Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.

BACKGROUND: Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the SLC5A7 gene, which encodes the sodium-dependent HC-3 high-affinity choline transporter 1 (CHT1). To our knowledge there are no published cases of this CMS type in Latin America. CASE PRESENTATION: We present two cases of CHT1-CMS. Both patients were males presenting with repeated episodes of apnea, hypotonia, weakness, ptosis, mild ophthalmoparesis, and bulbar deficit. The first case also presented one isolated seizure, while the second case showed global developmental delay. Both cases, exhibited incomplete improvement with treatment with pyridostigmine. CONCLUSIONS: This report emphasizes the broad incidence of CMS with episodic apnea caused by mutations in the SLC5A7 gene and the frequent association of this condition with serious manifestations of central nervous system involvement.

Episodic memory improvement in illiterate adults attending late-life education irrespective of low socioeconomic status: insights from the PROAME study.

The majority of people with dementia live in low or middle-income countries (LMICs) where resources that play a crucial role in brain health, such as quality education, are still not widely available. In Brazil, illiteracy remains a prevalent issue, especially in communities with lower socioeconomic status (SES). The PROAME study set out to explore basic education in illiterate adults as a means to improve cognitive reserve. Objective: This manuscript aims to explore the relationship between SES and learning, as well as cognitive outcomes, in an older illiterate population. Methods: This six-month clinical trial (NCT04473235) involved 108 participants, of which 77 concluded all assessments, enrolled in late-life basic education. SES assessments included Quality of Urban Living Index, Municipal Human Development Index and Household SES calculated for each participant. Cognitive assessments encompassed the Free and Cued Selective Reminding Test (FCSRT), a word list to assess reading, and the Beta III matrix. Results: The sample consisted primarily of women, with a mean age of 58.5. Participants improved their reading (p=0.01) and their FCSRT (p=0.003). Regarding episodic memory, women outperformed men (p=0.007) and younger participants improved more than their older counterparts (p=0.001). There was no association observed between SES and cognitive outcomes. Conclusion: Irrespective of SES, participants demonstrated positive outcomes after attending basic education. These findings highlight that late life education could be an important non-pharmacologic preventative measure, especially in LMICs.

A maioria das pessoas com demência vive em países de baixa/média renda, onde recursos essenciais para a saúde cerebral, como educação de qualidade, ainda não são amplamente acessíveis. No Brasil, o analfabetismo ainda é frequente, especialmente em comunidades de baixo nível socioeconômico. O estudo PROAME teve como objetivo explorar a educação básica tardia em pessoas analfabetas como ferramenta para o aumento da reserva cognitiva. Objetivo: Investigar a relação entre nível socioeconômico com aprendizado e com desempenho em testes cognitivos, em adultos analfabetos. Métodos: Este estudo clínico de seis meses (NCT04473235) contou com 108 participantes inscritos no projeto Educação para Jovens e Adultos (EJA), dos quais 77 completaram os testes. O nível socioeconômico de cada participante foi medido usando-se: o Índice de Qualidade de Vida Urbana, o Índice de Desenvolvimento Humano Municipal e o nível socioeconômico doméstico. Avaliações cognitivas incluíram: o Teste de Recordação Seletiva Livre e Guiada (TRSLG), uma lista de palavras para avaliar leitura e a matriz Beta III. Resultados: A amostra era predominantemente feminina, com idade média de 58,5. Os participantes melhoraram a leitura (p=0,01) e o TRSLG (p=0,003). Com relação à memoria episódica, as mulheres tiveram resultados superiores aos dos homens (p=0,007) e participantes mais jovens melhoraram mais que seus colegas mais velhos (p=0,001). Não foi observada nenhuma relação entre o nível socioeconômico e o desempenho cognitivo. Conclusão: Independentemente do nível socioeconômico, participantes obtiveram resultados positivos após frequentar a educação básica. Isso sugere que a educação tardia pode ser uma medida preventiva não farmacológica importante, especialmente em países de baixa/média renda.

Unexpected cognitive similarities between older adults and young people: Scores variability and cognitive performances.

