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BACKGROUND: Data on human brain function obtained with direct electrical stimulation (DES) in neurosurgical patients have been recently integrated and combined with modern neuroimaging techniques, allowing a connectome-based approach fed by intraoperative DES data. Within this framework is crucial to develop reliable methods for spatial localization of DES-derived information to be integrated within the neuroimaging workflow. NEW METHOD: To this aim, we applied the Kernel Density Estimation for modelling the distribution of DES sites from different patients into the MNI space. The algorithm has been embedded in a MATLAB-based User Interface, Peaglet. It allows an accurate probabilistic weighted and unweighted estimation of DES sites location both at cortical level, by using shortest path calculation along the brain 3D geometric topology, and subcortical level, by using a volume-based approach. RESULTS: We applied Peaglet to investigate spatial estimation of cortical and subcortical stimulation sites provided by recent brain tumour studies. The resulting NIfTI maps have been anatomically investigated with neuroimaging open-source tools. COMPARISON WITH EXISTING METHODS: Peaglet processes differently cortical and subcortical data following their distinguishing geometrical features, increasing anatomical specificity of DES-related results and their reliability within neuroimaging environments. CONCLUSIONS: Peaglet provides a robust probabilistic estimation of the cortical and subcortical distribution of DES sites going beyond a region of interest approach, respecting cortical and subcortical intrinsic geometrical features. Results can be easily integrated within the neuroimaging workflow to drive connectomic analysis.
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Algoritmos , Humanos , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/fisiopatología , Conectoma/métodos , Encéfalo/diagnóstico por imagen , Encéfalo/fisiología , Estimulación Eléctrica , Imagen por Resonancia Magnética/métodos , Neuroimagen/métodos , Corteza Cerebral/fisiología , Corteza Cerebral/diagnóstico por imagenRESUMEN
Despite human's praxis abilities are unique among primates, comparative observations suggest that these cognitive motor skills could have emerged from exploitation and adaptation of phylogenetically older building blocks, namely the parieto-frontal networks subserving prehension and manipulation. Within this framework, investigating to which extent praxis and prehension-manipulation overlap and diverge within parieto-frontal circuits could help in understanding how human cognition shapes hand actions. This issue has never been investigated by combining lesion mapping and direct electrophysiological approaches in neurosurgical patients. To this purpose, 79 right-handed left-brain tumour patient candidates for awake neurosurgery were selected based on inclusion criteria. First, a lesion mapping was performed in the early postoperative phase to localize the regions associated with an impairment in praxis (imitation of meaningless and meaningful intransitive gestures) and visuo-guided prehension (reaching-to-grasping) abilities. Then, lesion results were anatomically matched with intraoperatively identified cortical and white matter regions, whose direct electrical stimulation impaired the Hand Manipulation Task. The lesion mapping analysis showed that prehension and praxis impairments occurring in the early postoperative phase were associated with specific parietal sectors. Dorso-mesial parietal resections, including the superior parietal lobe and precuneus, affected prehension performance, while resections involving rostral intraparietal and inferior parietal areas affected praxis abilities (covariate clusters, 5000 permutations, cluster-level family-wise error correction P < 0.05). The dorsal bank of the rostral intraparietal sulcus was associated with both prehension and praxis (overlap of non-covariate clusters). Within praxis results, while resection involving inferior parietal areas affected mainly the imitation of meaningful gestures, resection involving intraparietal areas affected both meaningless and meaningful gesture imitation. In parallel, the intraoperative electrical stimulation of the rostral intraparietal and the adjacent inferior parietal lobe with their surrounding white matter during the hand manipulation task evoked different motor impairments, i.e. the arrest and clumsy patterns, respectively. When integrating lesion mapping and intraoperative stimulation results, it emerges that imitation of praxis gestures first depends on the integrity of parietal areas within the dorso-ventral stream. Among these areas, the rostral intraparietal and the inferior parietal area play distinct roles in praxis and sensorimotor process controlling manipulation. Due to its visuo-motor 'attitude', the rostral intraparietal sulcus, putative human homologue of monkey anterior intraparietal, might enable the visuo-motor conversion of the observed gesture (direct pathway). Moreover, its functional interaction with the adjacent, phylogenetic more recent, inferior parietal areas might contribute to integrate the semantic-conceptual knowledge (indirect pathway) within the sensorimotor workflow, contributing to the cognitive upgrade of hand actions.
