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Lorenzo Figà Talamanca: Methodology, Writing -review & editing. Elisa Placidi: Writing -review & editing. ...doi:10.1016/j.neuroimage.2021.118234 pmid:34091031 fatcat:bul6servdjfrjiyhcfsqqsrdmu
Background/Objective: The aim of the study was to estimate the rate of evolution or for multiple sclerosis (MS), after a first acute demyelinating event (ADE) in pediatric patients, and to investigate the variables that predict this evolution. Methods: We retrospectively evaluated the clinical and neuroradiological features of children who presented a first ADE between January 2005 and April 2017. All patients included underwent a baseline MRI, a cerebrospinal fluid and blood analysis,doi:10.3389/fneur.2018.01156 pmid:30697184 pmcid:PMC6340959 fatcat:qovwlzlfunaezmyevmjxmxc4yq
more »... virological examinations. The evolution into MS was determined by the 2013 International Pediatric Multiple Sclerosis Study Group (IPMSSG) criteria. Clinical and radiological features predictive of MS were determined using multivariate analyses. Results: Ninety-one patients were selected (mean age at onset: 10.11 ± 4.6). After a mean follow-up of 5.6 ± 2.3 years, 35% of patients' conditions evolved to MS. In the logistic multivariate analysis of clinical and laboratory data, the best predictors of evolution into MS were: the presence of oligoclonal bands in CSF (p < 0.001), past infection with EBV (p < 0.001), periventricular lesions (p < 0.001), hypointense lesions on T1 (p < 0.001), and lesions of the corpus callosum (p < 0.001) including Dawson fingers (p < 0.001). Conclusion: Our findings suggest that a pattern of neuroimaging and laboratory findings may help to distinguish between, at clinical onset, children with a monophasic syndrome (clinically isolated syndrome or acute disseminated encephalomyelitis) from those who will develop MS.
More than a year has passed since the report of the first case of coronavirus disease 2019 (COVID), and increasing deaths continue to occur. Minimizing the time required for resource allocation and clinical decision making, such as triage, choice of ventilation modes and admission to the intensive care unit is important. Machine learning techniques are acquiring an increasingly sought-after role in predicting the outcome of COVID patients. Particularly, the use of baseline machine learningdoi:10.3390/jpm11090893 pmid:34575670 pmcid:PMC8467935 fatcat:jtff7snhczbvxnctsyoocmbkvq
more »... iques is rapidly developing in COVID mortality prediction, since a mortality prediction model could rapidly and effectively help clinical decision-making for COVID patients at imminent risk of death. Recent studies reviewed predictive models for SARS-CoV-2 diagnosis, severity, length of hospital stay, intensive care unit admission or mechanical ventilation modes outcomes; however, systematic reviews focused on prediction of COVID mortality outcome with machine learning methods are lacking in the literature. The present review looked into the studies that implemented machine learning, including deep learning, methods in COVID mortality prediction thus trying to present the existing published literature and to provide possible explanations of the best results that the studies obtained. The study also discussed challenging aspects of current studies, providing suggestions for future developments.
Neuromyelitis Optica Spectrum Disorder (NMOSD) is a central nervous system (CNS) inflammatory demyelinating disease characterized by recurrent inflammatory events that primarily involve optic nerves and the spinal cord, but also affect other regions of the CNS, including hypothalamus, area postrema and periaqueductal gray matter. The aquaporin-4 antibody (AQP4-IgG) is specific for NMOSD. Recently, myelin oligodendrocyte glycoprotein antibodies (MOG-IgG) have been found in a group of AQP4-IgGdoi:10.3390/life12010019 pmid:35054412 pmcid:PMC8779266 fatcat:zuwkdpl5ivg7dajbaty74atrfm
more »... ative patients. NMOSD is rare among children and adolescents, but early diagnosis is important to start adequate therapy. In this report, we present cases of seven pediatric patients with NMOSD and we review the clinical and neuroimaging characteristics, diagnosis, and treatment of NMOSD in children.