BACKGROUND: Increased interindividual variability in cognitive performance during aging has been proposed as an indicator of cognitive reserve. OBJECTIVE: To determine if interindividual variability performance in episodic memory (PAL), working memory (SWM), reaction time (RTI), and sustained attention (RVP) could differentiate clusters of differential cognitive performance in healthy young and older adults and search for cognitive tests that most contribute to these differential performances. METHODS: We employed hierarchical cluster and canonical discriminant function analyses of cognitive scores using the Cambridge Neuropsychological Test Automated Battery (CANTAB) to identify cognitive variability in older and young adults using the coefficient of variability of cognitive performances between and within groups. We also analyzed potential influences of age, education, and physical activity. RESULTS: Cluster analysis distinguished groups with differential cognitive performance and correlation analysis revealed coefficient of variability and cognitive performance associations. The greater the coefficient of variability the poorer was cognitive performance in RTI but not in PAL and SWM. Older adults showed diverse trajectories of cognitive decline, and better education or higher percentage of physically active individuals exhibited better cognitive performance in both older and young adults. CONCLUSION: PAL and SWM are the most sensitive tests to investigate the wide age range encompassing older and young adults. In older adults' intragroup analysis PAL showed greater discriminatory capacity, indicating its potential for clinical applications late in life. Our data underscore the importance of studying variability as a tool for early detection of subtle cognitive declines and for interpreting results that deviate from normality.

Episodic memory improvement in illiterate adults attending late-life education irrespective of low socioeconomic status: insights from the PROAME study / Melhoria da memória episódica em adultos analfabetos que frequentam educação tardia, independentemente do baixo nível socioeconômico: considerações do estudo PROAME

ABSTRACT The majority of people with dementia live in low or middle-income countries (LMICs) where resources that play a crucial role in brain health, such as quality education, are still not widely available. In Brazil, illiteracy remains a prevalent issue, especially in communities with lower socioeconomic status (SES). The PROAME study set out to explore basic education in illiterate adults as a means to improve cognitive reserve. Objective: This manuscript aims to explore the relationship between SES and learning, as well as cognitive outcomes, in an older illiterate population. Methods: This six-month clinical trial (NCT04473235) involved 108 participants, of which 77 concluded all assessments, enrolled in late-life basic education. SES assessments included Quality of Urban Living Index, Municipal Human Development Index and Household SES calculated for each participant. Cognitive assessments encompassed the Free and Cued Selective Reminding Test (FCSRT), a word list to assess reading, and the Beta III matrix. Results: The sample consisted primarily of women, with a mean age of 58.5. Participants improved their reading (p=0.01) and their FCSRT (p=0.003). Regarding episodic memory, women outperformed men (p=0.007) and younger participants improved more than their older counterparts (p=0.001). There was no association observed between SES and cognitive outcomes. Conclusion: Irrespective of SES, participants demonstrated positive outcomes after attending basic education. These findings highlight that late life education could be an important non-pharmacologic preventative measure, especially in LMICs.

RESUMO A maioria das pessoas com demência vive em países de baixa/média renda, onde recursos essenciais para a saúde cerebral, como educação de qualidade, ainda não são amplamente acessíveis. No Brasil, o analfabetismo ainda é frequente, especialmente em comunidades de baixo nível socioeconômico. O estudo PROAME teve como objetivo explorar a educação básica tardia em pessoas analfabetas como ferramenta para o aumento da reserva cognitiva. Objetivo: Investigar a relação entre nível socioeconômico com aprendizado e com desempenho em testes cognitivos, em adultos analfabetos. Métodos: Este estudo clínico de seis meses (NCT04473235) contou com 108 participantes inscritos no projeto Educação para Jovens e Adultos (EJA), dos quais 77 completaram os testes. O nível socioeconômico de cada participante foi medido usando-se: o Índice de Qualidade de Vida Urbana, o Índice de Desenvolvimento Humano Municipal e o nível socioeconômico doméstico. Avaliações cognitivas incluíram: o Teste de Recordação Seletiva Livre e Guiada (TRSLG), uma lista de palavras para avaliar leitura e a matriz Beta III. Resultados: A amostra era predominantemente feminina, com idade média de 58,5. Os participantes melhoraram a leitura (p=0,01) e o TRSLG (p=0,003). Com relação à memoria episódica, as mulheres tiveram resultados superiores aos dos homens (p=0,007) e participantes mais jovens melhoraram mais que seus colegas mais velhos (p=0,001). Não foi observada nenhuma relação entre o nível socioeconômico e o desempenho cognitivo. Conclusão: Independentemente do nível socioeconômico, participantes obtiveram resultados positivos após frequentar a educação básica. Isso sugere que a educação tardia pode ser uma medida preventiva não farmacológica importante, especialmente em países de baixa/média renda.

