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Children with Autism Spectrum Disorder (ASD) show severe attention deficits, hindering their capacity to acquire new skills. The automatic assessment of their attention response would provide the therapists with an important biomarker to better quantify their behaviour and monitor their progress during therapy. This work aims to develop a quantitative model, to evaluate the attention response of children with ASD, during robotic-assistive therapeutic sessions. Previous attempts to quantify the attention response of autistic subjects during human-robot interaction tasks were limited to restrained child movements. Instead, we developed an accurate quantitative system to assess the attention of ASD children in unconstrained scenarios. Our approach combines gaze extraction (Gaze360 model) with the definition of angular Areas-of-Interest, to characterise periods of attention towards elements of interest in the therapy environment during the session. The methodology was tested with 12 ASD children, achieving a mean test accuracy of 79.5 %. Finally, the proposed attention index was consistent with the therapists' evaluation of patients, allowing a meaningful interpretation of the automatic evaluation. This encourages the future clinical use of the proposed system.

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INTRODUCTION: Non-alcoholic fatty liver disease (NAFLD) is related to cardiovascular disease. Cardiorespiratory fitness (CRF) is an important indicator of cardiovascular health. Therefore, we aimed to evaluate the CRF of NAFLD patients. METHODS: Cross-sectional study, including 32 patients with biopsy-proved NAFLD. The patients underwent ergometric test (ET) and six-minute walk test (6MWT) to determine CRF. The test results were compared to disease parameters and with each other. RESULTS: Considering the ET, 20 (62.5%) patients had very poor or poor CRF, and in 12 (37.5%), it was regular or good. In the 6MWT, 13 (40.6%) individuals had poor CRF, in 12 (37.5%), it was very poor, and in seven (21.9%), regular. NAFLD activity score (NAS) ≥5 was observed in 12 (37.5%) individuals. Twelve (37.5%) patients were sedentary, 11 (34.4%), insufficiently active, and nine (28.1%), active. Obesity and liver inflammation on biopsy were associated with very poor/poor CRF. NAS ≥5 and sedentary lifestyle were independently associated with very poor/poor CRF by ET. Although mean VO2max values determined by both tests were similar, no correlation of VO2max determined by ET and 6MWT was observed, as occurred for the distance walked in 6MWT and values of metabolic equivalent (MET) determined by ET. There was no reproducibility between CRF determined by ET and 6MWT. CONCLUSION: Most NAFLD patients had very poor or poor CRF. Severe liver injury (NAS ≥5) and sedentary lifestyle were independently associated with very poor/poor fitness, according to ET. No reproducibility was observed between the CRF defined by ET and 6MWT.

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Calcium (Ca2+) plays a central role in regulating many cellular processes and influences cell survival. Several mechanisms can disrupt Ca2+ homeostasis to trigger cell death, including oxidative stress, mitochondrial damage, excitotoxicity, neuroinflammation, autophagy, and apoptosis. Voltage-gated Ca2+ channels (VGCCs) act as the main source of Ca2+ entry into electrically excitable cells, such as neurons, and they are also expressed in glial cells such as astrocytes and oligodendrocytes. The dysregulation of VGCC activity has been reported in both Parkinson's disease (PD) and Huntington's (HD). PD and HD are progressive neurodegenerative disorders (NDs) of the basal ganglia characterized by motor impairment as well as cognitive and psychiatric dysfunctions. This review will examine the putative role of neuronal VGCCs in the pathogenesis and treatment of central movement disorders, focusing on PD and HD. The link between basal ganglia disorders and VGCC physiology will provide a framework for understanding the neurodegenerative processes that occur in PD and HD, as well as a possible path towards identifying new therapeutic targets for the treatment of these debilitating disorders.

