Search Results (6,610)

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the ACADVL gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyolysis, and muscle pain, usually starting during adolescence or adulthood. We report on a 17-year-old boy who has presented with exercise-induced muscle pain and fatigue since childhood. In recent clinical history, episodes of exercise-related severe hyperCKemia and myoglobinuria were reported. Electromyography was normal, and a muscle biopsy showed only “moth-eaten” fibers, and a mild increase in lipid storage in muscle fibers. NGS analysis displayed the already known heterozygote c.1769G>A variant and the unreported heterozygote c.523G>C change in ACADVL both having disease-causing predictions. Plasma acylcarnitine profiles revealed high long-chain acylcarnitine species levels, especially C14:1. Clinical, histopathological, biochemical, and genetic tests supported the diagnosis of VLCAD deficiency. Our report of a novel pathogenic missense variant in ACADVL expands the allelic heterogeneity of the disease. Since dietary treatment is the only therapy available for treating VLCAD deficiency and it is more useful the earlier it is started, prompt diagnosis is essential in order to minimize muscle damage and slow the disease progression. Full article

A growing body of literature suggests dietary components can support mood and cognitive function through the impact of their bioactive or sensorial properties on neural pathways. Of interest, objective measures of the autonomic nervous system—such as those regulating bodily functions related to heartbeat and sweating—can be used to assess the acute effects of dietary components on mood and cognitive function. Technological advancements in the development of portable and wearable devices have made it possible to collect autonomic responses in real-world settings, creating an opportunity to study how the intake of dietary components impacts mood and cognitive function at an individual level, day-to-day. In this paper, we aimed to review the use of autonomic nervous system responses such as heart rate or skin galvanic response to investigate the acute effects of dietary components on mood and cognitive performance in healthy adult populations. In addition to examining the existing methodologies, we also propose new state-of-the-art techniques that use autonomic nervous system responses to detect changes in proxy patterns for the automatic detection of stress, alertness, and cognitive performance. These methodologies have potential applications for home-based nutrition interventions and personalized nutrition, enabling individuals to recognize the specific dietary components that impact their mental and cognitive health and tailor their nutrition accordingly. Full article

Sub-scalp Implantable Telemetric EEG (SITE) devices are under development for the treatment of epilepsy. However, beyond epilepsy, continuous EEG analysis could revolutionize the management of patients suffering from all types of brain disorders. This article reviews decades of foundational EEG research, collected from short-term routine EEG studies of common neurological and behavioral disorders, that may guide future SITE management and research. Established quantitative EEG methods, like spectral EEG power density calculation combined with state-of-the-art machine learning techniques applied to SITE data, can identify new EEG biomarkers of neurological disease. From distinguishing syncopal events from seizures to predicting the risk of dementia, SITE-derived EEG biomarkers can provide clinicians with real-time information about diagnosis, treatment response, and disease progression. Full article

Background: Recent literature has shown that a considerable percentage of patients with severe mental disorders can develop, over time, full-blown or subthreshold catatonia. Some studies corroborate the model of an illness trajectory in which different mental disorders would be arranged along a continuum of severity until the development of catatonia. In such an illness pathway, autistic traits (AT) and borderline personality disorder (BPD) may represent important steps. In order to further explore the association between AT, BPD, and catatonia, the aim of this study was to compare catatonic spectrum symptoms and AT among patients with major depressive disorder (MDD), BPD, and healthy controls (CTL), also evaluating possible predictive dimensions of the different diagnoses. Methods: A total of 90 adults affected by BPD, 90 adults with a diagnosis of MDD, and 90 CTL, homogeneous in terms of gender and age, were recruited from six Italian university departments of psychiatry and assessed with the SCID-5-RV, the Catatonia Spectrum (CS), and the Adult Autism Subthreshold Autism Spectrum (AdAS Spectrum). Results: The total CS score was significantly higher in the BPD and MDD groups than in the CTL group, while the majority of CS domain scores were significantly higher in the BPD group than in the MDD group, which scored significantly higher than the CTL group. The total AdAS Spectrum score and the AdAS Spectrum domain scores were significantly higher in the BPD group than in the MDD group, which in turn scored significantly higher than the CTL group. The CS domains “psychomotor activity” and “impulsivity”, and AdAS Spectrum domains “verbal communication”, “empathy”, and “hyper-/hyporeactivity to sensory input” were associated with the risk of presenting a diagnosis of BPD. Full article