Indagações sobre experiência de quase morte, memória episódica e o psicóide na visão da psicología / Inquiries about near-death experiences, episodic memory and the psychoid from the view of analytical

Busca-se discutir a relação da Experiência de Quase Morte (EQM) a partir dos conceitos junguianos, particularmentea Individuação e a Espiritualidade. Pretende-se ainda, explorar possíveis relações entre a memória da EQM e Neuropsicologia, analisando o arquétipo psicóide e possíveis relações entre ele e a memória episódica, procurando-se possibilidades viáveis de pesquisas exploratórias que possam trazer maiores esclarecimentos na relação entre a experiência de quase morte, o conceito do psicóide da Psicologia analítica de C. G. Jung e a memória episódica tratada em neuropsicologia AU

We seek to discuss the relationship of the Near Death Experience (NDE) from the Jungian concepts, particularly Individuation and Spirituality. It is also intended to explore possible relationships between NDE memory and Neuropsychology, analyzing the psychoid archetype and possible relationships between it and episodic memory, looking for viable possibilities for exploratory research that can bring further clarification on the relationship between the experience of almost death, the psychoid concept from C. G. Jung's Analytical Psychology and the episodic memory treated in neuropsychology AU

Cognitive impairment in post-acute COVID-19 syndrome: a scoping review / Comprometimento cognitivo na síndrome pós-COVID-19 aguda: uma revisão de escopo

Abstract Emerging studies indicate the persistence of symptoms beyond the acute phase of COVID-19. Cognitive impairment has been observed in certain individuals for months following infection. Currently, there is limited knowledge about the specific cognitive domains that undergo alterations during the post-acute COVID-19 syndrome and the potential impact of disease severity on cognition. The aim of this review is to examine studies that have reported cognitive impairment in post-acute COVID-19, categorizing them into subacute and chronic phases. The methodology proposed by JBI was followed in this study. The included studies were published between December 2019 and December 2022. The search was conducted in PubMed, PubMed PMC, BVS - BIREME, Embase, SCOPUS, Cochrane, Web of Science, Proquest, PsycInfo, and EBSCOHost. Data extraction included specific details about the population, concepts, context, and key findings or recommendations relevant to the review objectives. A total of 7,540 records were identified and examined, and 47 articles were included. The cognitive domains most frequently reported as altered 4 to 12 weeks after acute COVID-19 were language, episodic memory, and executive function, and after 12 weeks, the domains most affected were attention, episodic memory, and executive function. The results of this scoping review highlight that adults with post-acute COVID-19 syndrome may have impairment in specific cognitive domains.

Resumo Estudos emergentes indicam a persistência dos sintomas além da fase aguda da COVID-19. O comprometimento cognitivo foi observado em alguns indivíduos durante meses após a infecção. Atualmente, há pouco conhecimento sobre os domínios cognitivos específicos que sofrem alterações durante a síndrome pós-aguda da COVID-19 e o possível impacto da gravidade da doença na cognição. O objetivo desta revisão é examinar estudos que relataram comprometimento cognitivo na COVID-19 pós-aguda, categorizando-os em fases subaguda e crônica. A metodologia proposta pela Joanna Briggs Institute foi seguida neste estudo. Os estudos incluídos foram publicados entre dezembro de 2019 e dezembro de 2022. A busca foi realizada no PubMed, PubMed PMC, BVS - BIREME, Embase, SCOPUS, Cochrane, Web of Science, Proquest, PsycInfo e EBSCOHost. A extração de dados incluiu detalhes específicos sobre a população, os conceitos, o contexto e as principais descobertas ou recomendações relevantes para os objetivos da revisão. Um total de 7.540 registros foi identificado e examinado, e 47 artigos foram incluídos. Os domínios cognitivos mais frequentemente relatados como alterados de 4 a 12 semanas após a COVID-19 aguda foram linguagem, memória episódica e função executiva e, após 12 semanas, os domínios mais afetados foram atenção, memória episódica e função executiva. Os resultados dessa revisão de escopo destacam que adultos com síndrome pós-aguda da COVID-19 podem apresentar comprometimento em domínios cognitivos específicos.

Resveratrol Reduces Neuroinflammation and Hippocampal Microglia Activation and Protects Against Impairment of Memory and Anxiety-Like Behavior in Experimental Cerebral Palsy.