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BACKGROUND: The atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy associated with high morbidity and high mortality. Eculizumab, a humanized anti-C5 monoclonal antibody, was the first medication approved for treating aHUS in 2011. OBJECTIVE: The objective of this study is to evaluate the efficacy and safety of eculizumab treatment in pediatric patients with aHUS. DATA SOURCES: We consulted PubMed, Scopus, SciELO, and Cochrane Library databases in July 2021. The descriptors were as follows: "Atypical Hemolytic Uremic Syndrome," "aHUS," "eculizumab," "Pediatrics," "Pediatric," "Child," "Children," "Adolescent." STUDY ELIGIBILITY CRITERIA: The study eligibility criteria are as follows: clinical trials and observational studies that included pediatric patients with aHUS diagnosis and who were treated with eculizumab. PARTICIPANTS AND INTERVENTIONS: The participants are pediatric patients, up to 18 years old, with aHUS. The intervention was eculizumab treatment. STUDY APPRAISAL: For quality assessment, we used the Newcastle-Ottawa Scale, the National Institutes of Health (NIH) quality assessment tool for case series studies, and the Risk of Bias In Non-Randomized Studies of Interventions (ROBINS-I) tool. RESULTS: The initial search retrieved 433 studies, from which 15 were selected after complete assessment: 9 cohorts, 4 case series, and 1 clinical trial. The publication date ranged from 2015 to 2021. In total, 940 pediatric patients were included, and 682 received eculizumab. All studies reported improvements in renal and hematological parameters in most of the patients treated with eculizumab. The mortality rate was 1.6% for all patients treated with eculizumab. LIMITATIONS: The number of studies is limited, and the included studies were methodologically heterogeneous. The studies were mostly observational and many had small sample sizes. CONCLUSIONS: Eculizumab appears to be safe and effective for the treatment of aHUS in pediatric patients. More research is necessary to establish long-term efficacy, safety, and time of discontinuation. SYSTEMATIC REVIEW REGISTRATION NUMBER: CRD42021266255.

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ABSTRACT BACKGROUND: Occult hepatitis B virus infection (OBI) is defined as the presence of hepatitis B virus (HBV) deoxyribonucleic acid (DNA) in the liver of individuals with undetectable hepatitis B virus surface antigen (HBsAg) in the serum. The actual prevalence of OBI and its clinical relevance are not yet fully understood. OBJECTIVE: To evaluate the prevalence of HBV DNA in liver biopsies of HBsAg-negative patients with chronic liver disease of different etiologies in a referral center in Brazil and compare two different HBV DNA amplification protocols to detect HBV. DESIGN AND SETTING: This cross-sectional observational study was conducted at the Liver Outpatient Clinic, Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil, between January 2016 and December 2019. METHODS: HBV DNA was investigated in 104 liver biopsy samples from individuals with chronic liver disease of different etiologies, in whom HBsAg was undetectable in serum by nested-polymerase chain reaction (nested-PCR), using two different protocols. RESULTS: OBI, diagnosed by detecting HBV DNA using both protocols, was detected in 6.7% of the 104 individuals investigated. Both protocols showed a good reliability. CONCLUSION: In addition to the differences in the prevalence of HBV infection in different regions, variations in the polymerase chain reaction technique used for HBV DNA amplification may be responsible for the large variations in the prevalence of OBI identified in different studies. There is a need for better standardization of the diagnostic methods used to diagnose this entity.

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BACKGROUND: Occult hepatitis B virus infection (OBI) is defined as the presence of hepatitis B virus (HBV) deoxyribonucleic acid (DNA) in the liver of individuals with undetectable hepatitis B virus surface antigen (HBsAg) in the serum. The actual prevalence of OBI and its clinical relevance are not yet fully understood. OBJECTIVE: To evaluate the prevalence of HBV DNA in liver biopsies of HBsAg-negative patients with chronic liver disease of different etiologies in a referral center in Brazil and compare two different HBV DNA amplification protocols to detect HBV. DESIGN AND SETTING: This cross-sectional observational study was conducted at the Liver Outpatient Clinic, Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil, between January 2016 and December 2019. METHODS: HBV DNA was investigated in 104 liver biopsy samples from individuals with chronic liver disease of different etiologies, in whom HBsAg was undetectable in serum by nested-polymerase chain reaction (nested-PCR), using two different protocols. RESULTS: OBI, diagnosed by detecting HBV DNA using both protocols, was detected in 6.7% of the 104 individuals investigated. Both protocols showed a good reliability. CONCLUSION: In addition to the differences in the prevalence of HBV infection in different regions, variations in the polymerase chain reaction technique used for HBV DNA amplification may be responsible for the large variations in the prevalence of OBI identified in different studies. There is a need for better standardization of the diagnostic methods used to diagnose this entity.

