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Multiple mitochondrial enzymes employ lipoic acid as a coenzyme. Pathogenic variants in LIAS, encoding lipoic acid synthase (LIAS), are associated with autosomal recessive LIAS-related disorder (OMIM# 614462). This disorder is characterized by infantile-onset hypotonia, profound psychomotor delay, epileptic encephalopathy, nonketotic hyperglycinemia, and lactic acidosis. We present the case of a 20-year-old female who experienced developmental deficits at the age of 6 months and began to have seizures at 3 years of age. Exome sequencing revealed compound heterozygous novel variants in LIAS, designated c.277delC (p.Leu93Ter) and c.542A > T (p.Asp181Val). The p.Leu93Ter variant is predicted to cause loss of function due to the severe truncation of the encoded protein. To examine the p.Asp181Val variant, functional analysis was performed using Baker's yeast (Saccharomyces cerevisiae) lacking LIP5, the homologue of human LIAS. Wild-type LIAS promoted oxidative growth of the lip5∆ yeast strain. In contrast, lip5∆ yeast expressing p.Asp181Val exhibited poor growth, similar to known pathogenic variants, p.Asp215Glu and p.Met310Thr. Our work has expanded the phenotypic and genotypic spectrum of LIAS-related disorder and established the use of the yeast model as a system for functional study of novel missense variants in LIAS.
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Deficiências do Desenvolvimento , Epilepsia , Sulfurtransferases , Adulto , Criança , Feminino , Humanos , Lactente , Adulto Jovem , Deficiências do Desenvolvimento/genética , Epilepsia/genética , Hipotonia Muscular , Saccharomyces cerevisiae , Sulfurtransferases/genéticaRESUMO
Obesity, depression and Alzheimer's disease (AD) are three major interrelated modern health conditions with complex relationships. Early-life depression may serve as a risk factor for AD, while late-life depression may be a prodrome of AD. Depression affects approximately 23% of obese individuals, and depression itself raises the risk of obesity by 37%. Mid-life obesity independently increases AD risk, while late-life obesity, particularly metabolically healthy obesity, may offer protection against AD pathology. Chronic inflammation serves as a key mechanism linking obesity, AD, and depression, encompassing systemic inflammation from metabolic disturbances, immune dysregulation through the gut microbiome, and direct interactions with amyloid pathology and neuroinflammation. In this review, we explore the biological mechanisms of neuroinflammation in relation to obesity, AD, and depression. We assess the efficacy of therapeutic interventions targeting neuroinflammation and discuss current and future radiological imaging initiatives for studying neuroinflammation. By comprehending the intricate interplay among depression, obesity, and AD, especially the role of neuroinflammation, we can advance our understanding and develop innovative strategies for prevention and treatment.
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Doença de Alzheimer , Humanos , Doença de Alzheimer/etiologia , Doença de Alzheimer/metabolismo , Doenças Neuroinflamatórias , Depressão/complicações , Inflamação/complicações , Inflamação/patologia , Obesidade/complicaçõesRESUMO
OBJECTIVE: Temporal lobe epilepsy (TLE) and depression are common comorbid disorders whose underlying shared neural network has yet to be determined. Although animal studies demonstrate a role for the dorsal bed nucleus of the stria terminalis (dBNST) in both seizures and depression, and human clinical studies demonstrate a therapeutic effect of stimulating this region on treatment-resistant depression, the role of the dBNST in depressed and nondepressed TLE patients is still unclear. Here, we tested the hypothesis that this structure is morphologically abnormal in these epilepsy patients, with an increased abnormality in TLE patients with comorbid depression. METHODS: In this case-controlled study, 3-T structural magnetic resonance imaging scans were obtained from TLE patients with no depression (TLEonly), TLE patients with depression (TLEdep), and healthy control (HC) subjects. TLE subjects were recruited from the Yale University Comprehensive Epilepsy Center, diagnosed with the International League Against Epilepsy 2014 Diagnostic Guidelines, and confirmed by video-electroencephalography. Diagnosis of major depressive disorder was confirmed by a trained neuropsychologist through a Mini International Neuropsychiatric Interview based on the Diagnostic and Statistical Manual of Mental Disorders, 4th edition. The dBNST was delineated manually by reliable raters using Bioimage Suite software. RESULTS: The number of patients and subjects included 35 TLEonly patients, 20 TLEdep patients, and 102 HC subjects. Both TLEonly and TLEdep patients had higher dBNST volumes compared to HC subjects, unilaterally in the left hemisphere in the TLEonly patients (p = .003) and bilaterally in the TLEdep patients (p < .0001). Furthermore, the TLEdep patients had a higher dBNST volume than the TLEonly patients in the right hemisphere (p = .02). SIGNIFICANCE: Here, we demonstrate an abnormality of the dBNST in TLE patients, both without depression (left enlargement) and with depression (bilateral enlargement). Our results demonstrate this region to underlie TLE both with and without depression, implicating it as a target in treating the comorbidity between these two disorders.
