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•Lesion of subcortical structures is more frequent in patients with synergic hand.•Sparing of subcortical white matter connections predicts hand impairment.•Children with ...semi-functional hand exhibit bilateral activations during grasping execution.•Patients with synergic hand show activations lateralized to the damaged hemisphere.•Lesion localization, rather than type (timing), predicts the manipulation level.
Brain damage in children with unilateral cerebral palsy (UCP) affects motor function, with varying severity, making it difficult the performance of daily actions. Recently, qualitative and semi-quantitative methods have been developed for lesion classification, but studies on mild to moderate hand impairment are lacking. The present study aimed to characterize lesion topography and preserved brain areas in UCP children with specific patterns of hand manipulation. A homogeneous sample of 16 UCP children, aged 9 to 14 years, was enrolled in the study. Motor assessment included the characterization of the specific pattern of hand manipulation, by means of unimanual and bimanual measures (Kinematic Hand Classification, KHC; Manual Ability Classification System, MACS; House Functional Classification System, HFCS; Melbourne Unilateral Upper Limb Assessment, MUUL; Assisting Hand Assessment, AHA). The MRI morphological study included multiple methods: (a) qualitative lesion classification, (b) semi-quantitative classification (sq-MRI), (c) voxel-based morphometry comparing UCP and typically developed children (VBM-DARTEL), and (d) quantitative brain tissue segmentation (q-BTS). In addition, functional MRI was used to assess spared functional activations and cluster lateralization in the ipsilesional and contralesional hemispheres of UCP children during the execution of simple movements and grasping actions with the more affected hand. Lesions most frequently involved the periventricular white matter, corpus callosum, posterior limb of the internal capsule, thalamus, basal ganglia and brainstem. VMB-DARTEL analysis allowed to detect mainly white matter lesions. Both sq-MRI classification and q-BTS identified lesions of thalamus, brainstem, and basal ganglia. In particular, UCP patients with synergic hand pattern showed larger involvement of subcortical structures, as compared to those with semi-functional hand. Furthermore, sparing of gray matter in basal ganglia and thalamus was positively correlated with MUUL and AHA scores. Concerning white matter, q-BTS revealed a larger damage of fronto-striatal connections in patients with synergic hand, as compared to those with semi-functional hand. The volume of these connections was correlated to unimanual function (MUUL score). The fMRI results showed that all patients, but one, including those with cortical lesions, had activation in ipsilesional areas, regardless of lesion timing. Children with synergic hand showed more lateralized activation in the ipsilesional hemisphere both during grasping and simple movements, while children with semi-functional hand exhibited more bilateral activation during grasping. The study demonstrates that lesion localization, rather than lesion type based on the timing of their occurrence, is more associated with the functional level of hand manipulation. Overall, the preservation of subcortical structures and white matter can predict a better functional outcome. Future studies integrating different techniques (structural and functional imaging, TMS) could provide further evidence on the relation between brain reorganization and specific pattern of manipulation in UCP children.
The rehabilitation of paretic stroke patients uses a wide range of intervention programs to improve the function of impaired upper limb. A new rehabilitative approach, called action observation ...therapy (AOT) is based on the discovery of mirror neurons and has been used to improve the motor functions of adult stroke patients and children with cerebral palsy. Recently, virtual reality (VR) has provided the potential to increase the frequency and effectiveness of rehabilitation treatment by offering challenging and motivating tasks. METHODS: The purpose of the present project is to design a randomized controlled six-month follow-up trial (RCT) to evaluate whether action observation (AO) added to standard VR (AO + VR) is effective in improving upper limb function in patients with stroke, compared with a control treatment consisting of observation of naturalistic scenes (CO) without any action content, followed by VR training (CO + VR).
AO + VR treatment may provide an addition to the rehabilitative interventions currently available for recovery after stroke and could be utilized within standard sensorimotor training or in individualized tele-rehabilitation.
The trial has been prospectively registered on ClinicalTrials.gov. NCT05163210 . 17 December 2021.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Motor Imagery (MI) refers to mental simulation of a motor action without producing any overt movement. Previous studies showed that children with Unilateral Cerebral Palsy (UCP) are impaired in ...implicit MI, as demonstrated by the performance of Hand Laterality Judgment tasks. The aim of this study was to examine the specificity of explicit MI deficits in UCP children.