Early adverse life events (EALs) increase susceptibility to depression and impair cognitive performance, but the physiological mechanisms are still unclear. The target of this article is to clarify the impact of adverse childhood experiences on emotional and cognitive performance from the perspective of the heart–brain axis. We used the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) to test cognitive function and the Childhood Trauma Questionnaire (CTQ) to assess adverse childhood experiences. Heart rate variability (HRV) and electroencephalograms (EEG) were acquired at rest. We observed that subjects with depression had experienced more traumatic events during their childhood. Furthermore, they exhibited lower heart rate variability and higher power in the delta, theta, and alpha frequency bands. Moreover, heart rate variability partially mediated the association between childhood trauma exposure and depressive symptoms. Our findings suggested that adverse life events in childhood could influence the development of depression in adulthood, which might be linked to cardiac autonomic dysfunction and altered brain function. Full article

Non-motor symptoms in Parkinson’s disease (PD) include ocular, visuoperceptive, and visuospatial impairments, which can occur as a result of the underlying neurodegenerative process. Ocular impairments can affect various aspects of vision and eye movement. Thus, patients can show dry eyes, blepharospasm, reduced blink rate, saccadic eye movement abnormalities, smooth pursuit deficits, and impaired voluntary and reflexive eye movements. Furthermore, visuoperceptive impairments affect the ability to perceive and recognize visual stimuli accurately, including impaired contrast sensitivity and reduced visual acuity, color discrimination, and object recognition. Visuospatial impairments are also remarkable, including difficulties perceiving and interpreting spatial relationships between objects and difficulties judging distances or navigating through the environment. Moreover, PD patients can present visuospatial attention problems, with difficulties attending to visual stimuli in a spatially organized manner. Moreover, PD patients also show perceptual disturbances affecting their ability to interpret and determine meaning from visual stimuli. And, for instance, visual hallucinations are common in PD patients. Nevertheless, the neurobiological bases of visual-related disorders in PD are complex and not fully understood. This review intends to provide a comprehensive description of visual disturbances in PD, from sensory to perceptual alterations, addressing their neuroanatomical, functional, and neurochemical correlates. Structural changes, particularly in posterior cortical regions, are described, as well as functional alterations, both in cortical and subcortical regions, which are shown in relation to specific neuropsychological results. Similarly, although the involvement of different neurotransmitter systems is controversial, data about neurochemical alterations related to visual impairments are presented, especially dopaminergic, cholinergic, and serotoninergic systems. Full article

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by inattention, hyperactivity, and impulsivity that affects a large number of young people in the world. The current treatments for children living with ADHD combine different approaches, such as pharmacological, behavioral, cognitive, and psychological treatment. However, the computer science research community has been working on developing non-pharmacological treatments based on novel technologies for dealing with ADHD. For instance, social robots are physically embodied agents with some autonomy and social interaction capabilities. Nowadays, these social robots are used in therapy sessions as a mediator between therapists and children living with ADHD. Another novel technology for dealing with ADHD is serious video games based on a brain–computer interface (BCI). These BCI video games can offer cognitive and neurofeedback training to children living with ADHD. This paper presents a systematic review of the current state of the art of these two technologies. As a result of this review, we identified the maturation level of systems based on these technologies and how they have been evaluated. Additionally, we have highlighted ethical and technological challenges that must be faced to improve these recently introduced technologies in healthcare. Full article