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Transtorno Depressivo Maior , Epilepsia do Lobo Temporal , Epilepsia , Núcleos Septais , Transtorno Depressivo Maior/complicações , Transtorno Depressivo Maior/diagnóstico por imagem , Eletroencefalografia , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/métodosRESUMO
OBJECTIVE. The purpose of this study is to determine the effect of different reader and patient parameters on the degree of agreement and the rate of misclassification of vesicoureteric reflux grading on last-image-hold frames in relation to spot-exposed frames from voiding cystourethrography (VCUG) as well as to determine the nature of reflux misclassification on last-image-hold frames. MATERIALS AND METHODS. Blinded readers conducted a retrospective evaluation of last-image-hold and spot-exposed frames of the renal fossae from 191 sequential VCUG examinations performed during a five-year period. Kappa tests were used to determine the agreement between reflux gradings and to assess the impact of reader and patient parameters. Pearson product-moment correlations were used to evaluate the effect of patient parameters on reader level of certainty regarding reflux grading. RESULTS. We measured almost perfect overall agreement for more experienced readers and substantial overall agreement for less experienced readers. Point estimates of overall misclassification were less than 2% for more experienced readers and less than 4% for less experienced readers. The readers' level of certainty about reflux grading had a positive impact on agreement values and misclassification rates. Experienced readers' most common misclassification was assigning reflux a grade of 3 on a spot-exposed frame and a grade of 2 on an equivalent last-image-hold frame. Inexperienced readers' most common misclassification involved missing reflux altogether. CONCLUSION. Instances of grade 2 reflux on last-image-hold frames may warrant supplemental evaluation with spot-exposed frames. Otherwise, a reader's level of certainty regarding reflux grading on a last-image-hold frame may help determine whether a supplemental spot-exposed frame would be beneficial.
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Pulmonary opacities/nodules are common findings on computed tomography examinations, which may represent an underlying infections or malignancy. However, not every pulmonary nodule or opacity represents malignancy or infection. We present a pictorial essay illustrating common as well as obscure noninfectious, nonmalignant pulmonary lesions. Lesions discussed include organizing pneumonia, Langerhans cell histiocytosis, pulmonary amyloidosis, hyalinizing granuloma, tumourlet (benign localized neuroendocrine cell proliferations), atypical alveolar hyperplasia, inflammatory myofibroblastic tumour, papillary alveolar adenoma, plasma cell granuloma, juvenile xanthogranuloma, and sclerosing hemangiomas. We discuss the clinical presentation, prevalence, radiographic clues, pathology, and diagnostic pitfalls of these rare lesions.
