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1.
J Med Genet ; 57(3): 151-159, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31506323

RESUMO

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is considered as the genetic model of schizophrenia. However, its polymorphic nature has led researchers to further investigate its neuropsychiatric manifestations. METHODS: We enrolled 56 adults (38 men, 18 women) diagnosed with 22q11.2DS. All subjects were evaluated by a multidisciplinary team. The neuropsychiatric features were investigated by means of clinical and neurophysiological evaluation (video-EEG). RESULTS: Thirty per cent of our patients were left-handed. Fifty-eight per cent had a low IQ, and 22 of 56 subjects had psychotic disorders (13 of 22 with schizophrenia). Eighteen patients reported at least one seizure in their lifetime, and ten were diagnosed with epilepsy; among them, seven had genetic generalised epilepsy (GGE), and five of seven showed features suggestive of juvenile myoclonic epilepsy (JME). Video-EEG recordings revealed generalised epileptiform abnormalities in 24 of 56 cases. Besides, only one patient with epilepsy had a cardiac malformation. Lastly, 31 of 56 subjects presented with parkinsonism, 16 of whom were taking neuroleptics. None of the 15 patients with parkinsonism not related to neuroleptic therapy was diagnosed with epilepsy, compared with 6 of those taking antipsychotics. CONCLUSIONS: 22q11.2DS is characterised by left-handedness and neuropsychiatric features such as cognitive impairment, schizophrenia, epilepsy and parkinsonism. GGE, mostly the JME phenotype, is the predominant epilepsy type. The significant association between 22q11.2DS and parkinsonian features confirms these patients' genetic susceptibility to parkinsonism. Despite the lack of any conclusive evidence, our study suggests a possible relationship between the analysed clinical variables: (1) an inverse correlation between low IQ/psychosis/epilepsy and major cardiac diseases; (2) a direct association between psychosis and both mental delay and epilepsy; and (3) an inverse correlation between parkinsonism and epilepsy.


Assuntos
Síndrome de DiGeorge/genética , Epilepsias Mioclônicas/genética , Transtornos Parkinsonianos/genética , Esquizofrenia/genética , Adolescente , Adulto , Síndrome de DiGeorge/fisiopatologia , Epilepsias Mioclônicas/fisiopatologia , Feminino , Lateralidade Funcional/fisiologia , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Parkinsonianos/fisiopatologia , Fenótipo , Esquizofrenia/fisiopatologia , Adulto Jovem
2.
BMC Neurol ; 20(1): 258, 2020 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-32600288

RESUMO

BACKGROUND: Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group of clinically overlapping hypomyelinating leukodystrophies (HL) has been associated with mutations in RNA polymerase III enzymes (Pol III) subunits. CASE PRESENTATION: In this manuscript, we describe two Italian siblings carrying a novel POLR3A genotype. MRI imaging, genetic analysis, and clinical data led to diagnosing HL type 7. The female sibling, at the age of 34, is tetra-paretic and suffers from severe cognitive regression. She had a disease onset at the age of 19, characterized by slow and progressive cognitive impairment associated with gait disturbances and amenorrhea. The male sibling was diagnosed during an MRI carried out for cephalalgia at the age of 41. After 5 years, he developed mild cognitive impairment, dystonia with 4-limb hypotonia, and moderate dysmetria with balance and gait impairment. CONCLUSIONS: The present study provides the first evidence of unusually late age of onset in HL, describing two siblings with a novel POLR3A genotype which showed the first symptoms at the age of 41 and 19, respectively. This provides a powerful insight into clinical heterogeneity and genotype-phenotype correlation in POLR3A related HL.