Cerebral palsy (CP) is a neurodevelopmental disorder characterized by motor and postural impairments. However, early brain injury can promote deleterious effects on the hippocampus, impairing memory. This study aims to investigate the effects of resveratrol treatment on memory, anxiety-like behavior, and neuroinflammation markers in rats with CP. Male Wistar rats were subjected to perinatal anoxia (P0-P1) and sensory-motor restriction (P2-P28). They were treated with resveratrol (10 mg/kg, 0.1 ml/100 g) or saline from P3-P21, being divided into four experimental groups: CS (n = 15), CR (n = 15), CPS (n = 15), and CPR (n = 15). They were evaluated in the tests of novel object recognition (NORT), T-Maze, Light-Dark Box (LDB), and Elevated Plus Maze (EPM). Compared to the CS group, the CPS group has demonstrated a reduced discrimination index on the NORT (p < 0.0001) and alternation on the T-Maze (p < 0.01). In addition, the CPS group showed an increase in permanence time on the dark side in LDB (p < 0.0001) and on the close arms of the EPM (p < 0.001). The CPR group demonstrated an increase in the object discrimination index (p < 0.001), on the alternation (p < 0.001), on the permanence time on the light side (p < 0.0001), and on the open arms (p < 0.001). The CPR group showed a reduction in gene expression of IL-6 (p = 0.0175) and TNF-α (p = 0.0007) and an increase in Creb-1 levels (p = 0.0020). The CPS group showed an increase in the activated microglia and a reduction in cell proliferation in the hippocampus, while CPR animals showed a reduction of activated microglia and an increase in cell proliferation. These results demonstrate promising effects of resveratrol in cerebral palsy behavior impairment through reduced neuroinflammation in the hippocampus.

Memory rehabilitation during the COVID-19 pandemic.

BACKGROUND: Loss of cognitive and executive functions is a problem that affects people of all ages. That is why it is important to perform exercises for memory training and prevent early cognitive deterioration. The aim of this work was to compare the cognitive performance of the participants after an intervention by using two mnemonic techniques to exercise memory functions (paired-associate learning and method of loci). METHODS: A longitudinal study was conducted with 21 healthy participants aged 18 to 55 years over a 2-month period. To assess the impact of this proposal, the NEUROPSI brief battery cognitive assessment test was applied before and after the intervention. In each session, a previous cognitive training was carried out using the paired-associate learning technique, to later perform a task based on the loci method, all from a smart device-based application. The accuracy response and reaction times were automatically collected in the app. RESULTS: After the intervention, a statistically significant improvement was obtained in the neuropsychological assessment (NEUROPSI neuropsychological battery) reflected by the Wilcoxon paired signed-rank test (P < .05). CONCLUSION: The task based on the method of loci also reflected the well-known age-related effects common to memory assessment tasks. Episodic memory training using the method of loci can be successfully implemented using a smart device app. A stage-based methodological design allows to acquire mnemic skills gradually, obtaining a significant cognitive improvement in a short period of time.

One-week sleep hygiene education improves episodic memory in young but not in older adults during social isolation.

Memory formation is a dynamic process that comprises different phases, such as encoding, consolidation and retrieval. It could be altered by several factors such as sleep quality, anxiety, and depression levels. In the last years, due to COVID-19 pandemic, there was a reduction in sleep quality, an increase in anxiety and depressive symptoms as well as an impairment in emotional episodic memory encoding, especially in young adults. Taking into account the profound impact of sleep quality in daily life a series of rules has been developed that are conducive to consistently achieving good sleep, known as sleep hygiene education. These interventions have been shown to be effective in improving sleep quality and duration and reducing depressive and anxiety symptoms. Here we propose the implementation of a brief sleep hygiene education to improve sleep quality and memory performance as well as to diminish anxiety and depressive scores. For that, participants were divided into two groups: Sleep hygiene education and control group. After that, they were evaluated for anxiety, depression, and sleep quality levels and trained on an episodic memory task. They were tested immediately after (short-term test) and also 1 week later (long-term test). This procedure was also performed before the sleep hygiene education and was taken as baseline level. We found that episodic memory performance for young adults improved for the SHE group after intervention but not for older adults, and no improvements in emotional variables were observed. Despite not observing a significant effect of the intervention for young and older adults regarding the sleep quality scores, we consider that there may be an improvement in sleep physiology that is not subjectively perceived, but would also have a positive impact on memory processes. These results show that even a sleep hygiene education of 1 week could improve cognition in young adults when acute memory and sleep impairment occurs, in this case, due to the isolation by COVID-19 pandemic. However, we suggest that longer interventions should be implemented for older adults who already experience a natural decline in cognitive processes such as episodic memory formation.

Implications of Physical Exercise on Episodic Memory and Anxiety: The Role of the Serotonergic System.