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Pneumopatias/diagnóstico por imagem , Pneumopatias/patologia , Tomografia Computadorizada por Raios X , Humanos , Pulmão/diagnóstico por imagemRESUMO
OBJECTIVE: Although hydrocephalus rates have decreased with intrauterine surgery for myelomeningocele (MMC), 40%-85% of children with MMC still go on to develop hydrocephalus. Prenatal ventricle size is known to be associated with later development of hydrocephalus; however, it is not known how prediction measures or timing of hydrocephalus treatment differ between pre- and postnatal surgery for MMC. The goal of this study was to determine anatomical, clinical, and radiological characteristics that are associated with the need for and timing of hydrocephalus treatment in patients with MMC. METHODS: The authors retrospectively identified patients from Barnes Jewish Hospital or St. Louis Children's Hospital between 2016 and 2021 who were diagnosed with MMC prenatally and underwent either pre- or postnatal repair. Imaging, clinical, and demographic data were examined longitudinally between treatment groups and hydrocephalus outcomes. RESULTS: Fifty-eight patients were included (27 females, 46.6%), with a mean gestational age at birth of 36.8 weeks. Twenty-three patients (39.7%) underwent prenatal surgery. For the overall cohort, the ventricle size at prenatal ultrasound (HR 1.175, 95% CI 1.071-1.290), frontal-occipital horn ratio (FOHR) at birth > 0.50 (HR 3.603, 95% CI 1.488-8.720), and mean rate of change in head circumference (HC) in the first 90 days after birth (> 0.10 cm/day: HR 12.973, 95% CI 4.262-39.486) were identified as predictors of hydrocephalus treatment. The factors associated with hydrocephalus in the prenatal cohort were FOHR at birth > 0.50 (HR 27.828, 95% CI 2.980-259.846) and the rate of change in HC (> 0.10 cm/day: HR 39.414, 95% CI 2.035-763.262). The factors associated with hydrocephalus in the postnatal cohort were prenatal ventricle size (HR 1.126, 95% CI 1.017-1.246) and the mean rate of change in HC (> 0.10 cm/day: HR 24.202, 95% CI 5.119-114.431). FOHR (r = -0.499, p = 0.008) and birth HC (-0.409, p = 0.028) were correlated with time to hydrocephalus across both cohorts. For patients who underwent treatment for hydrocephalus, those in the prenatal surgery group were significantly more likely to develop hydrocephalus after 3 months than those treated with postnatal surgery, although the overall rate of hydrocephalus was significantly higher in the postnatal surgery group (p = 0.018). CONCLUSIONS: Clinical and imaging factors associated with hydrocephalus treatment differ between those receiving pre- versus postnatal MMC repair, and while the overall rate of hydrocephalus is lower, those undergoing prenatal repair are more likely to develop hydrocephalus after 3 months of age. This has implications for clinical follow-up timing for patients treated prenatally, who may live at a distance from the treatment site.
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Hidrocefalia , Meningomielocele , Humanos , Hidrocefalia/cirurgia , Hidrocefalia/etiologia , Hidrocefalia/diagnóstico por imagem , Meningomielocele/cirurgia , Meningomielocele/complicações , Meningomielocele/diagnóstico por imagem , Feminino , Masculino , Estudos Retrospectivos , Recém-Nascido , Gravidez , Ultrassonografia Pré-Natal , Idade Gestacional , Resultado do Tratamento , LactenteRESUMO
BACKGROUND: Myxopapillary ependymoma (MPE) is typically benign and found in the conus medullaris and/or filum terminale, although rare cases of subcutaneous and extra-axial MPE have been reported. The co-occurrence of MPE, tethered cord syndrome (TCS) with lipoma of the filum terminale, and a dermal sinus tract is extremely rare, with only 6 reported cases in the literature. Here, the authors present the first case, to their knowledge, of an extra-axial, subcutaneous MPE co-presenting with TCS, lipoma of the filum terminale, and a dermal sinus tract and discuss the underlying pathobiology. OBSERVATIONS: A 14-month-old male who presented for evaluation of a dermal sinus tract underwent magnetic resonance imaging, which revealed a tethered cord with associated lipoma. At 14 months, the patient underwent spinal cord detethering with resection of his sacral dimple and sinus tract. Histopathological evaluation revealed an incidentally found MPE within the dermal sinus tract. LESSONS: The authors review the underlying biology of MPEs, tethered cord syndrome, and dermal sinus tracts, and explore possible points of convergence within the developmental pathways that may result in this unique concomitant presentation. Additionally, they suggest that extra-axial MPE may be underappreciated and underdiagnosed; this case suggests that extra-axial MPE may be only effectively diagnosed with histological studies.
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Imaging plays a central role in neuro-oncology including primary diagnosis, treatment planning, and surveillance of tumors. The emergence of quantitative imaging and radiomics provided an uprecedented opportunity to compile mineable databases that can be utilized in a variety of applications. In this review, we aim to summarize the current state of conventional and advanced imaging techniques, standardization efforts, fast protocols, contrast and sedation in pediatric neuro-oncologic imaging, radiomics-radiogenomics, multi-omics and molecular imaging approaches. We will also address the existing challenges and discuss future directions.