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BACKGROUND: Neurotypical individuals categorize items even during ultra-rapid presentations (20 ms; see Thorpe et al. Nature 381: 520, 1996). In cognitively able autistic adults, these semantic categorization processes may be impaired and/or may require additional time, specifically for the categorization of atypical compared to typical items. Here, we investigated how typicality structures influence ultra-rapid categorization in cognitively able autistic and neurotypical male adults. METHODS: Images representing typical or atypical exemplars of two different categories (food/animals) were presented for 23.5 vs. 82.3 ms (short/long). We analyzed detection rates, reaction times, and the event-related potential components dN150, N1, P2, N2, and P3 for each group. RESULTS: Behavioral results suggest slower and less correct responses to atypical compared to typical images. This typicality effect was larger for the category with less distinct boundaries (food) and observed in both groups. However, electrophysiological data indicate a different time course of typicality effects, suggesting that neurotypical adults categorize atypical images based on simple features (P2), whereas cognitively able autistic adults categorize later, based on arbitrary features of atypical images (P3). CONCLUSIONS: We found evidence that all three factors under investigation - category, typicality, and presentation time - modulated specific aspects of semantic categorization. Additionally, we observed a qualitatively different pattern in the autistic adults, which suggests that they relied on different cognitive processes to complete the task.

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BACKGROUND: Along with other canonical systems, the renin-angiotensin system (RAS) has shown important roles in stress. This system is a complex regulatory proteolytic cascade composed of various enzymes, peptides, and receptors. Besides the classical (ACE/Ang II/AT1 receptor) and the counter-regulatory (ACE2/Ang-(1-7)/Mas receptor) RAS axes, evidence indicates that nonclassical components, including Ang III, Ang IV, AT2 and AT4, can also be involved in stress. OBJECTIVE AND METHODS: This comprehensive review summarizes the current knowledge on the participation of RAS components in different adverse environmental stimuli stressors, including air jet stress, cage switch stress, restraint stress, chronic unpredictable stress, neonatal isolation stress, and post-traumatic stress disorder. RESULTS AND CONCLUSION: In general, activation of the classical RAS axis potentiates stress-related cardiovascular, endocrine, and behavioral responses, while the stimulation of the counter-regulatory axis attenuates these effects. Pharmacological modulation in both axes is optimistic, offering promising perspectives for stress-related disorders treatment. In this regard, angiotensin-converting enzyme inhibitors and angiotensin receptor blockers are potential candidates already available since they block the classical axis, activate the counter-regulatory axis, and are safe and efficient drugs.

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Telomeres are aging biomarkers, as they shorten while cells undergo mitosis. The aim of this study was to evaluate whether psychiatric disorders marked by psychological distress lead to alterations to telomere length (TL), corroborating the hypothesis that mental disorders might have a deeper impact on our physiology and aging than it was previously thought. A systematic search of the literature using MeSH descriptors of psychological distress ("Traumatic Stress Disorder" or "Anxiety Disorder" or "depression") and telomere length ("cellular senescence", "oxidative stress" and "telomere") was conducted on PubMed, Cochrane Library and ScienceDirect databases. A total of 56 studies (113,699 patients) measured the TL from individuals diagnosed with anxiety, depression and posttraumatic disorders and compared them with those from healthy subjects. Overall, TL negatively associates with distress-related mental disorders. The possible underlying molecular mechanisms that underly psychiatric diseases to telomere shortening include oxidative stress, inflammation and mitochondrial dysfunction linking. It is still unclear whether psychological distress is either a cause or a consequence of telomere shortening.