There is a growing interest in investigating the effects of physical exercise on cognitive performance, particularly episodic memory. Similarly, an increasing number of studies in recent decades have studied the effects of physical activity on mood and anxiety disorders. Moreover, the COVID-19 pandemic has raised awareness of the importance of regular physical activity for both mental and physical health. Nevertheless, the exact mechanisms underlying these effects are not fully understood. Interestingly, recent findings suggest that the serotonergic system may play a key role in mediating the effects of physical exercise on episodic memory and anxiety. In this review, we discuss the impact of physical exercise on both episodic memory and anxiety in human and animal models. In addition, we explore the accumulating evidence that supports a role for the serotonergic system in the effects of physical exercise on episodic memory and anxiety.

Methylation of BDNF gene in association with episodic memory in women.

Brain-derived neurotrophic factor (BDNF) gene regulation plays an important role in long-term memory formation, and the DNA methylation (DNAm) level of BDNF promoters has been associated with episodic memory deficits. Our aim was to explore the association between DNAm levels in BDNF promoter IV with verbal learning and memory performance in healthy women. We conducted a cross-sectional study by recruiting 53 individuals. Episodic memory was assessed by using the Rey Auditory Verbal Learning Test (RAVLT). Clinical interviews, RAVLT, and blood sample collection were assessed in all participants. DNAm was measured on DNA from whole peripheral blood using pyrosequencing. According to generalized linear model (GzLM) analyses, cytosine guanine dinucleotide (CpG) site 5 showed significant associations between learning capacity (LC, p < 0.035), that is, every 1% of DNA methylation at CpG site 5 results in a 0.068 reduction in verbal learning performance. To the best of our knowledge, the current study is the first to show that BDNF DNAm plays an important role in episodic memory.

Evaluating effects of IBEM-U on decreasing alcohol consumption and heavy episodic drinking among university students in Colombia: Protocol for a randomized control trial.

Background: Alcohol misuse is a serious problem among university students in Colombia as well as in other Latin American countries. Studies show consistently that this population presents the highest rates of alcohol use. Despite such a situation, there is a lack of preventive programs for university students in this region of the world. The purpose of this paper is to present the protocol to evaluate a preventive strategy called IBEM-U, based on Motivational Interviewing and the I-Change Model. Method: This protocol shows how the evaluation of the effectiveness of the IBEM-U program will be carried out. A randomized control trial with a within-subjects design with one follow-up at six months after the post-test will be implemented. The comparison group will receive an alternative program similar in length but focusing on another issue. Around 1000 participants over 18 years of age, from at least six different universities around the country, will be recruited. Results: It is expected that the program will be effective in reducing past month alcohol consumption up to 15% in the experimental group as the main outcome. Secondary and tertiary outcomes include decreasing heavy episodic drinking and increasing knowledge, awareness, risk perception, attitude, self-efficacy, intention, and action planning, regarding heavy episodic drinking. Conclusion: IBEM-U can be considered a highly appropriate approach for reducing alcohol misuse among university students. The main reasons for these results are the self-imposed goals based on long-term purposes, that could be seriously affected by the ingestion of high amounts of alcohol.

Journeying to the past: time travel and mental time travel, how far apart?

Spatial models dominated memory research throughout much of the twentieth century, but in recent decades, the concept of memory as a form of mental time travel (MTT) to the past has gained prominence. Initially introduced as a metaphor, the MTT perspective shifted the focus from internal memory processes to the subjective conscious experience of remembering. Despite its significant impact on empirical and theoretical memory research, there has been limited discussion regarding the meaning and adequacy of the MTT metaphor in accounting for memory. While in previous work I have addressed the general limitations of the MTT metaphor in explaining memory, the objective of this article is more focused and modest: to gain a better understanding of what constitutes MTT to the past. To achieve this objective, a detailed analysis of the characteristics of MTT to the past is presented through a comparison with time travel (TT) to the past. Although acknowledging that TT does not refer to an existing physical phenomenon, it is an older concept extensively discussed in the philosophical literature and provides commonly accepted grounds, particularly within orthodox theories of time, that can offer insights into the nature of MTT. Six specific characteristics serve as points of comparison: (1) a destination distinct from the present, (2) the distinction between subjective time and objective time, (3) the subjective experience of the time traveler, (4) their differentiation from the past self, (5) the existence of the past, and (6) its unchangeability. Through this research, a detailed exploration of the phenomenal and metaphysical aspects of MTT to the past is undertaken, shedding light on the distinct features that mental time travel to the past acquires when it occurs within the realm of the mind rather than as a physical phenomenon. By examining these characteristics, a deeper understanding of the nature of mental time travel is achieved, offering insights into how it operates in relation to memory and the past.