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Corteza Cerebral , Desempeño Psicomotor , Humanos , Desempeño Psicomotor/fisiología , Filogenia , Lóbulo Parietal , Cognición , Mapeo Encefálico , Imagen por Resonancia Magnética , GestosRESUMEN
Hutchinson-Gilford progeria syndrome is an extremely rare genetic disease caused by a de novo mutation in the LMNA gene, leading to an accumulation of a form of Lamin A, called Progerin, which results in a typical phenotype and a marked decrease in life expectancy, due to early atherosclerosis and cardiovascular disease. We report the case of a fourteen-year-old Chinese boy with Hutchinson-Gilford progeria syndrome admitted to the emergency room because of precordial pain. Physical examination showed tachycardia 130 beats/min and arterial hypertension: 170/120 mmHg, normal respiratory rate, no neurological impairment; ECG evidenced sinus tachycardia, left ventricular hypertrophy, horizontal ST-segment depression in I, aVL, II, III, aVF leads, and V4-V6 and ST-segment elevation in aVR and V1 leads. Echocardiography highlighted preserved global left ventricular function with concentric hypertrophy, altered diastolic flow pattern, mitral valve insufficiency, and minimal aortic regurgitation. Blood tests evidenced an increase in high-sensitivity troponin T level (335 pg/mL). NSTEMI diagnosis was performed, and the patient was admitted to the intensive care unit. A coronary CT angiography showed a severe obstruction of the common trunk of the left coronary artery, for which an urgent percutaneous coronary intervention (PCI) was proposed. A selective coronary angiography imaged complete chronic occlusion of the left main coronary artery as well as severe stenosis at the origin of a very enlarged right coronary artery that vascularized the left coronary artery through collaterals. Afterwards, the right coronary artery was probed using an Amplatz right (AR1) guiding catheter, through which a large 3.5 mm drug-eluting coronary stent (Xience Sierra, Abbott, Abbott Park, IL, USA) was implanted. At the end of the procedure, no residual stenosis was imaged and improved vascularization of the left coronary artery distribution segments was observed. Dual antiplatelet therapy (DAPT) consisting of aspirin (75 mg daily) and clopidogrel (37.5 mg daily) and anti-hypertensive therapy were started. At the one-year follow-up, the patient had not reported any occurrence of anginal chest pain.
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COVID 19 pandemic has induced a large sedentarism in several kinds of sports. Some peculiar categories of athletes could particularly suffer from a prolonged inactivity as those affected by minimal cardiopathies as bicuspid aortic valve (BAV) athletes. This study aims to verify the myocardial performance in a restricted group of BAV athletes compared to a control group of agonistic athletes evaluated by traditional echocardiography and deformation parameters. 2D standard and deformations parameters were measured at rest conditions in BAV athletes and controls. Particularly EF, LVDD/LVS diameters, GLS rotation and twisting were considered as myocardial performance data; E/A, E1 and A1 as diastolic ones. All the 2D standard parameters measured were within the normal range in both groups, especially the EF value. Significant differences were found in the diastolic function with reduced values of E and E1 waves in BAV vs. controls. The strain analysis showed a significant reduction in GLS measured in 2C, 3C, 4C in BAV if compared to controls, while no significant differences were found in torsional and rotational parameters. These results are suggestive for a potential long term negative impact of inactivity on cardiac performance more evident in BAV athletes, if compared to athletes with normal aortic valve. GLS of LV and RV can be considered as a predictive parameter of this mild dysfunction and assumed as follow-up parameter to restore a progressive training.