BMC Medical Genetics
Kabuki syndrome is a rare disorder characterized by the association of mental retardation and postnatal growth deficiency with distinctive facial appearance, skeletal anomalies, cardiac and renal malformation. Two causative genes have been identified in patients with Kabuki syndrome. Mutation of KMT2D (MLL2) was identified in 55-80 % of patients, while 9-14 % of KMT2D negative patients have mutation in KDM6A gene. So far, few tumors have been reported in patients with Kabuki syndrome. Wedoi:10.1186/s12881-015-0228-4 pmid:26341229 pmcid:PMC4560867 fatcat:42qluoiddjdxzoj2sdbfrmp3ky
more »... e the first case of a patient with spinal ependymoma and Kabuki syndrome. Case presentation: A 23 years old girl followed at our Center for KMT2D mutated Kabuki syndrome since she was 4 years old presented with acute lumbar pain and intermittent tactile hyposthenia of the feet. Spine magnetic resonance revealed a lumbar endocanalar mass. She underwent surgical resection of the lesion and histologic examination showed a tanycytic ependymoma (WHO grade II). Conclusion: Kabuki syndrome is not considered a cancer predisposition syndrome. Nonetheless, a number of tumors have been reported in patients with Kabuki syndrome. Spinal ependymoma is a rare disease in the pediatric and young adult population. Whereas NF2 mutations are frequently associated to ependymoma such an association has never been described in Kabuki syndrome. To our knowledge this is the first case of ependymoma in a KMT2D mutated Kabuki syndrome patient. Despite KMT2D role in cancer has previously been described, no genetic data are available for previously reported Kabuki syndrome patients with tumors. Nonetheless, the association of two rare diseases raises the suspicion for a common determinant.
Congenital infections represent a challenging and varied clinical scenario in which the brain is frequently involved. Therefore, fetal and neonatal neuro-imaging plays a pivotal role in reaching an accurate diagnosis and in predicting the clinical outcome. Congenital brain infections are characterized by various clinical manifestations, ranging from nearly asymptomatic diseases to syndromic disorders, often associated with severe neurological symptoms. Brain damage results from the complexdoi:10.3390/children9081210 pmid:36010101 pmcid:PMC9406729 fatcat:y2pjwkharzgy3km5dmbsc3s6am
more »... action among the infectious agent, its specific cellular tropism, and the stage of development of the central nervous system at the time of the maternal infection. Therefore, neuroradiological findings vary widely and are the result of complex events. An early detection is essential to establishing a proper diagnosis and prognosis, and to guarantee an optimal and prompt therapeutic perinatal management. Recently, emerging infective agents (i.e., Zika virus and SARS-CoV2) have been related to possible pre- and perinatal brain damage, thus expanding the spectrum of congenital brain infections. The purpose of this pictorial review is to provide an overview of the current knowledge on fetal and neonatal brain neuroimaging patterns in congenital brain infections used in clinical practice.
Ganglioglioma (GG) and pilocytic astrocytoma (PA) represent the most frequent low-grade gliomas (LGG) occurring in paediatric age. LGGs not amenable of complete resection (CR) represent a challenging subgroup where traditional treatments often fail. Activation of the MAP Kinase (MAPK) pathway caused by the BRAFV600E mutation or the KIAA1549-BRAF fusion has been reported in pediatric GG and PA, respectively. Case presentation We report on a case of BRAFV600E mutated cervicomedullary GG treateddoi:10.1186/s12967-014-0356-1 pmid:25524464 pmcid:PMC4279809 fatcat:t3qmi3lsh5gf5gmvy7gpiaisvq
more »... th standard chemotherapy and surgery. After multiple relapse, BRAF status was analyzed by immunohistochemistry and sequencing showing a BRAFV600E mutation. Treatment with Vemurafenib as single agent was started. For the first time, a radiological and clinical response was obtained after 3 months of treatment and sustained after 6 months.
Neuromyelitis optica is an immune-mediated disease characterized by a relapsing course, resulting in progressive disability. In children, given the long life expectancy, a disease-modifying treatment could be particularly desirable. Unfortunately, the currently available treatment strategies with this potential are scarce. Very limited data are available about the use of allogeneic hematopoietic stem cell transplantation (HSCT) for autoimmune neurological diseases. In this report, we present adoi:10.1002/acn3.50843 pmid:31529689 pmcid:PMC6801170 fatcat:b5wfdr7ztvhu3aqfj5bpr65j7i
more »... ediatric case successfully treated with allogeneic HSCT from an HLA-haploidentical donor, after ex vivo TCR/CD19-depletion of the graft. To the best of our knowledge, this is the first case of a pediatric patient to benefit from such a treatment.