Associations between premorbid psychological factors and postoperative headache (POH) after microsurgical treatment via the retrosigmoid approach for vestibular schwannoma (VS) were investigated in this retrospective single-center study. A total of 101 VS patients completed the Rostock headache questionnaire (RoKoKo), the hospital and anxiety scale (HADS-D), and the screening for somatoform disorders (SOMS-2), all of which were used as short self-assessed questionnaires. Fifty-four patients with POH were compared with 47 non-POH patients in terms of premorbid psychological factors, somatization tendencies, and psychological burden using the chi²-test and Mann–Whitney U-test. Regression analyses were conducted to assess the weighted contribution of psychological and procedural factors to POH. In individuals with POH, mental ailments, preexisting headaches, premorbid chronic pain syndromes, and higher somatization tendencies were found to be significantly more common. POH was predicted by the number of premorbid psychosomatic symptoms, preexisting mental ailments, and premorbid chronic pain syndromes. Depression and anxiety were predicted by low emotional stability. Additionally, the number of premorbid psychosomatic symptoms predicted depression, anxiety, and overall psychological burden. It was observed that the reported symptoms of headache might fit into the classification of chronic postsurgical pain (CPSP) rather than being classified as secondary headaches after craniotomy. Premorbid psychological factors were found to play an important role in the emergence of POH in VS, particularly after microsurgery via the retrosigmoid approach. Therefore, it is suggested that psychological screening be incorporated into the treatment process. Full article

Various therapeutic approaches have been developed for neglect. Many studies have demonstrated the effect of digital therapeutics (DTx) on neglect. However, few studies have reported the effects of DTx on egocentric and allocentric neglect. The differentiation of types of neglect and separate interventions is crucial in the rehabilitation process. In this article, seven studies on DTx on egocentric and allocentric neglect were reviewed. DTx, which was employed in these studies, could be classified as follows: (1) software adaptation in traditional treatment, (2) VR game using the head-mount display as treatment, and (3) the development of a new digital program like ReMoVES. In addition, more studies and more effective results were reported for egocentric neglect than for allocentric neglect. In future studies, each effect on egocentric and allocentric neglect should be identified in detail with the appropriate use of differential evaluation and long-term application of independent DTx. Full article

Objective: To report a series of atypical presentations of Aicardi–Goutières syndrome. Methods: Clinical, neuroimaging, and genetic data. Results: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with onset at ages ranging from 7 to 20 months, reaching a nadir after 4 to 24 weeks. A remarkable improvement of lost abilities occurred in the follow-up, and they remained with residual spasticity and dysarthria but preserved cognitive function. Immunization or febrile illness occurred before disease onset in all patients. CSF was normal in two patients, and in four, borderline or mild lymphocytosis was present. A brain CT scan disclosed a subtle basal ganglia calcification in one of six patients. Brain MRI showed asymmetric signal abnormalities of white matter with centrum semi-ovale involvement in five patients and a diffuse white matter abnormality with contrast enhancement in one. Four patients were diagnosed and treated for acute demyelinating encephalomyelitis (ADEM). Brain imaging was markedly improved with one year or more of follow-up (average of 7 years), but patients remained with residual spasticity and dysarthria without cognitive impairment. Demyelination relapse occurred in a single patient four years after the first event. Whole-exome sequencing (WES) was performed in all patients: four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*) and in two of them the same homozygous deleterious variants in RNASEH2A (p.Ala249Val). Conclusions: This report expands the phenotype of AGS to include subacute developmental regression with partial clinical and neuroimaging improvement. Those clinical features might be misdiagnosed as ADEM. Full article

Antioxidants in cancer therapy have been a hot topic in the medical field for 20 years. Antioxidants are able to reduce the risk of cancer formation by neutralizing free radicals. Protons (H+) and molecular hydrogen (H2) interact in the cell and are essential in a wide variety of processes. The antioxidant, anti-inflammatory, and antiapoptotic effects of H2 have been studied in numerous experimental and clinical studies. Experimental data indicate that H2 is an antitumor agent in the treatment of glioblastoma (GBM). In vivo H2 inhalation could suppress the growth of GBM tumors, thereby extending the survival of mice with GBM. The sphere-forming ability of glioma cells was suppressed by hydrogen treatment. In addition, H2 treatment also suppressed the migration, invasion, and colony-forming ability of glioma cells. Proton therapy and proton beam radiotherapy offer some advantages over other modern conformal photon-based therapies when used in the treatment of central nervous system malignancies. Full article