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In primates, the parietal cortex plays a crucial role in hand-object manipulation. However, its involvement in object manipulation and related hand-muscle control has never been investigated in humans with a direct and focal electrophysiological approach. To this aim, during awake surgery for brain tumors, we studied the impact of direct electrical stimulation (DES) of parietal lobe on hand-muscles during a hand-manipulation task (HMt). Results showed that DES applied to fingers-representation of postcentral gyrus (PCG) and anterior intraparietal cortex (aIPC) impaired HMt execution. Different types of EMG-interference patterns were observed ranging from a partial (task-clumsy) or complete (task-arrest) impairment of muscles activity. Within PCG both patterns coexisted along a medio (arrest)-lateral (clumsy) distribution, while aIPC hosted preferentially the task-arrest. The interference patterns were mainly associated to muscles suppression, more pronounced in aIPC with respect to PCG. Moreover, within PCG were observed patterns with different level of muscle recruitment, not reported in the aIPC. Overall, EMG-interference patterns and their probabilistic distribution suggested the presence of different functional parietal sectors, possibly playing different roles in hand-muscle control during manipulation. We hypothesized that task-arrest, compared to clumsy patterns, might suggest the existence of parietal sectors more closely implicated in shaping the motor output.
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Estimulación Eléctrica , Mano/fisiología , Actividad Motora/fisiología , Músculo Esquelético/fisiología , Lóbulo Parietal/fisiología , Corteza Somatosensorial/fisiología , Adulto , Anciano , Electromiografía , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
We describe the case of a 15-year-old female patient with Peutz-Jeghers syndrome who presented with vomiting and abdominal pain secondary to ileoileal invagination. Initial analgesic treatment was not effective, and subsequent tramadol infusion resulted in clinical manifestations compatible with Kounis and Takotsubo syndromes. However, the patient had an excellent recovery. (Level of Difficulty: Advanced.).
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A 12-year-old male patient suffering from congenital glaucoma developed bradycardia, left ventricular failure, and hypotension after induction of anesthesia. Electrocardiography and echocardiography revealed a complete normalization of ECG and a complete spontaneous recovery in the cardiac function 72 hours from the beginning of the clinical manifestations, while cardiac Magnetic Resonance Imaging was performed, and coronary Computed Tomography scan revealed a myocardial bridge of a tract of the left anterior descendent coronary artery. Diagnosis of Kounis syndrome (KS) was made, a relatively novel, under-recognized clinical condition, defined as the manifestation of an acute coronary syndrome accompanied by mast cell activation and platelet aggregation involving interrelated and interacting inflammatory cells in the setting of allergic, hypersensitivity, anaphylactic or anaphylactoid insults. We described one of the first pediatric cases of KS related to anesthetic medications. In children, this syndrome has been only described in isolated case reports or small case series. Thus, it appears critical to report new cases of KS in children to increase the awareness of this disease in pediatric healthcare workers so as to enhance its early recognition and optimal therapeutic strategy. Furthermore, it appears of paramount importance the implementation of universal guidelines accepted by allergology and cardiology societies, in order to standardize the management of pediatric and adult patients with KS. Finally, a close collaboration between pediatric allergists and cardiologists seems fundamental for an optimal multidisciplinary patient care.
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The ventral part of lateral prefrontal cortex (VLPF) of the monkey receives strong visual input, mainly from inferotemporal cortex. It has been shown that VLPF neurons can show visual responses during paradigms requiring to associate arbitrary visual cues to behavioral reactions. Further studies showed that there are also VLPF neurons responding to the presentation of specific visual stimuli, such as objects and faces. However, it is largely unknown whether VLPF neurons respond and differentiate between stimuli belonging to different categories, also in absence of a specific requirement to actively categorize or to exploit these stimuli for choosing a given behavior. The first aim of the present study is to evaluate and map the responses of neurons of a large sector of VLPF to a wide set of visual stimuli when monkeys simply observe them. Recent studies showed that visual responses to objects are also present in VLPF neurons coding action execution, when they are the target of the action. Thus, the second aim of the present study is to compare the visual responses of VLPF neurons when the same objects are simply observed or when they become the target of a grasping action. Our results indicate that: (1) part of VLPF visually responsive neurons respond specifically to one stimulus or to a small set of stimuli, but there is no indication of a "passive" categorical coding; (2) VLPF neuronal visual responses to objects are often modulated by the task conditions in which the object is observed, with the strongest response when the object is target of an action. These data indicate that VLPF performs an early passive description of several types of visual stimuli, that can then be used for organizing and planning behavior. This could explain the modulation of visual response both in associative learning and in natural behavior.