A-B. Initial MRI at presentation. a. Axial postcontrast T1-weighted image shows a solid, avidly enhancing lesion at the CN III origin, anterior to the right cerebral peduncle. b. Axial ADC image shows iso-to hypo-intense signal within the mass and moderately increased signal within adjacent brainstem parenchyma, indicating edema. C-D. Follow-up MRI 1 week after presentation. c. Axial postcontrast T1-weighted image and (d.) precontrast ADC image show slight interval growth of the mass despitedoi:10.1007/s11060-015-1787-0 pmid:26148473 pmcid:PMC4651015 fatcat:5jpzrqd2ofdkzhmxchs7qg6r7y
more »... very short follow-up interval. Oh et al. E-F. Follow-up MRI 1 month after presentation. e. Axial postcontrast T1-weighted image and (f.) precontrast ADC image clearly demonstrate interval growth of the lesion, with two new remote foci of abnormal contrast enhancement-one in the right ambient cistern (arrowhead) and one in the olfactory region in the medline (arrowhead)-suggestive of leptomeningeal dissemination. G-H. Follow-up MRI 5 weeks after presentation. g. Axial postcontrast T1-weighted image and (h.) precontrast ADC image show further interval growth of both the primary lesion and the metastatic deposit. Oh et al.
There is growing interest in studying human brain connectivity and in modelling the brain functional structure as a network. Brain network creation requires parcellation of the cerebral cortex to define nodes. Parcellation might be affected by possible errors due to inter- and intra-subject variability as a consequence of brain structural and physiological characteristics and shape variations related to ageing and diseases, acquisition noise, and misregistration. These errors could induce adoi:10.3389/fnins.2021.736524 pmid:35250432 pmcid:PMC8894326 fatcat:tzhmlntmcjfkzgvtitzgq6dhnq
more »... k-on effect on network measure variability. The aim of this study was to investigate spatial stability, a measure of functional connectivity variations induced by parcellation errors. We simulated parcellation variability with random small spatial changes and evaluated its effects on twenty-seven graph-theoretical measures. The study included subjects from three public online datasets. Two brain parcellations were performed using FreeSurfer with geometric atlases. Starting from these, 100 new parcellations were created by increasing the area of 30% of parcels, reducing the area of neighbour parcels, with a rearrangement of vertices. fMRI data were filtered with linear regression, CompCor, and motion correction. Adjacency matrices were constructed with 0.1, 0.2, 0.3, and 0.4 thresholds. Differences in spatial stability between datasets, atlases, and threshold were evaluated. The higher spatial stability resulted for Characteristic-path-length, Density, Transitivity, and Closeness-centrality, and the lower spatial stability resulted for Bonacich and Katz. Multivariate analysis showed a significant effect of atlas, datasets, and thresholds. Katz and Bonacich centrality, which was subject to larger variations, can be considered an unconventional graph measure, poorly implemented in the clinical field and not yet investigated for reliability assessment. Spatial stability (SS) is affected by threshold, and it decreases with increasing threshold for several measures. Moreover, SS seems to depend on atlas choice and scanning parameters. Our study highlights the importance of paying close attention to possible parcellation-related spatial errors, which may affect the reliability of functional connectivity measures.
Annals of Neurology
Knowledge about the balance between heritable and nonheritable risk in multiple sclerosis (MS) is based on twin studies in high-prevalence areas. In a study that avoided ascertainment limitations and directly compared continental Italy (medium-prevalence) and Sardinia (high-prevalence), we ascertained 216 pairs from 34,549 patients. This gives a twinning rate of 0.62% among MS patients, significantly less than that of the general population. In continental Italy, probandwise concordance wasdoi:10.1002/ana.20683 pmid:16240370 fatcat:edsewndxcne6bg2firfw72246e
more »... % (95% confidence interval, 5.1-23.8) for monozygotic and 4.0% (95% confidence interval, 0.8 -7.1) for dizygotic twins. Results in Sardinia resemble those in northern populations but in limited numbers. Monozygotic concordance was 22.2% (95% confidence interval, 0 -49.3) probandwise, but no concordant dizygotic pairs were identified. A questionnaire on 80 items possibly related to disease cause was administered to 70 twin pairs, 135 sporadic patients, and 135 healthy volunteers. Variables positively (7) or negatively (2) associated with predisposition and concordance in twins largely overlapped and were mainly linked to infection. If compared with previous studies, our data demonstrate that penetrance in twins appears to correlate with MS prevalence. They highlight the relevance of nonheritable variables in Mediterranean areas. The apparent underrepresentation of MS among Italian twins draws attention to protective factors, shared by twins, that may influence susceptibility.