Assuntos
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética , RNA Polimerase III/genética , Adulto , Idade de Início , Encéfalo/patologia , Feminino , Genótipo , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação , Irmãos , Substância Branca/patologia
3.
Eur Arch Otorhinolaryngol ; 276(11): 3043-3049, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31410545

RESUMO

PURPOSE: Sudden sensorineural hearing loss (SSNHL) has similarities to conditions with vascular etiologies such as myocardial infarction and cerebral stroke. Thus, it could be considered as an early sign of a vascular disease and not only a specific local condition. Chronic hypoperfusion in the brain districts leads to a chronic ischemic damage, called cerebral small vessel disease (CSVD), detectable with brain magnetic resonance imaging (MRI). METHODS: The authors used CSVD to establish the presence of vascular risk factors in individuals with SSNHL and used the Fazekas score scale to classify them. RESULTS: Our study showed that individuals with SSNHL aged between 48 and 60 years have 26% more probability to have a Fazekas score higher than 1 compared to the general population. Individuals younger than 28 years showed a statistically significant negative correlation to have a Fazekas score higher than 0. The higher is the Fazekas score, the less is the probability of hearing recovery. The medium hearing-recovery probability is 46%. This decreases by 16% for every increase of score in the Fazekas scale. In the present study, the recovery probability decreased from 80% in individuals younger than 48 years with a score of 0 to 14% in individuals with a Fazekas scores of 3 and 4. CONCLUSIONS: The authors assessed a higher prevalence of CSVD compared to the general population in patients aged between 48 and 60 years with SSNHL. Moreover, they assessed that the presence of CSVD is related to a decreased probability of recovery, as it has already been demonstrated for stroke.


Assuntos
Encéfalo/patologia , Doenças de Pequenos Vasos Cerebrais/complicações , Doenças Cocleares/etiologia , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Súbita/etiologia , Imageamento por Ressonância Magnética , Substância Branca/patologia , Adolescente , Adulto , Fatores Etários , Idoso , Encéfalo/diagnóstico por imagem , Estudos de Casos e Controles , Doenças de Pequenos Vasos Cerebrais/diagnóstico por imagem , Doenças de Pequenos Vasos Cerebrais/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Substância Branca/diagnóstico por imagem , Adulto Jovem
4.
Eur Arch Otorhinolaryngol ; 276(12): 3521, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31506841

RESUMO

In the original publication, fifth author's surname was incorrectly published as "Diacinto". The correct surname should read as "Diacinti".

5.
Cephalalgia ; 38(5): 846-854, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-28605972

RESUMO

Background Previous functional MRI studies have revealed that ongoing clinical pain in different chronic pain syndromes is directly correlated to the connectivity strength of the resting default mode network (DMN) with the insula. Here, we investigated seed-based resting state DMN-insula connectivity during acute migraine headaches. Methods Thirteen migraine without aura patients (MI) underwent 3 T MRI scans during the initial six hours of a spontaneous migraine attack, and were compared to a group of 19 healthy volunteers (HV). We evaluated headache intensity with a visual analogue scale and collected seed-based MRI resting state data in the four core regions of the DMN: Medial prefrontal cortex (MPFC), posterior cingulate cortex (PCC), and left and right inferior parietal lobules (IPLs), as well as in bilateral insula. Results Compared to HV, MI patients showed stronger functional connectivity between MPFC and PCC, and between MPFC and bilateral insula. During migraine attacks, the strength of MPFC-to-insula connectivity was negatively correlated with pain intensity. Conclusion We show that greater subjective intensity of pain during a migraine attack is associated with proportionally weaker DMN-insula connectivity. This is at variance with other chronic extra-cephalic pain disorders where the opposite was found, and may thus be a hallmark of acute migraine head pain.


Assuntos
Dor Aguda/diagnóstico por imagem , Córtex Cerebral/diagnóstico por imagem , Giro do Cíngulo/diagnóstico por imagem , Transtornos de Enxaqueca/diagnóstico por imagem , Lobo Parietal/diagnóstico por imagem , Córtex Pré-Frontal/diagnóstico por imagem , Dor Aguda/fisiopatologia , Adulto , Mapeamento Encefálico , Córtex Cerebral/fisiopatologia , Estudos de Coortes , Epilepsia , Feminino , Giro do Cíngulo/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Transtornos de Enxaqueca/fisiopatologia , Lobo Parietal/fisiopatologia , Córtex Pré-Frontal/fisiopatologia , Adulto Jovem
6.
Neurol Sci ; 39(4): 671-677, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29383618