The effectiveness and safety of cranial nerve block in migraine: a critical review / A eficácia e segurança do bloqueio de nervos cranianos na enxaqueca: uma revisão crítica

Cranial nerve blocks (CNBs) have been used for the acute and preventive treatment of a variety of headaches, including migraine. The effectiveness of CNBs in migraine is usually observed beyond the duration of the nerve block, possibly due to central pain modulation. The most used target is the greater occipital nerve. Other commonly targeted nerves are the lesser occipital nerve and various branches of the trigeminal nerve, including the supratrochlear, supraorbital, and auriculotemporal nerves. CNBs are generally safe and well-tolerated procedures that can be performed in either emergency or outpatient settings. There is currently no guideline standardizing CNBs in migraine. In clinical practice, as well as the few published studies, the results are encouraging, justifying further studies in the area. In the present study we critically review the literature about the safety and efficacy of CNBs in the treatment of migraine attacks and in the preventive treatment of migraine.

Bloqueios de nervos cranianos (BNCs) têm sido usados ​​para o tratamento agudo e preventivo de uma variedade de dores de cabeça, incluindo enxaqueca. A eficácia dos BNC na enxaqueca é geralmente observada além da duração do bloqueio nervoso, possivelmente devido à modulação central da dor. O alvo mais utilizado é o nervo occipital maior. Outros nervos comumente alvo são o nervo occipital menor e vários ramos do nervo trigêmeo, incluindo os nervos supratroclear, supraorbital e auriculotemporal. Os CNBs são geralmente procedimentos seguros e bem tolerados que podem ser realizados em ambientes de emergência ou ambulatoriais. Atualmente não há nenhuma diretriz padronizando BNCs na enxaqueca. Na prática clínica, assim como nos poucos estudos publicados, os resultados são animadores, justificando novos estudos na área. No presente estudo revisamos criticamente a literatura sobre a segurança e eficácia dos BNC no tratamento de crises de enxaqueca e no tratamento preventivo da enxaqueca.

Hipotermia episódica postraumática / Post-traumatic episodic hypothermia

Introducción: La regulación de temperatura es uno de los mecanismos de control vital de mayor importancia en el ser humano. Entre las causas de hipotermia se describe varias de origen neurológico y no neurológicas. En la mayoría de los casos de hipotermia que se desarrolla secundaria a trauma craneal, se trata de pacientes con daño neurológico severo mantenido pero se encuentran escasas descripciones relacionadas con trauma craneoencefálico leve o en pacientes sin otras secuelas importantes. Objetivo: Examinar un caso de hipotermia episódica postraumática sin afectaciones neurológicas asociadas y sin lesiones orgánicas demostradas. Presentación del caso: Paciente masculino, 14 años, antecedentes de salud. Sufre trauma de cráneo sin repercusión clínica aparente en ese momento. Una semana posterior al trauma comienza a presentar episodios de hipotermia nocturna de duración variable, autolimitados, siempre durante el sueño del paciente. Entre los episodios el paciente se mantiene asintomático. Examen físico normal. Estudios de neuroimagen sin alteración. Se indica reposo y tratamiento médico, primero con carbamazepina y luego con valproato de sodio. Actualmente el paciente muestra mejoría del cuadro, aunque no remisión completa de los episodios. Conclusiones: La hipotermia se relaciona con un elevado número de afecciones. La mayoría de los pacientes con trauma de cráneo que presentan hipotermia tienen asociados otros daños y presentan la afección de forma mantenida. Existen otros pacientes, como el caso presentado, sin lesiones orgánicas demostrables en estudios de imágenes que exteriorizan los trastornos de la termorregulación de forma recurrente con periodos de normalidad entre ellos.