A group of UCP children (
= 10; aged 9-14) performed a mental chronometry task consisting in grasping an object and placing it into a container, or in imagining to perform the same action. As control, a group of typically developing (TD) children, matched by age, performed the same task. Movement durations for executed and imagined trials were recorded. A subgroup of 7 UCP children and 10 TD children also underwent a session of functional MRI to examine the activation of parieto-frontal areas typically associated to MI processes, during the imagination of reaching-grasping actions performed with the paretic hand.
Behavioral results revealed the existence of a correlation between executed and imagined movement durations both in TD and UCP groups. Moreover, the regression analysis in TD children showed that higher scores in mental chronometry tasks were positively correlated to increased bilateral activation of the intraparietal sulcus (IPS), superior parietal lobule (SPL), and dorsal premotor (PMd) cortex. A similar analysis revealed in the UCP group a positive correlation between a higher score in the mental chronometry task and bilateral activations of IPS, and to activation of contralesional, right PMd, and putamen during imagination of grasping movements.
These results provide new insights on the relationship between MI capacity and motor deficits in UCP children, suggesting the possibility of the use of explicit MI training to improve patient's upper limb motor functions.
Jugular foramen (JF) metastasis is rare and often presents as JF syndrome. A 73-year-old male complained of left-sided mastoid pain that irradiated to the neck since the past 3 months. Onset of ...facial nerve (FN) palsy and persistence of the symptomatology despite corticosteroid therapy demanded radiologic evaluation. Computed tomography and magnetic resonance imaging showed a wide osteolytic lesion of the left JF with involvement of the third segment of the FN. The patient underwent transmastoid incisional biopsy. Histopathological examination showed an adenocarcinoma that was suggested to be of respiratory origin. A primary pulmonary lesion and metastasis to other sits were detected. The patient died 1 month after the initiation of the chemotherapy. Persistent mastoid pain and progressive FN palsy must be considered indicative of JF malignant lesions. Despite early diagnosis, secondary lesions of the JF are characterized by a poor prognosis; however, accurate diagnosis may avoid unnecessary aggressive surgery.
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP ...from 3 unrelated families with variants in TBC1D32, which to date has never been associated with an IRD. To validate TBC1D32 as a putative RP causative gene, we combined Xenopus in vivo approaches and human induced pluripotent stem cell-derived (iPSC-derived) retinal models. Our data showed that TBC1D32 was expressed during retinal development and that it played an important role in retinal pigment epithelium (RPE) differentiation. Furthermore, we identified a role for TBC1D32 in ciliogenesis of the RPE. We demonstrated elongated ciliary defects that resulted in disrupted apical tight junctions, loss of functionality (delayed retinoid cycling and altered secretion balance), and the onset of an epithelial-mesenchymal transition-like phenotype. Last, our results suggested photoreceptor differentiation defects, including connecting cilium anomalies, that resulted in impaired trafficking to the outer segment in cones and rods in TBC1D32 iPSC-derived retinal organoids. Overall, our data highlight a critical role for TBC1D32 in the retina and demonstrate that TBC1D32 mutations lead to RP. We thus identify TBC1D32 as an IRD-causative gene.
Pralsetinib and selpercatinib are two highly potent and selective rearranged during transfection (RET) inhibitors that substantially improved the clinical outcome of patients with RET-rearranged ...non-small cell lung cancer. Treatment with one RET inhibitor after failure of the other is generally not recommended because of cross-resistance mechanisms. We report the case of a patient affected by metastatic RET-rearranged non-small cell lung cancer who experienced long-lasting disease control with pralsetinib. After 13 months from treatment start, the patient developed recurrent drug-related pneumonitis, requiring temporary interruptions and dose reductions and eventually failing to control the disease. Selpercatinib was then started as an off-label treatment, allowing both clinical and radiological intracranial disease control. Selpercatinib was well-tolerated at full dosage, and no pulmonary event occurred. In our case report, after pralsetinib dose reduction due to pulmonary toxicity, the therapeutic switch to selpercatinib allowed the patient to receive a full-dose treatment, eventually restoring disease control. Our case report and a few literature data suggest that switching from pralsetinib to selpercatinib may represent a therapeutic opportunity, especially for patients with brain metastases.