RESUMO

Despite review papers claim for radical treatment of oligometastatic patients, only few surgical series have been published. In this study, we analyze results and actual role of surgical resection for the management of patients with multiple brain metastases. This retrospective study compares surgical results of two groups of patients consecutively treated in our Institute from January 2004 to June 2015. The first group comprises all 32 patients with multiple brain metastases with only 2-3 lesions who underwent surgical resection of all lesions; the second group comprises 30 patients with a single surgically treated brain mestastasis compatible with the first group (match-paired control series). Median survival was 14.6 months for patients with multiple brain metastases (range 1-28 months) and 17.4 months for patients with a single brain metastasis (range 4-38 months); the difference was not statistically significant (P = 0.2). Neurological condition improved in 59.4% of patients with multiple metastases, it remained unchanged in 37.5% and worsened in 3.1%. In our series, selected patients with only 2-3 lesions with well-controlled systemic disease, life expectancy of more than 3 months, Karnofsky's performance status > 60, and surgically accessible lesions, benefited from surgical treatment in terms of survival and quality of life, with reduction or disappearance of significant neurological deficits. The prognosis for these patients is similar to that of patients with a single metastasis. It seems that patients with breast cancer included in our series had the worst prognosis if compared to other histotypes.


Assuntos
Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/cirurgia , Metástase Neoplásica/diagnóstico , Metástase Neoplásica/patologia , Procedimentos Neurocirúrgicos , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/patologia , Neoplasias da Mama/complicações , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Irradiação Craniana/métodos , Feminino , Humanos , Avaliação de Estado de Karnofsky , Masculino , Pessoa de Meia-Idade , Prognóstico , Qualidade de Vida , Estudos Retrospectivos , Técnicas Estereotáxicas
7.
J Neurosci ; 36(29): 7727-39, 2016 07 20.
Artigo em Inglês | MEDLINE | ID: mdl-27445149

RESUMO

UNLABELLED: The blood-brain barrier is a highly selective anatomical and functional interface allowing a unique environment for neuro-glia networks. Blood-brain barrier dysfunction is common in most brain disorders and is associated with disease course and delayed complications. However, the mechanisms underlying blood-brain barrier opening are poorly understood. Here we demonstrate the role of the neurotransmitter glutamate in modulating early barrier permeability in vivo Using intravital microscopy, we show that recurrent seizures and the associated excessive glutamate release lead to increased vascular permeability in the rat cerebral cortex, through activation of NMDA receptors. NMDA receptor antagonists reduce barrier permeability in the peri-ischemic brain, whereas neuronal activation using high-intensity magnetic stimulation increases barrier permeability and facilitates drug delivery. Finally, we conducted a double-blind clinical trial in patients with malignant glial tumors, using contrast-enhanced magnetic resonance imaging to quantitatively assess blood-brain barrier permeability. We demonstrate the safety of stimulation that efficiently increased blood-brain barrier permeability in 10 of 15 patients with malignant glial tumors. We suggest a novel mechanism for the bidirectional modulation of brain vascular permeability toward increased drug delivery and prevention of delayed complications in brain disorders. SIGNIFICANCE STATEMENT: In this study, we reveal a new mechanism that governs blood-brain barrier (BBB) function in the rat cerebral cortex, and, by using the discovered mechanism, we demonstrate bidirectional control over brain endothelial permeability. Obviously, the clinical potential of manipulating BBB permeability for neuroprotection and drug delivery is immense, as we show in preclinical and proof-of-concept clinical studies. This study addresses an unmet need to induce transient BBB opening for drug delivery in patients with malignant brain tumors and effectively facilitate BBB closure in neurological disorders.