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Neuroleptic malignant syndrome is a neurological emergency caused by dysregulation of dopaminergic neurotransmission. While it is typically characterized by muscle rigidity, fever and altered mental status, it may have a heterogeneous and non-specific presentation, leading to delays in diagnosis and treatment. Treatment involves cessation of dopamine-receptor antagonists and supportive measures, but in more severe cases, bromocriptine, dantrolene, benzodiazepines and/or electroconvulsive therapy should be considered. We present the case of a 66-year-old man with severe neuroleptic malignant syndrome, diagnosed due to need for continuous invasive ventilation in an Intensive Care Unit, after successful treatment for respiratory sepsis. The patient recovered after electroconvulsive therapy and administration of bromocriptine. This unusually severe case illustrates the need for a high level of suspicion for neuroleptic malignant syndrome in critically ill patients with malignant catatonic syndromes, allowing for an early diagnosis and potentially lifesavingtreatment.

A síndrome maligna dos neurolépticos é uma emergência neurológica causada pela desregulação da neurotransmissão dopaminérgica. Apesar de habitualmente caracterizada por rigidez muscular, febre e alteração do estado mental, pode apresentar-se de forma inespecífica e heterogénea, atrasando o diagnóstico e tratamento. O tratamento engloba a interrupção de antagonistas dos receptores dopaminérgicos, medidas de suporte e, em casos mais graves, bromocriptina, dantroleno, benzodiazepinas e/ou terapia electroconvulsiva. Neste artigo descrevemos o caso clínico de um homem de 66 anos com síndrome maligna dos neurolépticos grave, diagnosticada devido à necessidade de ventilação artificial continuada na Unidade de Cuidados Intensivos, após tratamento de uma sépsis respiratória. O doente melhorou significativamente após terapia electroconvulsiva e administração de bromocriptina. Este caso, de gravidade particular, sublinha a necessidade de manter um elevado nível de suspeita de síndrome maligna dos neurolépticos em doentes em estado crítico com síndromes catatónicos malignos, permitindo assim um diagnóstico precoce e tratamento dirigido.

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Semantic meaning can be extracted from pictures presented very briefly, in the order of tens of milliseconds. This ultra-rapid categorization processing appears to respect a coarse-to-fine path where lower level representations of concepts, or more detailed information, need additional time. We question whether variations in the levels of typicality of the target-item would implicate additional processing for correct classification, both in neurotypical (NT) individuals and with autism spectrum disorder (ASD). Previous research in ASD points out that atypical exemplars of a category might be abnormally processed (e.g., longer times in identifying a penguin as a bird), an observation that we further tested with a rapid serial visual presentation (RSVP) task. In this study, we applied a RSVP task, with four different presentation times (13, 27, 50, and 80 ms) and with typical and atypical exemplars to a group of NT individuals and a sample of individuals with ASD. We found, overall, a strong effect of typicality with a higher detection rate for typical items. In addition, we observed a group × typicality × duration interaction. We interpret these findings in the light of the competences of the feedforward sweep of information through our visual system.

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INTRODUCTION: People with dementia and their relatives should have timely access to formal care in the community. The EU-Actifcare project analysed access to and use of formal services, as related to unmet needs for care. We describe the cohort study implementation and baseline results in Portugal, with a focus on needs for care and service use assessments. MATERIAL AND METHODS: Our convenience sample consisted of 66 dyads of community-dwelling people with mild to moderate dementia and no significant use of formal services, and their informal carers. Measures included the Camberwell Assessment of Need for the Elderly and Resources Utilization in Dementia. RESULTS: People with dementia had unmet needs (mean 1.1; SD 1.7), mainly regarding company (23%), psychological distress (20%), and daily activities (14%). Family caregivers spent 150 minutes/day (median) providing support, and 44% had psychological distress unmet needs. Problems with access to or use of formal services, when present, were frequently due to attitudes or lack of knowledge of any or both members of the dyad. DISCUSSION: The recruitment process was challenging, since the inclusion criteria were restrictive. Not claiming generalizability, we recruited a typical sample of Portuguese people with mild to moderate dementia and no significant formal community support. Levels and type of unmet needs found in some participants would call for formal support, were it not for problems regarding access or use. CONCLUSION: There are difficulties regarding timely access and effective use of formal care in dementia, along with relevant unmet needs.