There were typographical errors in the Results section of the article. The following values (mean ± standard deviation) are correct: Mean globus pallidus:thalamus signal intensities at the first and the last MR examination were 1.05 ± 0.01 and 1.09 ± 0.01, respectively. Mean dentate nucleus:pons signal intensities at the first and last MR examinations were 0.94 ± 0.04 and 1.01 ± 0.04, respectively. These results form four of the data points in Fig. 2 in the article, and this figure is correctdoi:10.1007/s00247-017-3950-6 pmid:28821897 fatcat:q6xropzv7vejfg3nl7a5tz46gm
more »... published. All remaining results and statistical analyses are correct as published. The online version of the original article can be found at http://dx.
Background Migraine is the most common neurological disease, with high social-economical burden. Although there is growing evidence of brain structural and functional abnormalities in patients with migraine, few studies have been conducted on children and no studies investigating cortical gyrification have been conducted on pediatric patients affected by migraine without aura. Methods Seventy-two pediatric patients affected by migraine without aura and eighty-two controls aged between 6 and 18doi:10.1186/s10194-021-01290-y pmid:34294048 pmcid:PMC8296718 fatcat:uurtowfklrevbk7k3c54eg2w3q
more »... ere retrospectively recruited with the following inclusion criteria: MRI exam showing no morphological or signal abnormalities, no systemic comorbidities, no abnormal neurological examination. Cortical thickness (CT) and local gyrification index (LGI) were obtained through a dedicated algorithm, consisting of a combination of voxel-based and surface-based morphometric techniques. The statistical analysis was performed separately on CT and LGI between: patients and controls; subgroups of controls and subgroups of patients. Results Patients showed a decreased LGI in the left superior parietal lobule and in the supramarginal gyrus, compared to controls. Female patients presented a decreased LGI in the right superior, middle and transverse temporal gyri, right postcentral gyrus and supramarginal gyrus compared to male patients. Compared to migraine patients younger than 12 years, the ≥ 12-year-old subjects showed a decreased CT in the superior and middle frontal gyri, pre- and post-central cortex, paracentral lobule, superior and transverse temporal gyri, supramarginal gyrus and posterior insula. Migraine patients experiencing nausea and/or vomiting during headache attacks presented an increased CT in the pars opercularis of the left inferior frontal gyrus. Conclusions Differences in CT and LGI in patients affected by migraine without aura may suggest the presence of congenital and acquired abnormalities in migraine and that migraine might represent a vast spectrum of different entities. In particular, ≥ 12-year-old pediatric patients showed a decreased CT in areas related to the executive function and nociceptive networks compared to younger patients, while female patients compared to males showed a decreased CT of the auditory cortex compared to males. Therefore, early and tailored therapies are paramount to obtain migraine control, prevent cerebral reduction of cortical thickness and preserve executive function and nociception networks to ensure a high quality of life.
Turkey Reviewed by: Gholamreza Azizi, Alborz University of Medical Sciences, Iran Tadashi Ariga, Hokkaido University, Japan Copyright © 2021 Romani, Williamson, Di Cesare, Di Matteo, De Luca, Carsetti, Figà-Talamanca ... cryptococcal meningoencephalitis, post-infectious inflammatory response syndrome, primary immunodeficiency, fungal infection Citation: Romani L, Williamson PR, Di Cesare S, Di Matteo G, De Luca M, Carsetti R, Figà-Talamanca ...doi:10.3389/fimmu.2021.708837 pmid:34335625 pmcid:PMC8320724 fatcat:gw7divn43javjcqh24q77zsy7a
for the crypto-asset price dynamics based on the correlation matrix between the observed returns that is filtered from noise and employed to derive a clustering structure among prices; Cretarola and Figà-Talamanca ... D'Amato, Di Lorenzo, Haberman, Sibillo and Tizzano conceptualize a contract based on real estate rights for having a life annuity in exchange of a single premium. ...doi:10.1007/s10479-021-03958-9 fatcat:hhn5u5i55naddae7tysvq6e5im
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