Assuntos
Barreira Hematoencefálica/efeitos dos fármacos , Ácido Glutâmico/uso terapêutico , Fármacos Neuroprotetores/uso terapêutico , 4-Aminopiridina/toxicidade , Adulto , Idoso , Animais , Barreira Hematoencefálica/diagnóstico por imagem , Neoplasias Encefálicas/complicações , Modelos Animais de Doenças , Método Duplo-Cego , Feminino , Glioblastoma/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Permeabilidade/efeitos dos fármacos , Bloqueadores dos Canais de Potássio/toxicidade , Ratos , Ratos Sprague-Dawley , Convulsões/induzido quimicamente , Acidente Vascular Cerebral/induzido quimicamente , Resultado do Tratamento
8.
Epilepsy Behav ; 68: 51-56, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28109990

RESUMO

Vertigo and dizziness are extremely common complaints, related to either peripheral or central nervous system disorders. Among the latter, epilepsy has to be taken into consideration: indeed, vertigo may be part of the initial aura of a focal epileptic seizure in association with other signs/symptoms, or represent the only ictal manifestation, a rare phenomenon known as "vertiginous" or "vestibular" seizure. These ictal symptoms are usually related to a discharge arising from/involving temporal or parietal areas, which are supposed to be a crucial component of the so-called "vestibular cortex". In this paper, we describe three patients suffering from drug-resistant focal epilepsy, symptomatic of malformations of cortical development or perinatal hypoxic/ischemic lesions located in the posterior regions, who presented clusters of vertiginous seizures. The high recurrence rate of such events, recorded during video-EEG monitoring sessions, offered the opportunity to perform an ictal EEG/fMRI study to identify seizure-related hemodynamic changes. The ictal EEG/fMRI revealed the main activation clusters in the temporo-parieto-occipital regions, which are widely recognized to be involved in the processing of vestibular information. Interestingly, ictal deactivation was also detected in the ipsilateral cerebellar hemisphere, suggesting the ictal involvement of cortical-subcortical structures known to be part of the vestibular integration network.


Assuntos
Córtex Cerebral/diagnóstico por imagem , Eletroencefalografia , Imageamento por Ressonância Magnética , Convulsões/diagnóstico por imagem , Adulto , Córtex Cerebral/fisiopatologia , Feminino , Humanos , Pessoa de Meia-Idade , Convulsões/fisiopatologia
9.
J Stroke Cerebrovasc Dis ; 26(10): 2082-2086, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28579509

RESUMO

BACKGROUND: Intracerebral hemorrhage can be classified as either primary or secondary to various conditions such as vascular anomalies or stroke. We present a case of real-time incident detected on digital subtraction angiography (DSA) during thrombectomy in a patient with acute variable M1 occlusion. MATERIALS AND METHODS: A comprehensive literature search of the PubMed and Scopus databases was conducted: this is the first real-time visualization using DSA of a basal ganglia hematoma formation secondary to distal multifocal bleeding points just before a thrombectomy in a patient with acute variable M1 occlusion. CONCLUSION: We suggest that the positions of the clot before and during the procedure be compared always.


Assuntos
Doença Cerebrovascular dos Gânglios da Base/etiologia , Hemorragia dos Gânglios da Base/etiologia , Infarto da Artéria Cerebral Média/terapia , Trombectomia/efeitos adversos , Doença Aguda , Angiografia Digital , Doença Cerebrovascular dos Gânglios da Base/diagnóstico por imagem , Hemorragia dos Gânglios da Base/diagnóstico por imagem , Angiografia Cerebral/métodos , Angiografia por Tomografia Computadorizada , Embolização Terapêutica , Humanos , Infarto da Artéria Cerebral Média/complicações , Infarto da Artéria Cerebral Média/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Resultado do Tratamento
10.
Arch Ital Biol ; 155(4): 142-151, 2017 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-29405031

RESUMO

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease characterized by degeneration of both upper and lower motor neuron located in the spinal cord and brainstem. Diagnosis of ALS is predominantly clinical, nevertheless, electromyography and Magnetic Resonance Imaging (MRI) may provide support. Several advanced MRI techniques have been proven useful for ALS diagnosis and, indeed, the combination of different MRI techniques demonstrated an improvement in sensitivity and specificity as far as 90%. This review focus on the imaging techniques currently used in the diagnosis and management of ALS with brief considerations on future applications.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador/métodos , Neuroimagem/métodos , Tratos Piramidais/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/métodos
11.
J Headache Pain ; 17(1): 100, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27778244