Introdução: As pessoas com demência e os seus familiares deveriam ter acesso atempado a cuidados formais na comunidade (centros de dia, apoio domiciliário). O projecto EU-Actifcare investigou o acesso/utilização destes serviços em países europeus. Descrevemos a implementação do estudo de coorte e a avaliação inicial em Portugal, com foco nas necessidades de cuidados e recurso aos serviços.Material e Métodos: Selecionámos uma amostra de conveniência de 66 pessoas com diagnóstico de demência ligeira a moderada (residindo na comunidade sem cuidados formais relevantes) e respetivos familiares-cuidadores. A avaliação (clínico-funcional e social) incluiu os instrumentos Camberwell Assessment of Need for the Elderly e Resource Utilization in Dementia.Resultados: Identificámos necessidades não-cobertas dos doentes (média 1,1; DP = 1,7), principalmente de companhia (23% dos casos), sofrimento psicológico (20%) e atividades diárias (14%). Os familiares-cuidadores dedicavam 150 minutos/dia (mediana) à prestação de cuidados e 44% apresentavam necessidades não-cobertas de sofrimento psicológico. Quando havia problemas de acesso/utilização dos serviços de saúde e sociais na comunidade, estes estavam frequentemente relacionados com recusa ou desconhecimento de utentes/familiares.Discussão: A seleção dos participantes não foi fácil, pela especificidade dos critérios adotados. Não almejando representatividade nacional, recrutámos uma amostra típica de pessoas em estádios ligeiros a moderados de demência, em serviços e regiões diferentes. Nalguns casos, encontrámos necessidades não-cobertas e repercussões familiares que já justificariam respostas de serviços na comunidade, não fossem os problemas de acesso/utilização.Conclusão: Na área das demências, existem dificuldades no acesso atempado e utilização efectiva de cuidados formais, coexistindo com uma cobertura menor de necessidades específicas.

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Primary focal dystonia is an idiopathic neurological disorder causing involuntary muscle contraction. Its pathophysiology probably involves the basal ganglia and cortical-basal pathways. Primary dystonia appears to be associated with significant obsessive-compulsive symptoms, but evidence remains scarce and contradictory. We addressed the following research questions: (1) Do primary dystonia patients have high obsessive-compulsive symptom scores? (2) Are these symptoms more severe in dystonia than in controls with equivalent peripheral neurological disorders? and (3) Is psychopathology different in botulinum toxin-treated and -untreated dystonia patients? This work was a cross-sectional, descriptive, controlled study comprising 45 consecutive patients with primary focal dystonia (i.e., blepharospasm, spasmodic torticollis, or writer's cramp) 46 consecutive patients with hemifacial spasm, cervical spondylarthropathy, or carpal tunnel syndrome, and 30 healthy volunteers. Assessment included the DSM-IV based psychiatric interview, Symptom Checklist 90R, Yale-Brown Obsessive-Compulsive Scale and Checklist, and the Unified Dystonia Rating Scale. Dystonia patients had higher Yale-Brown Obsessive-Compulsive Symptom scores than both control groups. Dystonia patients with obsessive-compulsive symptom scores above cut-off for clinical significance predominantly developed hygiene-related symptoms. Major depression and generalized anxiety disorder were the most frequent psychiatric diagnoses in primary focal dystonia. Obsessive-compulsive disorder frequency was 6.7%. Primary focal dystonia patients have higher obsessive-compulsive symptom scores than individuals with similar functional disabilities resulting from other neurological disorders, suggesting that obsessive-compulsive symptoms in dystonia are not reactive to chronic disability. Dystonic muscle contractions and obsessive-compulsive symptoms may share a common neurobiological basis related to cortical-basal dysfunction. Psychopathology, especially obsessive-compulsive symptoms, should be actively explored and treated in primary focal dystonia.