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Neuronas/fisiología , Corteza Prefrontal/fisiología , Desempeño Psicomotor , Percepción Visual , Potenciales de Acción , Algoritmos , Análisis de Varianza , Humanos , Modelos Biológicos , Estimulación LuminosaRESUMEN
Fine motor skills rely on the control of hand muscles exerted by a region of primary motor cortex (M1) that has been extensively investigated in monkeys. Although neuroimaging enables the exploration of this system also in humans, indirect measurements of brain activity prevent causal definitions of hand motor representations, which can be achieved using data obtained during brain mapping in tumor patients. High-frequency direct electrical stimulation delivered at rest (HF-DES-Rest) on the hand-knob region of the precentral gyrus has identified two sectors showing differences in cortical excitability. Using quantitative analysis of motor output elicited with HF DES-Rest, we characterized two sectors based on their excitability, higher in the posterior and lower in the anterior sector. We studied whether the different cortical excitability of these two regions reflected differences in functional connectivity (FC) and structural connectivity (SC). Using healthy adults from the Human Connectome Project (HCP), we computed FC and SC of the anterior and the posterior hand-knob sectors identified within a large cohort of patients. The comparison of FC of the two seeds showed that the anterior hand-knob, relative to the posterior hand-knob, showed stronger functional connections with a bilateral set of parietofrontal areas responsible for integrating perceptual and cognitive hand-related sensorimotor processes necessary for goal-related actions. This was reflected in different patterns of SC between the two sectors. Our results suggest that the human hand-knob is a functionally and structurally heterogeneous region organized along a motor-cognitive gradient.SIGNIFICANCE STATEMENT The capability to perform complex manipulative tasks is one of the major characteristics of primates and relies on the fine control of hand muscles exerted by a highly specialized region of the precentral gyrus, often termed the "hand-knob" sector. Using intraoperative brain mapping, we identify two hand-knob sectors (posterior and anterior) characterized by differences in cortical excitability. Based on resting-state functional connectivity (FC) and tractography in healthy subjects, we show that posterior and anterior hand-knob sectors differ in their functional connectivity (FC) and structural connectivity (SC) with frontoparietal regions. Thus, anteroposterior differences in cortical excitability are paralleled by differences in FC and SC that likely reflect a motor (posterior) to cognitive (anterior) organization of this cortical region.