RESUMO

BACKGROUND: Resting state magnetic resonance imaging allows studying functionally interconnected brain networks. Here we were aimed to verify functional connectivity between brain networks at rest and its relationship with thalamic microstructure in migraine without aura (MO) patients between attacks. METHODS: Eighteen patients with untreated MO underwent 3 T MRI scans and were compared to a group of 19 healthy volunteers (HV). We used MRI to collect resting state data among two selected resting state networks, identified using group independent component (IC) analysis. Fractional anisotropy (FA) and mean diffusivity (MD) values of bilateral thalami were retrieved from a previous diffusion tensor imaging study on the same subjects and correlated with resting state ICs Z-scores. RESULTS: In comparison to HV, in MO we found significant reduced functional connectivity between the default mode network and the visuo-spatial system. Both HV and migraine patients selected ICs Z-scores correlated negatively with FA values of the thalamus bilaterally. CONCLUSIONS: The present results are the first evidence supporting the hypothesis that an abnormal resting within networks connectivity associated with significant differences in baseline thalamic microstructure could contribute to interictal migraine pathophysiology.


Assuntos
Córtex Cerebral/fisiopatologia , Enxaqueca sem Aura/fisiopatologia , Tálamo/fisiopatologia , Adulto , Anisotropia , Estudos de Casos e Controles , Córtex Cerebral/diagnóstico por imagem , Imagem de Tensor de Difusão , Feminino , Neuroimagem Funcional , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Enxaqueca sem Aura/diagnóstico por imagem , Vias Neurais/diagnóstico por imagem , Vias Neurais/fisiopatologia , Tálamo/diagnóstico por imagem
12.
BMC Neurol ; 15: 102, 2015 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-26141065

RESUMO

BACKGROUND: The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF. The neuroradiological characteristics of this uncommon disease have not yet been outlined. CASE PRESENTATION: We hereby report the brain MRI features in two Caucasian women who carried homozygous mutations in CTSF, providing a short review of the neuroradiological findings of other common NCLs. Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline. CONCLUSION: White matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF.


Assuntos
Encéfalo/patologia , Transtornos Cognitivos/etiologia , Imageamento por Ressonância Magnética , Lipofuscinoses Ceroides Neuronais/fisiopatologia , Adulto , Corpo Caloso/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Mutação
13.
Eur Spine J ; 24(12): 2763-70, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25417070

RESUMO

PURPOSE: This article aims at presenting a scale that, through the analysis of MRI images, clearly charts the various degenerative stages of the cervical spine and establishes its biological age. We have created this scale by summing together various scores linked to a selection of parameters according to which MRI images are analyzed. METHOD: We examined 423 cervical spine MRI scans, belonging to patients who had been admitted to the Medical Imaging Service of the Military Hospital of Rome between January 2010 and July 2011. We selected 6 parameters for the analysis of the MRI scans of the cervical spine: (1) the degeneration of the intervertebral discs, (2) the degeneration of the yellow ligaments, (3) the degeneration of the vertebral bodies, (4) the possible presence of spondylolistheses, (5) the presence or absence of foraminal stenosis, and (6) the diameter of the spinal canal. We assigned to each parameter a score system based on a graduated scale. The cervical spine physiological age can be determined by summing up the scores obtained for each parameter. RESULTS: We submitted the data obtained from the study to a statistical enquiry. The results of the enquiry confirmed the suitability of the parameters selected for the evaluation of the aging process of the cervical spine. CONCLUSIONS: The effectiveness of the various treatments for cervical spine degenerative disorders is influenced by the overall anatomical conditions of the cervical spine. Up until now there has been no objective criterion for the evaluation of these anatomical conditions. We believe that this scale will be a useful tool to homogenize retrospective studies and to correctly set up prospective studies on the degenerative conditions of the cervical spine and relative treatments.


