endophenotypes. METHODS: The study examined three groups: remitted patients with schizophrenia (n=54), unaffected first-degree relatives of the probands with schizophrenia (n=36), and a healthy control group (n=51), which were all matched for age, sex, and years of education. The AX version of the continuous performance test was used to examine cognitive control. The error rate, correct response times of each subset (AX, BX, AY, BY), and d′ as an indication of the accuracy sensitivity index were calculated. The psychopathology, intelligence, and psychomotor speed were also assessed. RESULTS: Patients with schizophrenia showed significantly poorer error rates and d′ in the AX and BX subsets than the others. They showed more delayed correct response times than the healthy control group in all subsets. The first-degree relatives also showed more delayed correct response times in the BX and AY subsets than the healthy control group, but were similar to the patients. CONCLUSION: These findings suggest that cognitive control is impaired in schizophrenia and endophynotypes possibly share this delayed information processing from the higher loading states of cognitive control.

Comparing Intelligence Test Profiles to Assess Tourette's Disorder with Attention-Deficit Hyperactivity Disorder

OBJECTIVES: The study compared the intelligence test profiles of Tourette's Disorder (TD), attention-deficit hyperactivity disorder (ADHD), and TD with ADHD (TD+ADHD) groups. METHODS: The Korean Wechsler Intelligence Scale for Children-third edition (K-WISC-III) and Korean Wechsler Intelligence Scale for Children-fourth edition (K-WISC-IV) were administered to 13 children and adolescents with TD, 17 children and adolescents with ADHD, and 15 children and adolescents with TD+ADHD. Each parameter was compared among the groups using the Kruskal-Wallis test. RESULTS: The mean scores of the freedom from distractibility/working memory index (FD/WMI) and the digit span and arithmetic subtests of the TD+ADHD group were significantly lower than those of the TD group. CONCLUSION: According to the intelligence test results, the comorbid ADHD+TD group showed a significant decrease in working memory compared to the TD group. These findings are similar to those of previous research on cognitive functions and suggest that the TD+ADHD comorbid and TD alone groups exhibit different endophenotypes. The results also imply that WISC-III and WISC-IV, the most commonly used intelligence tests clinically, are effective in evaluating cognitive functions such as attention. Further research is required to confirm these results.

Alterations of Cortical Folding Patterns in Patients with Bipolar I Disorder: Analysis of Local Gyrification Index

OBJECTIVES: Local gyrification reflects the early neural development of cortical connectivity, and is regarded as a potential neural endophenotype in psychiatric disorders. Several studies have suggested altered local gyrification in patients with bipolar I disorder (BD-I). The purpose of the present study was to investigate the alterations in the cortical gyrification of whole brain cortices in patients with BD-I. METHODS: Twenty-two patients with BD-I and age and sex-matched 22 healthy controls (HC) were included in this study. All participants underwent T1-weighted structural magnetic resonance imaging (MRI). The local gyrification index (LGI) of 66 cortical regions were analyzed using the FreeSurfer (Athinoula A. Martinos Center for Biomedical Imaging). One-way analysis of covariance (ANCOVA) was used to analyze the difference of LGI values between two groups adjusting for age and sex as covariates. RESULTS: The patients with BD-I showed significant hypogyria in the left pars opercularis (uncorrected-p = 0.049), the left rostral anterior cingulate gyrus (uncorrected-p = 0.012), the left caudal anterior cingulate gyrus (uncorrected-p = 0.033). However, these findings were not significant after applying the multiple comparison correction. Severity or duration of illness were not significantly correlated with LGI in the patients with BD-I. CONCLUSIONS: Our results of lower LGI in the anterior cingulate cortex and the ventrolateral prefrontal cortex in the BD-I group implicate that altered cortical gyrification in neural circuits involved in emotion-processing may contribute to pathophysiology of BD-I.