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Mano/fisiología , Destreza Motora/fisiología , Músculo Esquelético/fisiología , Adolescente , Adulto , Anciano , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/fisiología , Cognición , Conectoma , Potenciales Evocados Motores/fisiología , Femenino , Lóbulo Frontal/diagnóstico por imagen , Lóbulo Frontal/fisiología , Mano/inervación , Humanos , Periodo Intraoperatorio , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Corteza Motora , Músculo Esquelético/inervación , Vías Nerviosas/fisiología , Estimulación Transcraneal de Corriente Directa , Percepción Visual/fisiología , Adulto JovenRESUMEN
BACKGROUND: Supraventricular tachycardias (SVTs) are common in the first year of life and may be life-threatening. Acute cardioversion is usually effective, with both pharmacological and non-pharmacological procedures. However, as yet no international consensus exists concerning the best drug required for a stable conversion to sinus rhythm (maintenance treatment). Our study intends to describe the experience of a single centre with maintenance drug treatment of both re-entry and automatic SVTs in the first year of life. METHODS: From March 1995 to April 2019, 55 patients under one year of age with SVT were observed in our Centre. The SVTs were divided into two groups: 45 re-entry and 10 automatic tachycardias. As regards maintenance therapy, in re-entry tachycardias, we chose to start with oral flecainide and in case of relapses switched to combined treatment with beta-blockers or digoxin. In automatic tachycardias we first administered a beta-blocker, later combined with flecainide or amiodarone when ineffective. RESULTS: The patients' median follow-up time was 35 months. In re-entry tachycardias, flecainide was effective as monotherapy in 23/45 patients (51.1%) and in 20/45 patients (44.4%) in combination with nadolol, sotalol or digoxin (overall 95.5%). In automatic tachycardias, a beta-blocker alone was effective in 3/10 patients (30.0%), however, the best results were obtained when combined with flecainide: overall 9/10 (90%). CONCLUSIONS: In this retrospective study on pharmacological treatment of SVTs under 1 year of age the combination of flecainide and beta-blockers was highly effective in long-term maintenance of sinus rhythm in both re-entry and automatic tachycardias.
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Antiarrítmicos/uso terapéutico , Frecuencia Cardíaca/efectos de los fármacos , Taquicardia Supraventricular/tratamiento farmacológico , Potenciales de Acción , Antagonistas Adrenérgicos beta/uso terapéutico , Factores de Edad , Antiarrítmicos/efectos adversos , Digoxina/uso terapéutico , Quimioterapia Combinada , Femenino , Flecainida/uso terapéutico , Humanos , Lactante , Recién Nacido , Masculino , Nadolol/uso terapéutico , Recurrencia , Estudios Retrospectivos , Sotalol/uso terapéutico , Taquicardia Supraventricular/diagnóstico , Taquicardia Supraventricular/fisiopatología , Factores de Tiempo , Resultado del Tratamiento , Bloqueadores del Canal de Sodio Activado por Voltaje/uso terapéuticoRESUMEN
A negative motor response (NMR) is defined as the inability to continue voluntary movements without losing consciousness when direct electrical stimulation (DES) is applied during awake neurosurgery. While visual inspection is most commonly used to define an NMR, the actual effect of stimulation on muscle activity has been neglected by recent neurosurgical literature. We show that behavioral assessment of NMRs hides different site-dependent effects on muscles as revealed by electromyography (EMG), describing ten cases of brain tumor patients undergoing awake neurosurgery while performing a hand-object manipulation task. DES-induced NMRs were assessed behaviorally and related to the underlying electromyographic recording. Quantitative analysis of motor unit recruitment and regularity between phasic muscle contractions was computed. We show that similar NMRs classified based on behavioral criteria can be associated with suppression, increased recruitment or mixed effects on ongoing hand muscles. In some cases, suppression of hand muscle activity is associated with involuntary recruitment of muscles not involved in the task. Interestingly, stimulation of behaviorally defined "negative areas" across the frontal and parietal lobes elicits different electromyographic patterns, depending on the stimulation site. This study provides novel preliminary background as to the heterogeneous profile of muscle activity during NMRs. In fact, EMG monitoring paired with behavioral assessment can distinguish between NMRs that, despite similarity on behavioral inspection, are different in their related EMG, possibly underlying different neural substrates. The identification of different circuits hidden in similar NMRs may become relevant when planning the extension of resection.
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Mano , Músculo Esquelético , Estimulación Eléctrica , Electromiografía , Humanos , Contracción MuscularRESUMEN
Genetic investigation of early-onset Dilatative cardiomyopathy phenotype, including molecular autopsy, is the key to appropriate recognition and management of rare etiologies and atypical presentations and to offer genetic counseling to the family.