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Diagnóstico por Imagem , Neoplasias , Criança , HumanosRESUMO
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) has been implicated in a wide range of CNS encephalitis and myelitis presentations. We present a previously healthy 16-year-old girl who presented with acute onset headaches that rapidly progressed to encephalopathy, flaccid paraparesis, lower extremity hyperreflexia, and urinary retention. Serial MRI brain and total spine imaging demonstrated evolving diffuse supratentorial leptomeningeal enhancement and holocord gray matter restricted T2 bright lesion without enhancement. CSF was markedly inflammatory with MOG antibody positive >1:10,000. The patient improved after empiric steroids, plasma exchange, and IVIG.
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Encefalite , Meningoencefalite , Mielite , Feminino , Humanos , Adolescente , Substância Cinzenta/diagnóstico por imagem , Glicoproteína Mielina-Oligodendrócito , Meningoencefalite/complicações , Meningoencefalite/diagnóstico por imagem , AutoanticorposRESUMO
BACKGROUND: In 2020, a new disease was reported by Polovitskaya et al., caused by a monoallelic, gain-of-function mutation in CLCN6, encoding the ClC-6 Cl-/H±exchanger. METHODS: Here, we report the ophthalmic findings of one of the first three patients with this disease (the proband) and review the findings in the other two patients in the literature. RESULTS: The CLCN6 gene is part of the voltage-dependent chloride channel protein family. It functions as either a chloride channel aiding in cell-volume regulation and acidification of intracellular organelles or as an antiporter, which are membrane proteins involved in the transport of molecules across a phospholipid membrane. This particular gene is found in late endosomes. Ion transport across endosome membranes is essential for endosomal function. The proband carried a de novo c.1658A>G (p.Tyr553Cys) mutation in CLCN6. The patient reported herein has a notable optic nerve appearance. The nerve initially appeared elevated. Over time, the optic nerve elevation appearance decreased, associated with progressive vision loss with a visual acuity of 20/470 at last follow-up. CONCLUSION: While Clcn6-/- mice have been found to have a mild neuronal lysosomal storage phenotype, the three reported children with a de novo c.1658A>G (p.Tyr553Cys) variant displayed significant developmental delay and neurodegeneration.
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Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, tooth enamel, and central nervous system. Other organs are also involved in some syndromes, mainly cardiovascular, pulmonary, renal, and musculoskeletal systems. Currently, more than sixty distinct entities belonging to this category have been described in the literature. Common phakomatoses include conditions like Neurofibromatosis and Tuberous sclerosis. Several review papers have focused on various aspects of these common conditions, including clinical presentation, genetic and molecular basis, and neuroimaging features. In this review, we focus on rare neurocutaneous syndromes: Melanophakomatoses (Ie, Neurocutaneous Melanosis, and Incontinentia Pigmenti), Vascular Phakomatoses (Ie, Ataxia Telangiectasia and PHACE Syndrome), and other conditions such as Cowden Syndrome, Basal Nevus Syndrome, Schwannomatosis, Progressive Facial Hemiatrophy, Gomez-Lopez-Hernandez Syndrome, Wyburn-Mason Syndrome, CHILD Syndrome, and Proteus Syndrome. We also review the neuroradiologic manifestations of these conditions as a guide for neurologists and neuroradiologists in their daily practice.
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Síndromes Neurocutâneas , Neurofibromatose 1 , Esclerose Tuberosa , Humanos , Síndromes Neurocutâneas/diagnóstico por imagem , Neurofibromatose 1/genética , Neuroimagem , Pele , Síndrome , Esclerose Tuberosa/diagnóstico por imagem , Esclerose Tuberosa/genéticaRESUMO
BACKGROUND: Choroid plexus papillomas are benign tumors of the choroid plexus. Although typically focal, they can metastasize. Rarely, patients may present with numerous cystic lesions throughout the craniospinal axis. OBSERVATIONS: The authors present three cases of pathologically confirmed fourth ventricular World Health Organization (WHO) grade 1 choroid plexus papillomas presenting with numerous cystic lesions throughout the craniospinal axis. Two cases were treated with only resection of the fourth ventricular mass; one was treated with a partial cyst fenestration. During follow-up, there was only mild interval growth of the cystic lesions over time, and all patients remained asymptomatic from their cystic lesions. The authors summarize five additional cases of cystic dissemination in the published literature and discuss hypotheses for the pathophysiology of this rare presentation. LESSONS: Choroid plexus papillomas may present with numerous, widely disseminated cystic lesions within the craniospinal axis. Thus, the authors recommend preoperative and routine imaging of the entire neuroaxis in patients with choroid plexus tumors, regardless of WHO grade. Although the role of adjuvant therapy and cyst fenestration in the treatment of these lesions remains unclear, watchful waiting may be indicated, especially in asymptomatic patients, because the lesions often demonstrate slow, if any, growth over time.