Introduction: Temperature regulation corresponds to one of the most important vital control mechanisms in humans. Among the causes of hypothermia are described several of neurological and non-neurological origin. In most cases of hypothermia that develops secondary to cranial trauma described in literature, these are patients with sustained severe neurological damage but there are few descriptions related to mild cranioencephalic trauma or in patients without other important sequelae. Objective: To examine a case of post-traumatic episodic hypothermia without associated neurological affectations and without demonstrated organic lesions. Case presentation: Male patient, 14 years old, health history. He suffered from a cranial trauma with no apparent clinical repercussion at the time. A week after the trauma, episodes of nocturnal hypothermia of variable duration, self-limiting, always during the patient's sleep, begin to occur. Between episodes the patient remains asymptomatic. Normal physical exam. Neuroimaging studies without alteration. Rest and medical treatment are indicated first with carbamazepine and then with sodium valproate. Currently, the patient shows improvements but not complete remission of the episodes. Conclusions: Hypothermia is associated with a high number of conditions. Most patients with cranial trauma who present hypothermia have other associated damages and present hypothermia in a frequent manner, but there are other patients, such as the case presented, without comprobable organic lesions in imaging studies that present thermoregulation disorders on a recurrent basis with periods of normality between them.

Desarrollo y validación de una tarea experimental de Memoria Episódica verbal en español / Development and validation of an experimental verbal Episodic Memory task in Spanish

RESUMEN Propósito Elaborar y validar una tarea experimental de memoria episódica verbal en español. Método Se elaboraron seis bloques de codificación: tres profundos y tres superficiales, cado uno con distintas demandas de esfuerzo cognitivo. Los bloques fueron revisados por cuatro jueces expertos y examinados en una aplicación piloto. Se evaluó la concordancia respecto a si la tarea permitía manipular combinadamente el nivel de procesamiento y el esfuerzo cognitivo durante la codificación incidental de palabras, así como la claridad de las instrucciones, ejemplos y dinámica de trabajo. Resultados Variables como la disponibilidad léxica, metría y fuerza de asociación fueron útiles para diferenciar el esfuerzo cognitivo entre cada bloque. Los jueces concordaron que los bloques de procesamiento admiten una manipulación combinada del nivel de procesamiento y esfuerzo cognitivo y que las instrucciones son precisas. Luego del pilotaje, los participantes concordaron que las instrucciones, ejemplos y forma de trabajo eran fácil de comprender y realizar. Conclusión Los resultados proporcionan evidencia de validez relacionada con el contenido para la tarea experimental propuesta, transformándose con ello en una alternativa viable de considerar en investigaciones orientadas a identificar factores ambientales que contribuyan a compensar los defectos que muestra la memoria episódica con la edad.

ABSTRACT Purpose To develop and validate an experimental verbal episodic memory task in Spanish. Methods Six encoding blocks were elaborated, three deep and three superficial, each one with different demands of cognitive effort. The blocks were reviewed by four expert judges and tested in a pilot application. The agreement was assessed on whether the task allowed combined processing level and cognitive effort to be manipulated during incidental encoding of words, as well as clarity of instructions, examples, and workflow. Results Variables such as lexical availability, metrics, and strength of association were useful to differentiate the cognitive effort between each block. The judges agreed that the processing blocks allowed a combined manipulation of the level of processing and cognitive effort and that the instructions are precise. After the pilot, the participants agreed that the instructions, examples, and way of working were easy to understand and perform. Conclusion The results provide evidence of validity related to the content for the proposed experimental task, thus becoming a viable alternative to consider in research aimed at identifying environmental factors that contribute to compensating the defects shown by episodic memory with age.

Teoría de la Mente en pacientes Traumatizados Craneoencefálico

Antecedentes: Uno de los impedimentos más importantes en los traumatismos craneoencefálicos (TEC), revistan en las dificultades de interacción social, la Teoría de la Mente (ToM) es un factor fundamental de la cognición social, que permite una interacción satisfactoria del sujeto. Objetivo: Observar la capacidad de ToM en pacientes TEC moderado o severo, y su relación con dominios neurocognitivos. Método: Pacientes diagnosticados con TEC moderado o severo, evaluados neuropsicológicamente, edad 16 y 45 años, se aplicaron Test de la Mirada (TdlM) e Historias Extrañas (HT). Resultados: Se encontraron correlaciones entre TdlM y HT con memoria y funciones ejecutivas. Pacientes lesionados izquierdos, rinden significativamenie menos en HT. Conclusiones: Pacientes con TEC moderado o grave tienen una disminución de la capacidad de ToM. Existe una relación entre memoria episódica y ToM, podría deberse a que esta última requiere información a experiencias pasadas. Durante la infancia la ToM depende de la memoria episódica, pero cuando ambas se desarrollan adecuadamente, son independientes. Existe una relación entre funciones ejecutivas y ToM. Ambos constructos están vinculados en la infancia, pero luego comienzan a ser más independientes. Sin embargo, la ToM igualmente va a requerir de las funciones ejecutivas.