Cognitive performance and psychosocial functioning in patients with bipolar disorder, unaffected siblings, and healthy controls

Objective: To assess cognitive performance and psychosocial functioning in patients with bipolar disorder (BD), in unaffected siblings, and in healthy controls. Methods: Subjects were patients with BD (n=36), unaffected siblings (n=35), and healthy controls (n=44). Psychosocial functioning was accessed using the Functioning Assessment Short Test (FAST). A sub-group of patients with BD (n=21), unaffected siblings (n=14), and healthy controls (n=22) also underwent a battery of neuropsychological tests: California Verbal Learning Test (CVLT), Stroop Color and Word Test, and Wisconsin Card Sorting Test (WCST). Clinical and sociodemographic characteristics were analyzed using one-way analysis of variance or the chi-square test; multivariate analysis of covariance was used to examine differences in neuropsychological variables. Results: Patients with BD showed higher FAST total scores (23.90±11.35) than healthy controls (5.86±5.47; p < 0.001) and siblings (12.60±11.83; p 0.001). Siblings and healthy controls also showed statistically significant differences in FAST total scores (p = 0.008). Patients performed worse than healthy controls on all CVLT sub-tests (p < 0.030) and in the number of correctly completed categories on WCST (p = 0.030). Siblings did not differ from healthy controls in cognitive tests. Conclusion: Unaffected siblings of patients with BD may show poorer functional performance compared to healthy controls. FAST scores may contribute to the development of markers of vulnerability and endophenotypic traits in at-risk populations.

Serum BDNF levels in unaffected first-degree relatives of patients with bipolar disorder

Objective: Unaffected relatives of bipolar disorder (BD) patients have been investigated for the identification of endophenotypes in an attempt to further elucidate the pathophysiology of the disease. Brain-derived neurotrophic factor (BDNF) is considered to be implicated in the pathophysiology of BD, but its role as an endophenotype has been poorly studied. We investigated abnormal serum BDNF levels in BD patients, in their unaffected relatives, and in healthy controls. Methods: BDNF levels were obtained from 25 DSM-IV bipolar I disorder patients, 23 unaffected relatives, and 27 healthy controls. All BD patients were in remission. The unaffected subjects were first-degree relatives of the proband who had no lifetime DSM-IV diagnosis of axis I disorder. BDNF serum levels were determined by sandwich ELISA using monoclonal BDNF-specific antibodies. Results: There were no statistical differences in BDNF levels among BD patients, relatives, and healthy controls. Conclusion: Serum BDNF levels may not indicate high genetic risk for BD, possibly acting as state markers rather than trait markers of the disease.

Associação entre predição para lesão por pressão e marcadores bioquímicos / Association between pressure injury prediction and biochemical markers

Verificar a associação da predição de lesão por pressão com os níveis de albumina, hematócrito ehemoglobina. Métodos: estudo documental, desenvolvido em uma Unidade de Terapia Intensiva para Adultoscom prontuários de pacientes elegíveis (n=255). Foram extraídas variáveis de caracterização sociodemográficae clínica, desenvolvimento de lesão por pressão e região; escore da escala de Braden e resultados dosmarcadores bioquímicos. Fez-se análise estatística descritiva e inferencial, adotando-se nível de significânciade 5,0%. Resultados: houve prevalência do sexo masculino (64,7%) e de pacientes cirúrgicos (69,8%). Nãohouve associação estatística significativa entre os marcadores de hematócrito e hemoglobina com a prediçãode lesão por pressão, diferentemente dos níveis de albumina (p=0,023). Conclusão: há associação de prediçãode lesão por pressão no que se refere à albumina. O aporte proteico do paciente deve ser visto com maior rigorpela equipe de saúde.

Objective: to verify the association of pressure injury prediction with albumin, hematocrit and hemoglobin levels. Methods: documentary study, developed in an Intensive Care Unit for Adults with records of eligible patients (n=255). Sociodemographic and clinical characterizations lesion, development of pressure injury and region; a score of the Braden scale and results of biochemical markers were extracted. There was a descriptive and inferential statistical analysis, adopting a significance level of 5.0%. Results: there was a prevalence of males (64.7%) and surgical patients (69.8%). There was no significant association between hematocrit and hemoglobin markers with the pressure injury prediction, unlike albumin levels (p=0.023). Conclusion: there is an injury pressure prediction association in the albumin. The protein intake of the patient should be seen in greater detail by the health team.