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AIM: To investigate how combined electrographic and radiologic data inform outcomes in children after cardiac arrest. METHODS: Retrospective observational study of children admitted to the pediatric intensive care unit (PICU) of a tertiary children's hospital with diagnosis of cardiac arrest from 2009 to 2016. The first 20 min of electroencephalogram (EEG) background was blindly scored. Presence and location of magnetic resonance imaging (MRI) diffusion-weighted image (DWI) abnormalities were correlated with T2-weighted signal. Outcomes were categorized using Pediatric Cerebral Performance Category (PCPC) scores at hospital discharge, with "poor outcome" reflecting a PCPC score of 4-6. Logistic regression models examined the association of EEG and MRI variables with outcome. RESULTS: 41 children met inclusion criteria and had both post-arrest EEG monitoring within 72 hours after ROSC and brain MRI performed within 8 days. Among the 19 children with poor outcome, 10 children did not survive to discharge. Severely abnormal EEG background (p < 0.0001) and any diffusion restriction (p < 0.0001) were associated with poor outcome. The area under the ROC curve (AUC) for identifying outcome based on EEG background alone was 0.86, which improved to 0.94 with combined EEG and MRI data (p = 0.02). CONCLUSION: Diffusion abnormalities on MRI within 8 days after ROSC add to the prognostic value of EEG background in children surviving cardiac arrest.
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Parada Cardíaca , Encéfalo/diagnóstico por imagem , Criança , Imagem de Difusão por Ressonância Magnética/métodos , Eletroencefalografia , Parada Cardíaca/complicações , Parada Cardíaca/terapia , Humanos , Imageamento por Ressonância Magnética , Prognóstico , Estudos RetrospectivosRESUMO
Infantile Krabbe disease (IKD) can be treated with hematopoietic cell transplantation (HCT) if done during the first weeks of life before symptoms develop. To facilitate this, newborn screening (NBS) has been instituted in 8 US states. An application to add IKD to the recommended NBS panel is currently under review. In this report, the outcomes of newborns with IKD diagnosed through NBS and treated with HCT are presented. The unique challenges associated with NBS for this disease are discussed, including opportunities for earlier diagnosis and streamlining treatment referrals. This is a retrospective review of six infants with IKD detected by NBS who were referred for HCT. The timing from diagnosis to HCT was examined, and both HCT and neurodevelopmental outcomes are described. Neurologic testing before HCT revealed evidence of active IKD in all infants. All underwent HCT between 24 and 40 days of age, were successfully engrafted, and are alive 30 to 58 months later (median, 47.5 months). All are gaining developmental milestones albeit at a slower pace than unaffected age-matched peers. Gross motor function is most notably affected. NBS for these patients enabled early access to HCT, the only currently available treatment of infants with IKD. All children are alive and have derived developmental and neurologic benefits from timely HCT. Long-term follow up is ongoing. Optimization of HCT and further development of emerging therapies, all of which must be delivered early in life, are expected to further improve outcomes of infants with IKD.