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Supraventricular tachyarrhythmia (SVT) is the most common type of arrhythmia in childhood. Management can be challenging with an associated risk of mortality. A female neonate was diagnosed with episodes of SVT, controlled antenatally with digoxin. Flecainide was commenced prophylactically at birth. Despite treatment, the infant developed a narrow complex tachycardia at 5 days of age. The electrocardiogram features were suggestive of either re-entry tachycardia or of automatic atrial tachycardia (AAT). Following several unsuccessful treatments, a wide complex tachycardia developed. A transesophageal electrophysiological study led to a diagnosis of AAT. Stable sinus rhythm was finally achieved through increasing daily administrations of flecainide up to six times a day, in association with nadolol. The shortening of intervals to this extent has never been reported before and supports the evidence of a personal, age-specific variability in pharmacokinetics of flecainide. Larger studies are needed to better define the appropriate dose and timing of administration.
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Cortico-cortical networks involved in motor control have been well defined in the macaque using a range of invasive techniques. The advent of neuroimaging has enabled non-invasive study of these large-scale functionally specialized networks in the human brain; however, assessing its accuracy in reproducing genuine anatomy is more challenging. We set out to assess the similarities and differences between connections of macaque motor control networks defined using axonal tracing and those reproduced using structural and functional connectivity techniques. We processed a cohort of macaques scanned in vivo that were made available by the open access PRIME-DE resource, to evaluate connectivity using diffusion imaging tractography and resting state functional connectivity (rs-FC). Sectors of the lateral grasping and exploratory oculomotor networks were defined anatomically on structural images, and connections were reproduced using different structural and functional approaches (probabilistic and deterministic whole-brain and seed-based tractography; group template and native space functional connectivity analysis). The results showed that parieto-frontal connections were best reproduced using both structural and functional connectivity techniques. Tractography showed lower sensitivity but better specificity in reproducing connections identified by tracer data. Functional connectivity analysis performed in native space had higher sensitivity but lower specificity and was better at identifying connections between intrasulcal ROIs than group-level analysis. Connections of AIP were most consistently reproduced, although those connected with prefrontal sectors were not identified. We finally compared diffusion MR modelling with histology based on an injection in AIP and speculate on anatomical bases for the observed false negatives. Our results highlight the utility of precise ex vivo techniques to support the accuracy of neuroimaging in reproducing connections, which is relevant also for human studies.
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Encéfalo/diagnóstico por imagen , Red Nerviosa/diagnóstico por imagen , Desempeño Psicomotor/fisiología , Vías Visuales/diagnóstico por imagen , Animales , Conectoma , Imagen de Difusión Tensora , Femenino , Macaca mulatta , Imagen por Resonancia Magnética , Masculino , NeuroimagenRESUMEN
Strong right-hand preference on the population level is a uniquely human feature, although its neural basis is still not clearly defined. Recent behavioural and neuroimaging literature suggests that hand preference may be related to the orchestrated function and size of fronto-parietal white matter tracts bilaterally. Lesions to these tracts induced during tumour resection may provide an opportunity to test this hypothesis. In the present study, a cohort of seventeen neurosurgical patients with left hemisphere brain tumours were recruited to investigate whether resection of certain white matter tracts affects the choice of hand selected for the execution of a goal-directed task (assembly of jigsaw puzzles). Patients performed the puzzles, but also tests for basic motor ability, selective attention and visuo-constructional ability, preoperatively and one month after surgery. An atlas-based disconnectome analysis was conducted to evaluate whether resection of tracts was significantly associated with changes in hand selection. Diffusion tractography was also used to dissect fronto-parietal tracts (the superior longitudinal fasciculus) and the corticospinal tract. Results showed a shift in hand selection despite the absence of any motor or cognitive deficits, which was significantly associated with frontal and parietal resections rather than other lobes. In particular, the shift in hand selection was significantly associated with the resection of dorsal rather than ventral fronto-parietal white matter connections. Dorsal white matter pathways contribute bilaterally to control of goal-directed hand movements. We show that unilateral lesions, that may unbalance the cooperation of the two hemispheres, can alter the choice of hand selected to accomplish movements.