Background: One of the most important impediments in traumatic brain injuries (TBI), are the difficulties of social and family interaction. The Theory of Mind (ToM) is a fundamental factor of social cognition, which allows a satisfactory interaction of the individual with his environment. Objetive: To observe the ability of ToM in moderate or severe TBI patients, and its relationship with neurocognitive domains. Methods: Outpatients with diagnosis of moderate or severe TBI, evaluated neuropsychologically, age between 16 and 45 years, were applied Eyes Test (ET) and the Hinting task (HT). Results: Correlations were found between ET and HT with memory and executive functions. Injured left, perform significantly less in HT Patients with moderate or severe TBI have a decrease in ToM capacity. Conclusions: There is a relationship between episodic memory and ToM, which could be due to the latter 's need to request information from past experiences through episodic memory. During childhood ToM depends on episodic memory, but when both are achieved and developed properly, they are independent. There is a relationship between executive functions and ToM. Both constructs are linked in childhood, but then they begin to be more independent. However, ToM tasks will also require executive functions.

Assessing episodic memory in rodents using spontaneous object recognition tasks.

Models of episodic memory are successfully established using spontaneous object recognition tasks in rodents. In this review, we present behavioral techniques devised to investigate this type of memory, emphasizing methods based on associations of places and temporal order of items explored by rats and mice. We also provide a review on the areas and circuitry of the medial temporal lobe underlying episodic-like memory, considering that a large number of neurobiology data derived from these protocols. Although spontaneous recognition tasks are commonplace in this field, there is need for careful evaluation of factors affecting animal performance. Such as the ongoing development of tools for investigating the neural basis of memory, efforts should be put in the refinement of experimental designs, in order to provide reliable behavioral evidence of this complex mnemonic system.

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.

BACKGROUND: Modern human brains and skull shapes differ from other hominids. Brain growth disorders as micro- (ASPM, MCPH1) and macrocephaly (NFIX, GLI3) have been highlighted as relevant for the evolution in humans due to the impact in early brain development. Genes associated with macrocephaly have been reported to cause this change, for example NSD1 which causes Sotos syndrome. RESULTS: In this study we performed a systematic literature review, located the reported variants associated to Sotos syndrome along the gene domains, compared the sequences with close primates, calculated their similarity, Ka/Ks ratios, nucleotide diversity and selection, and analyzed the sequence and structural conservation with distant primates. We aimed to understand if NSD1 in humans differs from other primates since the evolution of NSD1 has not been analyzed in primates, nor if the localization of the mutations is limited to humans. Our study found that most variations causing Sotos syndrome are in exon 19, 22 and 10. In the primate comparison we did not detect Ka/Ks ratios > 1, but a high nucleotide diversity with non-synonymous variations in exons 10, 5, 9, 11 and 23, and sites under episodic selection in exon 5 and 23, and human, macaque/colobus/tarsier/galago and tarsier/lemur/colobus. Most of the domains are conserved in distant primates with a particular progressive development from a simple PWWP1 in O. garnetti to a complex structure in Human. CONCLUSION: NSD1 is a chromatin modifier that suggests that the selection could influence brain development during modern human evolution and is not present in other primates; however, nowadays the nucleotide diversity is associated with Sotos syndrome.

Episodic memory training in elderly: A systematic review.

Introduction: Episodic memory is a cognitive process that allows the recall of experiences, learning, and the pursuit of future goals. During the aging process, episodic memory declines negatively, impacting social and psychological aspects in the elderly. Such intervention strategies as cognitive training are non-pharmacological ways of reducing these losses. Objective: We systematically reviewed studies of the cognitive training of episodic memory in healthy elderly individuals and elderly individuals with clinical conditions. Method: We systematically searched the PubMed, PsycNET, Web of Science, and SciELO databases using the descriptors "Episodic Memory" AND "Training" AND "Elderly" OR "Aging" OR "Dementia" in English and translated into Portuguese. Results: Of the 572 articles that were identified by the search, 23 were included in the final analysis. The main variables that comprised the intervention protocols (i.e., characteristics of the sample, type of control group, mode of episodic memory training, and duration of training) were investigated, as well as the outcome variables, efficacy, and risk of bias. The main results indicated effectiveness with regard to different forms of the cognitive training of episodic memory. Conclusion: Episodic memory training among the elderly can mitigate the negative effects of cognitive decline in dementia and healthy subjects promoting impacts at social, psychological, and economic levels. Although it is a widely studied topic, further empirical studies on the utility of episodic memory training in healthy elderly individuals and elderly individuals with clinical conditions are still needed.