Purpose
To determine whether half of the approved dose of gadobenate dimeglumine (MultiHance) is as effective as a full dose of gadoterate meglumine (Dotarem) for qualitative and quantitative ...cerebral blood volume (CBV) perfusion evaluation at 3T in patients with brain gliomas.
Materials and Methods
We enrolled 65 adult patients in an interindividual comparative study. Patients were randomized to one of two study arms: 33 patients received 0.1 mmol/kg body weight (bw) of gadoterate, 32 patients received 0.05 mmol/kg bw of gadobenate. The patients underwent identical examinations at 3T. Arterial input function (AIF), tissue function (TF), and the maximum tumor CBV (CBV_T) were obtained from each patient. The quality of the CBV maps were independently reviewed by two neuroradiologists blinded to the administered contrast agent.
Results
The administration of a half dose of gadobenate led to a roughly 40% reduction in signal drop compared to that achieved with a full dose of gadoterate (P values for AIF and TF maximum and integral were <0.01); quantitative and qualitative assessment of CBV maps revealed no difference between contrast agents (P values for CBV_T of high‐ and low‐grade gliomas, image quality evaluation were 0.87, 0.48, >0.65, respectively)
Conclusion
The CBV maps obtained with a half dose gadobenate (0.05 mmol/kg bw) are of comparable diagnostic quality as the corresponding images acquired with a full dose of gadoterate (0.1 mmol/kg bw).
Level of Evidence: 2
J. Magn. Reson. Imaging 2017;45:500–506.
Purpose
To report our experience with a case of a very atypical clinical onset of multiple sclerosis in a young boy during a COVID-19 infection.
Case report
A 16-year-old boy was referred to our ...ophthalmology clinic with a complete isolated bilateral horizontal gaze palsy. The condition had onset suddenly 2 weeks prior and he had no associated symptoms, as well as no significant medical history. His corrected visual acuity was 0.0 logMAR in both eyes. While hospitalized, he was found infected with COVID-19. Subsequent brain MRI showed multiple lesions typical of a yet undiagnosed MS, as well as an active pontine plaque which was highly probable the cause of the horizontal gaze palsy. High-dose steroid treatment was initiated 1 week later, after the patient exhibited negative COVID-19 test results.
Conclusion
Clinical manifestations of MS are rarely seen in male teenagers and only a few cases of isolated bilateral horizontal gaze palsy have been reported as the initial manifestation, but never during concomitant COVID-19 infection. We presume that the presence of COVID-19 may have been a neuroinflammatory trigger of underlying MS.
•The literature reports a wide variability of different symptoms in Gerstmann’s syndrome.•We describe a patient who shows all four aspects of the syndrome and autotopoagnosia.•Our data suggest that ...white matter damage could be sufficient to produce Gerstmann's syndrome.
We describe the case of a bilingual patient with persistent symptoms largely, although not fully, consistent with those that are usually reported in Gerstmann’s syndrome. Twenty months after a spontaneous primary intracranial hemorrhage, the patient was evaluated with a series of neuropsychological tasks and underwent an MRI investigation based on Diffusion Tensor Imaging probabilistic tractography. The patient suffered from dysgraphia (difficulty in the access to the graphemic representation of letter forms), autotopoagnosia (difficulties in locating body parts on verbal command), right–left confusion (difficulties in localizing right and left side of symmetrical body parts), and number processing/calculation impairments (predominant difficulties on transcoding tasks). Probabilistic tractography revealed a relatively spared superior longitudinal fasciculus and severe damage to the subcortical white matter connecting the angular gyrus with other parietal regions, such as the intraparietal sulcus and the supramarginal gyrus. Within the framework of the contemporary cognitive accounts of Gerstmann’s syndrome, the case supports the assumption of an anatomical intraparietal disconnection more than a functional Grundstörung (core impairment).
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