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Neurocirugia , Sustancia Blanca , Imagen de Difusión Tensora , Humanos , Red Nerviosa , Vías Nerviosas , Procedimientos Neuroquirúrgicos , Sustancia Blanca/diagnóstico por imagenRESUMEN
The development of awake intraoperative brain-mapping procedures for resection of brain tumors is of growing interest in neuroscience, because it enables direct testing of brain tissue, previously only possible in non-human primates. In a recent study performed in this setting specific effects can be induced by direct electrical stimulation on different sectors of premotor cortex during the execution of a hand manipulation task. Specifically, direct electrical stimulation applied on a dorsal sector of precentral cortex led to an increase in motor unit recruitment in hand muscles during execution of a hand manipulation task (Recruitment sector). The opposite effect was elicited when electrical stimulation was delivered more ventrally on the precentral cortex (Suppression sector). We studied whether the different effects on motor behavior induced by direct electrical stimulation applied on the two sites of the precentral cortex underlie differences in their functional connectivity with other brain areas, measured using resting state fMRI. Using healthy adults scanned as part of the Human Connectome Project, we computed the functional connectivity of each sector used as seeds. The functional connectivity patterns of the two intraoperative seeds was similar but cross-comparison revealed that the left and right Recruitment sectors had stronger functional connections with the hand region of the sensorimotor cortex, while the right Suppression region displayed stronger functional connectivity with a bilateral set of parieto-frontal areas crucial for the integration of perceptual and cognitive hand-related sensorimotor processes required for goal-related hand actions. Our results suggest that analyzing data obtained in the intraoperative setting with resting state functional magnetic resonance imaging in healthy brains can yield useful insight into the roles of different premotor sectors directly involved in hand-object interaction.
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Neoplasias Encefálicas/cirugía , Conectoma , Lóbulo Frontal/fisiología , Mano/fisiología , Actividad Motora/fisiología , Músculo Esquelético/fisiología , Red Nerviosa/fisiología , Reclutamiento Neurofisiológico/fisiología , Corteza Sensoriomotora/fisiología , Adolescente , Adulto , Anciano , Estimulación Eléctrica , Lóbulo Frontal/diagnóstico por imagen , Humanos , Monitorización Neurofisiológica Intraoperatoria , Imagen por Resonancia Magnética , Persona de Mediana Edad , Corteza Motora/diagnóstico por imagen , Corteza Motora/fisiología , Red Nerviosa/diagnóstico por imagen , Corteza Sensoriomotora/diagnóstico por imagen , Adulto JovenRESUMEN
Dorsal and ventral premotor (dPM and vPM) areas are crucial in control of hand muscles during object manipulation, although their respective role in humans is still debated. In patients undergoing awake surgery for brain tumors, we studied the effect of direct electrical stimulation (DES) of the premotor cortex on the execution of a hand manipulation task (HMt). A quantitative analysis of the activity of extrinsic and intrinsic hand muscles recorded during and in absence of DES was performed. Results showed that DES applied to premotor areas significantly impaired HMt execution, affecting task-related muscle activity with specific features related to the stimulated area. Stimulation of dorsal vPM induced both a complete task arrest and clumsy task execution, characterized by general muscle suppression. Stimulation of ventrocaudal dPM evoked a complete task arrest mainly due to a dysfunctional recruitment of hand muscles engaged in task execution. These results suggest that vPM and dPM contribute differently to the control of hand muscles during object manipulation. Stimulation of both areas showed a significant impact on motor output, although the different effects suggest a stronger relationship of dPM with the corticomotoneuronal circuit promoting muscle recruitment and a role for vPM in supporting sensorimotor integration.