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Transplante de Células-Tronco Hematopoéticas , Leucodistrofia de Células Globoides , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Leucodistrofia de Células Globoides/diagnóstico , Leucodistrofia de Células Globoides/terapia , Estudos Longitudinais , Triagem NeonatalRESUMO
OBJECTIVE: Pilocytic astrocytomas (PAs) have a generally favorable prognosis; however, progression or recurrence after resection is possible. The prognostic value of histopathological qualifiers (defined below) or BRAF alterations is not well understood. The aim of this study was to identify the prognostic value of genetic and histopathological features of pediatric PAs. METHODS: Patients treated for a WHO grade I PA at a single institution were analyzed for histopathological and genetic features and outcomes. "Histopathological qualifier" refers to designations such as "WHO grade I PA with increased proliferative index." BRAF alterations include gene fusions and point mutations. Patients with neurofibromatosis type 1 were excluded. RESULTS: A total of 222 patients were analyzed (51% female, mean age 9.6 years). Tumors were located in the cerebellum/fourth ventricle (51%), optic pathway/hypothalamus (15%), brainstem (12%), and cerebral cortex (11%). BRAF alterations were screened for in 77 patients and identified in 56 (73%). Histopathological qualifiers were present in 27 patients (14%). Resection was performed in 197 patients (89%), 41 (21%) of whom displayed tumor progression or recurrence after resection. Tumor progression or recurrence was not associated with histopathologic qualifiers (p = 0.36) or BRAF alterations (p = 0.77). Ki-67 proliferative indices were not predictive of progression or recurrence (p = 0.94). BRAF alterations, specifically KIAA1549 fusions, were associated with cerebellar/fourth ventricular tumor location (p < 0.0001) and younger patient age (p = 0.03). Patients in whom gross-total resection was achieved had lower rates of progression and recurrence (p < 0.0001). CONCLUSIONS: Histopathological features/qualifiers and BRAF alterations were not associated with tumor recurrence/progression in pediatric PAs. The extent of resection was the only factor analyzed that predicted outcome.
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Astrocitoma , Neoplasias Encefálicas , Neoplasias Cerebelares , Criança , Humanos , Feminino , Masculino , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/patologia , Proteínas Proto-Oncogênicas B-raf/genética , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/cirurgia , Astrocitoma/genética , Astrocitoma/cirurgia , Astrocitoma/patologiaRESUMO
Anosmia, stroke, paralysis, cranial nerve deficits, encephalopathy, delirium, meningitis, and seizures are some of the neurological complications in patients with coronavirus disease-19 (COVID-19) which is caused by acute respiratory syndrome coronavirus 2 (SARS-Cov2). There remains a challenge to determine the extent to which neurological abnormalities in COVID-19 are caused by SARS-Cov2 itself, the exaggerated cytokine response it triggers, and/or the resulting hypercoagulapathy and formation of blood clots in blood vessels throughout the body and the brain. In this article, we review the reports that address neurological manifestations in patients with COVID-19 who may present with acute neurological symptoms (e.g., stroke), even without typical respiratory symptoms such as fever, cough, or shortness of breath. Next, we discuss the different neurobiological processes and mechanisms that may underlie the link between SARS-Cov2 and COVID-19 in the brain, cranial nerves, peripheral nerves, and muscles. Finally, we propose a basic "NeuroCovid" classification scheme that integrates these concepts and highlights some of the short-term challenges for the practice of neurology today and the long-term sequalae of COVID-19 such as depression, OCD, insomnia, cognitive decline, accelerated aging, Parkinson's disease, or Alzheimer's disease in the future. In doing so, we intend to provide a basis from which to build on future hypotheses and investigations regarding SARS-Cov2 and the nervous system.
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Betacoronavirus , Infecções por Coronavirus/metabolismo , Infecções por Coronavirus/patologia , Doenças do Sistema Nervoso/metabolismo , Doenças do Sistema Nervoso/patologia , Pneumonia Viral/metabolismo , Pneumonia Viral/patologia , Encéfalo/metabolismo , Encéfalo/patologia , COVID-19 , Infecções por Coronavirus/epidemiologia , Humanos , Mediadores da Inflamação/metabolismo , Doenças do Sistema Nervoso/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , SARS-CoV-2RESUMO
The inter-arterial watershed zone in neonates is a geographic area without discernible anatomic boundaries and difficult to demarcate and usually not featured in atlases. Schematics currently used to depict the areas are not based on any prior anatomic mapping, compared to adults.Magnetic resonance imaging (MRI) of neonates in the acute to subacute phase with suspected hypoxic-ischaemic injury (HII) can demonstrate signal abnormality and restricted diffusion in the cortical and subcortical parenchyma of the watershed regions.In the chronic stage of partial-prolonged hypoxic-ischaemic injury, atrophy and ulegyria can make the watershed zone more conspicuous as a region. Our aim is to use images extracted from a sizable medicolegal database (approximately 2000 cases), of delayed MRI scans in children with cerebral palsy, to demonstrate the watershed region.To achieve this, we have selected cases diagnosed on imaging as having sustained a term pattern of partial-prolonged HII affecting the hemispheric cortex, based on the presence of bilateral, symmetric atrophy with ulegyria. From these, we have identified those patients demonstrating injury along the whole watershed continuum as well as those demonstrating selective anterior or posterior watershed predominant injury for demonstration.Recognition of this zone is essential for diagnosing partial-prolonged hypoxic-ischaemic injury sustained in term neonates. The images presented in this pictorial review provide a template for identifying the cortical watershed distribution when there is milder regional (anterior, parasagittal, peri-Sylvian and posterior) watershed injury and for more severe injury where multiple regions are injured in combination or as a continuum.