Assuntos
Envelhecimento/patologia , Vértebras Cervicais/patologia , Doenças da Coluna Vertebral/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Disco Intervertebral , Degeneração do Disco Intervertebral/patologia , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos , Canal Medular/patologia , Espondilolistese/patologia , Adulto Jovem
14.
Int J Neurosci ; 125(12): 913-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25387071

RESUMO

PURPOSE: Celiac disease (CD) is an immuno-mediated small bowel disease characterized by chronic inflammation due to a permanent intolerance to gliadin. Several neurological complications have been described, including epilepsy, whose evolution might often improve by adopting gluten-free diet (GFD). We studied a population of adult patients affected by posterior drug-resistant epilepsy of unknown cause by performing an accurate screening for CD. In the selected patients presenting the association of epilepsy and CD, we characterized the related electro-clinical features. MATERIALS AND METHODS: We consecutively identified 211 adult subjects affected by drug-resistant cryptogenic focal epilepsy with posterior seizures. All these patients underwent serological screening for CD. In 10 subjects positive serological tests allowed to perform a CD diagnosis (confirmed by duodenal biopsy). For each patient clinical and EEG data, neuroimaging studies, serological and histological findings were revised, as well as response to GFD, defined as an improvement in seizure outcome. RESULTS: A significant delay between diagnosis of epilepsy and CD was documented. Visual ictal manifestations were reported in half of subjects. In all cases, interictal EEG showed slow and epileptiform abnormalities over parietal-occipital and temporal regions; in three cases, FOS phenomenon was observed. Four patients had familiar history of CD and six cases showed clinical signs/symptoms of malabsorption. GFD led to a reduction of seizure frequency in half of patients. CONCLUSIONS: "Posterior" ictal semiology, peculiar EEG patterns and drug-resistance emerge as the most interesting characteristics. CD screening should be performed in epilepsy patients presenting such features.


Assuntos
Doença Celíaca/complicações , Epilepsias Parciais/etiologia , Adolescente , Adulto , Eletroencefalografia , Ensaio de Imunoadsorção Enzimática , Epilepsias Parciais/diagnóstico , Feminino , Proteínas de Ligação ao GTP/metabolismo , Gliadina/metabolismo , Humanos , Masculino , Neuroimagem , Proteína 2 Glutamina gama-Glutamiltransferase , Transglutaminases/metabolismo , Adulto Jovem
15.
ScientificWorldJournal ; 2014: 834931, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25401156

RESUMO

Brain arteriovenous malformations (bAVMs) are complex vascular lesions. Despite multiple studies, several classifications, and a great interest of the scientific community, case selection in AVM patients remains challenging. During the last few years, tremendous advancements widened therapeutic options and improved outcomes spreading indications for patients harboring lesions deemed inoperable in the past. Anatomical and biological case specific features, and natural history with a focus on presenting symptoms should be evaluated case by case and always kept in mind while planning a therapeutic management for a bAVMs. A multidisciplinary approach is strongly recommended when dealing with bAVMs and should involve physicians expertise in this kind of challenging lesions. The goal of this paper is to provide a focused review of the most recent acquisitions and therapeutic strategies regarding surgical, endovascular, and radiosurgical treatment.


Assuntos
Procedimentos Endovasculares/métodos , Malformações Arteriovenosas Intracranianas/diagnóstico , Malformações Arteriovenosas Intracranianas/cirurgia , Radiocirurgia/métodos , Encéfalo/anormalidades , Encéfalo/irrigação sanguínea , Encéfalo/cirurgia , Humanos
16.
Radiol Med ; 119(8): 616-24, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24408041

RESUMO

OBJECTIVE: The discrimination between recurrent glioma and radiation injury is often a challenge on conventional magnetic resonance imaging (MRI). We verified whether adding and combining proton MR spectroscopic imaging ((1)H-MRSI), diffusion-weighted imaging (DWI) and perfusion-weighted imaging (PWI) information at 3 Tesla facilitate such discrimination. MATERIALS AND METHODS: Twenty-nine patients with histologically verified high-grade gliomas, who had undergone surgical resection and radiotherapy, and had developed new contrast-enhancing lesions close to the treated tumour, underwent MRI, (1)H-MRSI, DWI and PWI at regular time intervals. The metabolite ratios choline (Cho)/normal( n )Cho n , N-acetylaspartate (NAA)/NAA n , creatine (Cr)/Cr n , lactate/lipids (LL)/LL n , Cho/Cr n , NAA/Cr n , Cho/NAA, NAA/Cr and Cho/Cr were derived from (1)H-MRSI; the apparent diffusion coefficient (ADC) from DWI; and the relative cerebral blood volume (rCBV) from PWI. RESULTS: In serial MRI, recurrent gliomas showed a progressive enlargement, and radiation injuries showed regression or no modification. Discriminant analysis showed that discrimination accuracy was 79.3 % when considering only the metabolite ratios (predictor, Cho/Cr n ), 86.2 % when considering ratios and ADC (predictors, Cho/Cr n and ADC), 89.7 % when considering ratios and rCBV (predictors, Cho/Cr n , Cho/Cr and rCBV), and 96.6 % when considering ratios, ADC and rCBV (predictors, Cho/Cho n , ADC and rCBV). CONCLUSIONS: The multiparametric 3-T MR assessment based on (1)H-MRSI, DWI and PWI in addition to MRI is a useful tool to discriminate tumour recurrence/progression from radiation effects.