No Association between (AAT)n Repeat Polymorphisms in the Cannabinoid Receptor 1 Gene and Smooth Pursuit Eye Movement Abnormality in Korean Patients with Schizophrenia

OBJECTIVES: According to previous studies, the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. Some studies have linked the (AAT)n trinucleotide repeat polymorphism in CNR1 gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) has been regarded as one of the most consistent endophenotypes of schizophrenia. In this study, we investigated the association between the (AAT)n trinucleotide repeats in CNR1 gene and SPEM abnormality in Korean patients with schizophrenia. METHODS: We measured SPEM function in 167 Korean patients with schizophrenia (84 male, 83 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated allele frequencies of (AAT)n repeat polymorphisms on CNR1 gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of (AAT)n trinucleotide repeats. RESULTS: The natural logarithm value of signal/noise ratio (Ln S/N ratio) of the good SPEM function group was 4.34 ± 0.29 and that of the poor SPEM function group was 3.21 ± 0.70. In total, 7 types of trinucleotide repeats were identified, each containing 7, 10, 11, 12, 13, 14, and 15 repeats, respectively. In the patients with (AAT)₇ allele, the distributions of the good and poor SPEM function groups were 18 (11.1%) and 19 (11.0%) respectively. In the patients with (AAT)₁₀ allele, (AAT)₁₁ allele, (AAT)₁₂ allele, (AAT)₁₃ allele, (AAT)₁₄ allele and (AAT)₁₅ allele, the distributions of good and poor SPEM function groups were 13 (8.0%) and 12 (7.0%), 4 (2.5%) and 6 (3.5%), 31 (19.8%) and 35 (20.3%), 51 (31.5%) and 51 (29.7%), 36 (22.2%) and 45 (26.2%), 9 (5.6%) and 4 (2.3%) respectively. As the number of (AAT) n repeat increased, there was no aggravation of abnormality of SPEM function. CONCLUSIONS: There was no significant aggravation of SPEM abnormality along with the increase of number of (AAT)n trinucleotide repeats in the CNR1 gene in Korean patients with schizophrenia.

A Study of Neurological Soft Signs in Patients with Schizophrenia and Their Unaffected Siblings

OBJECTIVES: This study was conducted to investigate the possibility of neurological soft signs as an endophenotype for schizophrenia by examining neurological soft signs in patients, their unaffected siblings and normal comparison subjects. METHODS: The study sample consisted of 32 patients, 25 of their unaffected siblings and 30 normal comparison subjects. Neurological soft signs were evaluated using the Cambridge Neurological Inventory Part 2. soft sign assessment. RESULTS: The patients were significantly more impaired than normal comparison subjects (p = 0.047) on primitive reflex. The patients were significantly more impaired than siblings (p = 0.004) and normal comparison subjects (p = 0.021) on motor coordination. The siblings performed better on sensory integration than the patients (p = 0.020) and normal comparison subjects (p = 0.036). CONCLUSIONS: This study suggests that neurological soft signs might be a potential biomarker for schizophrenia, but might not be an endophenotype for schizophrenia.

Correlation between Quantitative Electroencephalogram Findings and Neurocognitive Functions in Patients with Obsessive-Compulsive Disorder and Schizophrenia

OBJECTIVES: Obsessive-compulsive disorder (OCD) and schizophrenia have many common clinical and neurocognitive features. However, not all of them share the same underlying mechanism. The aim of this study was to discover evidences that indicate a pathophysiological mechanism specific to OCD by comparing correlations of quantitative electroencephalography (QEEG) patterns and neurocognitive function in patients with OCD and schizophrenia. METHODS: Resting-state QEEG data of total 265 patients were acquired retrospectively and parameters such as absolute power, relative power and peak frequency were analyzed from the data. Stroop test and Trail Making Test results as well as demographic features were reviewed for this study. The correlation of neurocognitive functions and brain electrical activities in each group were assessed and compared by correlation analysis. RESULTS: Compared with the OCD group, the schizophrenia group performed poorly in neurocognitive tests. Mean values of QEEG parameters in patients with OCD and schizophrenia did not show significant differences. Both absolute and relative power of alpha rhythm in central and frontal regions showed significant positive correlation with Stroop test results in OCD patients. CONCLUSIONS: Findings in this study shows distinctive correlations between frontal executive dysfunction and frontal alpha rhythm in the OCD patients, both of which might be a candidate for endophenotype underlying obsessive rumination.