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Mano/fisiología , Actividad Motora/fisiología , Corteza Motora/fisiología , Músculo Esquelético/fisiología , Adulto , Anciano , Estimulación Eléctrica , Electromiografía , Fuerza de la Mano , Humanos , Persona de Mediana EdadRESUMEN
A key aspect of cognitive control is the management of conflicting incoming information to achieve a goal, termed 'interference control'. Although the role of the right frontal lobe in interference control is evident, the white matter tracts subserving this cognitive process remain unclear. To investigate this, we studied the effect of transient network disruption (by means of direct electrical stimulation) and permanent disconnection (resulting from neurosurgical resection) on interference control processes, using the Stroop test in the intraoperative and extraoperative neurosurgical setting. We evaluated the sites at which errors could be produced by direct electrical stimulation during an intraoperative Stroop test in 34 patients with frontal right hemisphere glioma. Lesion-symptom mapping was used to evaluate the relationship between the resection cavities and postoperative performance on the Stroop test of this group compared with an additional 29 control patients who did not perform the intraoperative test (63 patients in total aged 17-77 years; 28 female). We then examined tract disruption and disconnection in a subset of eight patients who underwent both the intraoperative Stroop test and high angular resolution diffusion imaging (HARDI) tractography. The results showed that, intraoperatively, the majority of sites associated with errors during Stroop test performance and concurrent subcortical stimulation clustered in a region of white matter medial to the right inferior frontal gyrus, lateral and superior to the striatum. Patients who underwent the intraoperative test maintained cognitive control ability at the 1-month follow-up (P = 0.003). Lesion-symptom analysis showed resection of the right inferior frontal gyrus was associated with slower postoperative Stroop test ability (corrected for multiple comparisons, 5000 permutations). The stimulation sites associated with intraoperative errors most commonly corresponded with the inferior fronto-striatal tracts and anterior thalamic radiation (over 75% of patients), although the latter was commonly resected without postoperative deficits on the Stroop test (in 60% of patients). Our results show converging evidence to support a critical role for the inferior frontal gyrus in interference control processes. The intraoperative data combined with tractography suggests that cortico-subcortical tracts, over cortico-cortical connections, may be vital in maintaining efficiency of cognitive control processes. This suggests the importance of their preservation during resection of right frontal tumours.
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Neoplasias Encefálicas/cirugía , Función Ejecutiva/fisiología , Lóbulo Frontal/fisiología , Glioma/cirugía , Monitorización Neurofisiológica Intraoperatoria/métodos , Adolescente , Adulto , Anciano , Mapeo Encefálico/métodos , Cognición/fisiología , Imagen de Difusión Tensora , Femenino , Humanos , Masculino , Persona de Mediana Edad , Vías Nerviosas/fisiología , Test de Stroop , Adulto JovenRESUMEN
BACKGROUND: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome is a rare condition with heterogeneous clinical presentation. Cardiac involvement commonly develops during adulthood, comprising both structural and conduction/arrhythmic abnormalities; early paediatric onset has rarely been reported. We describe the clinical profile, outcome and clinical implication of MELAS-associated cardiomyopathy at a tertiary referral centre. METHODS: From 2000 to 2016 we enrolled 21 patients affected by genetically-proven MELAS. Patients were followed-up at least annually over a mean of 8.5â¯years. RESULTS: All patients carried the MT-TL1 3243A>G mutation. Cardiac involvement was documented in 8 (38%) patients (three <18â¯years; five ≥18â¯years), including 6 (75%) with hypertrophic cardiomyopathy, 1 (12.5%) with dilated cardiomyopathy, and 1 (12.5%) with persistent pulmonary hypertension. During follow-up, 3 patients died, all with cardiac onset <18â¯years. The cause of death, however, was non-cardiac (infections, respiratory failure, stroke). Neither events nor cardiac progression were recorded among patients with onset ≥18â¯years. Adult cardiologists were responsible for 5/8 of referrals, even in patients with long-standing extra-cardiac involvement. CONCLUSIONS: Cardiac involvement was found in over 1/3 of patients with MELAS syndrome, and exhibited a bimodal age-related distribution with distinct final outcomes. Paediatric-onset cardiomyopathy represented a hallmark of systemic disease severity, without being the main determinant of outcome. Conversely, adult-onset cardiomyopathy appeared to represent a mild and non-progressive mid-term manifestation. Adult cardiologists played an important role in the diagnostic process, triggering suspicion of MELAS in most of patients diagnosis >18â¯years.