Assuntos
Lesões Encefálicas/diagnóstico , Neoplasias Encefálicas/diagnóstico , Glioblastoma/diagnóstico , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia/diagnóstico , Lesões por Radiação/diagnóstico , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade
17.
Riv Psichiatr ; 58(1): 10-20, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36715578

RESUMO

BACKGROUND: The 22q11.2 Deletion Syndrome (22q11.2DS) is considered the most reliable biological model to study genetic vulnerability to schizophrenia. It appears useful to investigate neuroanatomical characteristics of people with 22q11.2DS compared to chronic schizophrenia and healthy controls. METHODS: The sample consisted of 16 individuals with a diagnosis of schizophrenia for over 10 years (SCZ>10), 14 with a diagnosis for less than 10 years (SCZ≤10), 11 patients with 22q11.2DS with no diagnosis of psychotic disorder (DEL, n=11) and 19 healthy controls (HCs, n=19). Global intelligence (IQ) was evaluated for all subjects. Voxel-Based Morphometry (VBM) was employed to investigate potential differences between groups in grey matter volumes. RESULTS: VBM located the most significant difference between SCZ and HCs in the left medial frontal gyrus, where SCZ>10 group showed a significant reduction of grey matter volume; the same cluster resulted significantly decreased in DEL group compared to HCs as well. Despite the extensive grey matter abnormalities observed in 22q11.2DS, the DEL group showed the only significant differences compared to the SCZ>10 group in the right lingual gyrus volumes. CONCLUSIONS: Despite the small sample, our study identified a common area of grey matter loss both in idiopathic schizophrenia and 22q11.2DS.


Assuntos
Síndrome de DiGeorge , Transtornos Psicóticos , Esquizofrenia , Humanos , Esquizofrenia/diagnóstico por imagem , Síndrome de DiGeorge/diagnóstico por imagem , Síndrome de DiGeorge/genética , Substância Cinzenta/diagnóstico por imagem , Córtex Cerebral
18.
Epileptic Disord ; 2023 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-37430419

RESUMO

Musicogenic epilepsy (ME), a peculiar form of reflex epilepsy, represents a neurological rarity and yet another demonstration of the extraordinary power of music on the human brain. Despite the heterogeneity of the reported musical triggers, the patients' emotional response to music is thought to play a crucial role in provoking seizures. Accordingly, the mesial temporal structures (especially of the non-dominant hemisphere) appear most involved in seizure generation, although a more complex fronto-temporal epileptogenic network was documented in some cases. Autoimmune encephalitis has been recently included among the many possible etiologies of ME thanks to few reports of music-induced seizures in patients with anti-glutamic acid decarboxylase 65 antibodies. Here we describe the case of a 25-year-old man, with long-term music education, who suffered from drug-resistant temporal lobe epilepsy following seronegative limbic encephalitis related to non-Hodgkin lymphoma. Along with spontaneous events, the patient also developed musicogenic seizures later in the disease course. After detecting five music-induced episodes via 24-h ambulatory EEG, we performed a prolonged video-EEG monitoring during which the patient presented a right temporal seizure (characterized by déjà-vu, piloerection and gustatory hallucinations) while listening to a hard-rock song (never heard before) through headphones. This observation allowed us to confirm the provoking effect of music on our patient's seizures, despite the lack of any emotional drive, which suggests that a "cognitive" trigger was more likely in this case. Our report further highlights that autoimmune encephalitis should be investigated as a novel potential cause of musicogenic epilepsy, regardless of autoantibody status.