Over the last few decades, developmental (psycho) linguists have demonstrated that perceiving talking faces audio-visually is important for early language acquisition. Using mostly well-controlled and screen-based laboratory approaches, this line of research has shown that paying attention to talking faces is likely to be one of the powerful strategies infants use to learn their native(s) language(s). In this review, we combine evidence from these screen-based studies with another line of research that has studied how infants learn novel words and deploy their visual attention during naturalistic play. In our view, this is an important step toward developing an integrated account of how infants effectively extract audiovisual information from talkers’ faces during early language learning. We identify three factors that have been understudied so far, despite the fact that they are likely to have an important impact on how infants deploy their attention (or not) toward talking faces during social interactions: social contingency, speaker characteristics, and task- dependencies. Last, we propose ideas to address these issues in future research, with the aim of reducing the existing knowledge gap between current experimental studies and the many ways infants can and do effectively rely upon the audiovisual information extracted from talking faces in their real-life language environment. Full article

Background: Abnormal accumulation of lipids is found in dopamine neurons and resident microglia in the substantia nigra of patients with Parkinson’s disease (PD). The accumulation of lipids is an important risk factor for PD. Previous studies have mainly focussed on lipid metabolism in peripheral blood, but little attention has been given to cerebrospinal fluid (CSF). We drew the lipidomic signature in CSF from PD patients and evaluated the role of lipids in CSF as biomarkers for PD diagnosis. Methods: Based on lipidomic approaches, we investigated and compared lipid metabolism in CSF from PD patients and healthy controls without dyslipidaemia in peripheral blood and explored the relationship of lipids between CSF and serum by Pearson correlation analysis. Results: A total of 231 lipid species were detected and classified into 13 families in the CSF. The lipid families, including phosphatidylcholine (PC), sphingomyelin (SM) and cholesterol ester (CE), had significantly increased expression compared with the control. Hierarchical clustering was performed to distinguish PD patients based on the significantly changed expression of 34 lipid species. Unsupervised and supervised methods were used to refine this classification. A total of 12 lipid species, including 3-hydroxy-dodecanoyl-carnitine, Cer(d18:1/24:1), CE(20:4), CE(22:6), PC(14:0/18:2), PC(O-18:3/20:2), PC(O-20:2/24:3), SM(d18:0/16:0), SM(d18:2/14:0), SM(d18:2/24:1), SM(d18:1/20:1) and SM(d18:1/12:0), were selected to draw the lipidomic signature of PD. Correlation analysis was performed and showed that the CE family and CE (22:6) in CSF had a positive association with total cholesterol in the peripheral blood from PD patients but not from healthy controls. Conclusions: Our results revealed that the lipidomic signature in CSF may be considered a potential biomarker for PD diagnosis, and increased CE, PC and SM in CSF may reveal pathological changes in PD patients, such as blood–brain barrier leakage. Full article

Extracorporeal membrane oxygenation (ECMO) is a frequently used mechanical cardiopulmonary support for rescuing critically ill patients for whom conventional medical therapies have failed. However, ECMO is associated with several complications, such as acute kidney injury, hemorrhage, thromboembolism, and acute brain injury (ABI). Among these, ABI, particularly intracranial hemorrhage (ICH) and infarction, is recognized as the primary cause of mortality during ECMO support. Furthermore, survivors often suffer significant long-term morbidities, including neurocognitive impairments, motor disturbances, and behavioral problems. This review provides a comprehensive overview of the different subtypes of ECMO-related ABI and the updated advance mechanisms, which could be helpful for the early diagnosis and potential neuromonitoring of ECMO-related ABI. Full article

Background: Cigarette smoking is believed to accelerate age-related neurodegeneration. Despite significant sex differences in both smoking behaviors and brain structures, the active literature is equivocal in parsing out a sex difference in smoking-associated brain structural changes. Objective: The current study examined subcortical and lateral ventricle gray matter (GM) volume differences among smokers, active, past, and never-smokers, stratified by sex. Methods: The current study data included 1959 Dallas Heart Study (DHS) participants with valid brain imaging data. Stratified by gender, multiple-group comparisons of three cigarette-smoking groups were conducted to test whether there is any cigarette-smoking group differences in GM volumes of the selected regions of interest (ROIs). Results: The largest subcortical GM volumetric loss and enlargement of the lateral ventricle were observed among past smokers for both females and males. However, these observed group differences in GM volumetric changes were statistically significant only among males after adjusting for age and intracranial volumes. Conclusions: The study findings suggest a sex difference in lifetime-smoking-associated GM volumetric changes, even after controlling for aging and intracranial volumes. Full article