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Magnetic resonance (MR) imaging is an essential tool in the diagnosis and management of pituitary diseases, indispensable for making correct treatment decisions. Successful management and follow-up of pituitary pathology requires an understanding of the MR appearance of normal and abnormal structures in the sellar region. This review will describe the MR appearance of the normal and abnormal pituitary gland and proposes an algorithm for the management strategy of some of the most common abnormalities in or around the sella.
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Doenças da Hipófise , Neoplasias Hipofisárias , Humanos , Imageamento por Ressonância Magnética , Doenças da Hipófise/diagnóstico por imagem , Doenças da Hipófise/terapia , Hipófise/diagnóstico por imagem , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/terapia , Sela TúrcicaRESUMO
The hippocampus is especially vulnerable to seizure-induced damage and excitotoxic neuronal injury. This study examined the time course of neuronal death in relationship to seizure duration and the pharmacological mechanisms underlying seizure-induced cell death using low magnesium (Mg2+) induced continuous high frequency epileptiform discharges (in vitro status epilepticus) in hippocampal neuronal cultures. Neuronal death was assessed using cell morphology and fluorescein diacetate-propidium iodide staining. Effects of low Mg2+ and various receptor antagonists on spike frequency were assessed using patch clamp electrophysiology. We observed a linear and time-dependent increase in neuronal death with increasing durations of status epilepticus. This cell death was dependent upon extracellular calcium (Ca2+) that entered primarily through the N-methyl-d-aspartate (NMDA) glutamate receptor channel subtype. Neuronal death was significantly decreased by co-incubation with the NMDA receptor antagonists and was also inhibited by reduction of extracellular (Ca2+) during status epilepticus. In contrast, neuronal death from in vitro status epilepticus was not significantly prevented by inhibition of other glutamate receptor subtypes or voltage-gated Ca2+ channels. Interestingly this NMDA-Ca2+ dependent neuronal death was much more gradual in onset compared to cell death from excitotoxic glutamate exposure. The results provide evidence that in vitro status epilepticus results in increased activation of the NMDA-Ca2+ transduction pathway leading to neuronal death in a time-dependent fashion. The results also indicate that there is a significant window of opportunity during the initial time of continuous seizure activity to be able to intervene, protect neurons and decrease the high morbidity and mortality associated with status epilepticus.
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Sinalização do Cálcio/efeitos dos fármacos , Cálcio/metabolismo , Hipocampo/patologia , N-Metilaspartato/fisiologia , Neurônios/patologia , Receptores de N-Metil-D-Aspartato/agonistas , Estado Epiléptico/patologia , Animais , Morte Celular/fisiologia , Células Cultivadas , Interpretação Estatística de Dados , Agonistas de Aminoácidos Excitatórios/farmacologia , Antagonistas de Aminoácidos Excitatórios/farmacologia , Deficiência de Magnésio/complicações , Deficiência de Magnésio/patologia , Técnicas de Patch-Clamp , Ratos , Ratos Sprague-Dawley , Convulsões/patologia , Estado Epiléptico/etiologia , Acidente Vascular Cerebral/patologiaRESUMO
There is controversy regarding the optimal imaging strategy in adult blunt trauma patients for suspected cervical spine trauma. Some investigators recommend negative computed tomography (CT) alone to clear the cervical spine in adult blunt trauma patients, while others insist that MR imaging is necessary, especially among obtunded adult blunt trauma patients. CT is an excellent imaging modality for bony cervical spine injury; however, there is a nonzero rate of clinically significant cervical spine injuries missed on CT. MR imaging has high sensitivity for soft tissue cervical spine injuries, but low specificity for the rare isolated unstable ligamentous cervical spine injury.