19.
Eur Radiol ; 22(5): 990-7, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22160194

RESUMO

OBJECTIVES: This study evaluated patients with multiple sclerosis using diffusion tensor imaging (DTI) to obtain fractional anisotropy (FA) and mean diffusivity (MD) values. METHODS: We investigated the possible statistically significant variation of MD and FA in different MS patients, compared simultaneously, putting in comparison their normal appearing white matter (NAWM) and white matter affected by disease (plaques), both during activity and in remission, with normal white matter (NWM) of control subjects. RESULTS: Statistical analysis using Levene's test for comparison of variances revealed significant (P < 0.05) differences between FA values of the NWM of the controls and those of NAWM and active or inactive lesions, of the patients in the study. However, the differences between MD values of the NWM of the controls and those of NAWM and active or inactive lesions of the patients in the study were judged not significant (P > 0.05). CONCLUSION: Imaging of MS using MRI techniques is constantly searching for reproducible quantitative parameter. This study shows how these parameters can be identified in the MD and FA values, and thus suggests the implementation of MRI routine protocols for diagnosing MS with the DTI analysis, since it can provide valuable information otherwise unobtainable. KEY POINTS: Magnetic resonance imaging is widely performed in multiple sclerosis (MS) patients Diffusion tensor imaging (DTI) can be implemented using a 3T magnet DTI provides quantitative parameters as mean diffusivity (MD) and fractional anisotropy (FA) MD and, especially, FA can help evaluate the lesion load in MS patients and also assess variation in normal appearing white matter (NAWM) in MS.


Assuntos
Encéfalo/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Interpretação de Imagem Assistida por Computador/métodos , Esclerose Múltipla/patologia , Adulto , Feminino , Humanos , Aumento da Imagem/métodos , Masculino , Projetos Piloto , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
20.
Immun Ageing ; 9(1): 22, 2012 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-23110752

RESUMO

BACKGROUND: Thrombolytic therapy (TT) for acute ischemic stroke (AIS) can provoke bleeding's complication depending on the ischemic lesion (IL) dimension. Inflammation involved in the setting of acute ischaemic stroke, is associated with infarct size. We aimed to study the independent correlation and association between clinical panel of routinely identified biomarkers, including inflammatory parameters, and cerebral IL dimension and site. RESULTS: We evaluated eleven biomarkers in 105 unrelated patients during their hospitalization after acute stroke event. Our data indicate a significant association of: a) confluent IL size with 4th quartile of Erythrocyte Sedimentation Rate (ESR) (OR = 5.250; 95% CI, 1.002 to 27.514) and an independent correlation with sex; b) confluent IL size with 3rd quartile of fibrinogen (OR = 5.5; 95% CI, 1.027 to 29.451); c) confluent IL size with 3rd quartile of platelets (OR= 0.059; 95% CI, 0.003 to 1.175) and independent correlation with sex; d) smaller IL size (OR = 5.25; 95% CI, 1.351 to 20.396) with 3rd quartile of albumin levels and nodular and parenchimal IL size with 2nd (OR = 0.227; 95% CI, 0.053 to 0.981), 3rd (OR = 0.164; 95% CI, 0.038 to 0.711) and 4th (OR = 0.205; 95% CI, 0.048 to 0.870) quartiles albumin levels; e) smaller IL size with 3rd quartile triglycerides (TG) levels (OR = 9; 95% CI, 2.487 to 32.567) and an independent correlation with anterior location. Smaller IL size, anterior AIS turned out to be independently correlated with high serum albumin levels. Finally, high INR and PTT values were associated with worse NIHSS clinical outcomes in contrast to that observed with higher albumin level. CONCLUSIONS: We provide evidence of routine biomarkers levels correlation with acute IL size, independently of age and sex. In addition, we highlight the importance of differentiation of biomarkers normal interval levels for further improvement not only of the clinical decision making but also in post-acute clinical outcome management.

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