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BACKGROUND: Little is known about the risk of progression to hazardous alcohol use in people currently drinking at safe limits. We aimed to develop a prediction model (predictAL) for the development of hazardous drinking in safe drinkers. METHODS: A prospective cohort study of adult general practice attendees in six European countries and Chile followed up over 6 months. We recruited 10,045 attendees between April 2003 to February 2005. 6193 European and 2462 Chilean attendees recorded AUDIT scores below 8 in men and 5 in women at recruitment and were used in modelling risk. 38 risk factors were measured to construct a risk model for the development of hazardous drinking using stepwise logistic regression. The model was corrected for over fitting and tested in an external population. The main outcome was hazardous drinking defined by an AUDIT score ≥8 in men and ≥5 in women. RESULTS: 69.0% of attendees were recruited, of whom 89.5% participated again after six months. The risk factors in the final predictAL model were sex, age, country, baseline AUDIT score, panic syndrome and lifetime alcohol problem. The predictAL model's average c-index across all six European countries was 0.839 (95% CI 0.805, 0.873). The Hedge's g effect size for the difference in log odds of predicted probability between safe drinkers in Europe who subsequently developed hazardous alcohol use and those who did not was 1.38 (95% CI 1.25, 1.51). External validation of the algorithm in Chilean safe drinkers resulted in a c-index of 0.781 (95% CI 0.717, 0.846) and Hedge's g of 0.68 (95% CI 0.57, 0.78). CONCLUSIONS: The predictAL risk model for development of hazardous consumption in safe drinkers compares favourably with risk algorithms for disorders in other medical settings and can be a useful first step in prevention of alcohol misuse.

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Psychotic syndromes in the context of hyperthyroidism are seldom mentioned in medical textbooks and only a few cases have been published. Typically, such cases present as an affective psychosis. Schizophrenia-like psychosis is a rare occurrence in hyperthyroidism and the link between these two conditions is still poorly understood.We report the case of a female patient with a known history of chronic lymphocytic thyroiditis. The patient presented to our emergency department with an acute schizophrenia-like psychosis. Elevated levels of T4 and free T4 were found. These resulted from the patient's voluntary intake of excess levothyroxine as an attempt to lose weight (thyrotoxicosis factitia). Normalisation of thyroid hormone levels and antipsychotic treatment led to prompt remission of the psychosis. Even though the patient stopped the antipsychotics, she remained free of symptoms during the follow-up. Similar cases are briefly reviewed and some of the data from basic research is also considered.

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Staphylococcus aureus is a pathogenic bacterium causing clinical and subclinical bovine mastitis. Infections of the udder by S. aureus are frequently associated with the presence of Staphylococcus epidermidis, an opportunistic pathogen. We reported previously that the capacity of bovine endothelial cells (BEC) to endocytize S. aureus is associated with the activation of NF-kappaB and modulated by the proinflammatory cytokines TNF-alpha and IL-1beta. In this work, we explore the ability of BEC to eliminate intracellular S. aureus and S. epidermidis and their response to these cytokines. Time-kinetics survival experiments indicated that BEC eliminate intracellular S. epidermidis more efficiently. Replication of S. aureus, but not S. epidermidis, inside BEC was evident by an increase in intracellular bacteria recovered at 2 h postinfection. Afterwards, the intracellular number of staphylococci decreased gradually, reaching the lowest value at 24 h. Treatment of BEC with TNF-alpha or IL-1beta potentiated the capacity of BEC to eliminate both Staphylococcus species at the times tested. These results indicate that activation of the intrinsic antistaphylococcal response in BEC, enhanced by TNF-alpha and IL-1beta, is effective to eliminate S. aureus and S. epidermidis and suggest that endothelial cells may play a prominent role in the defense against infections caused by these bacteria.

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