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2.
Neurotrauma Rep ; 3(1): 129-138, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35403100

RESUMO

Football exposes its players to traumatic brain, neck, and spinal injury. It is unknown whether the adolescent football player develops imaging abnormalities of the brain and spine that are detectable on magnetic resonance imaging (MRI). The objective of this observational study was to identify potential MRI signatures of early brain and cervical spine (c-spine) injury in high school football players. Eighteen football players (mean age, 17.0 ± 1.5 years; mean career length, 6.3 ± 4.0 years) had a baseline brain MRI, and 7 had a follow-up scan 9-42 months later. C-spine MRIs were performed on 11 of the 18 subjects, and 5 had a follow-up scan. C-spine MRIs from 12 age-matched hospital controls were also retrospectively retrieved. Brain MRIs were reviewed by a neuroradiologist, and no cerebral microbleeds were detected. Three readers (a neuroradiologist, a neurosurgeon, and an orthopedic spine surgeon) studied the cervical intervertebral discs at six different cervical levels and graded degeneration using an established five-grade scoring system. We observed no statistically significant difference in disc degeneration or any trend toward increased disc degeneration in the c-spine of football players as compared with age-matched controls. Further research is needed to validate our findings and better understand the true impact of contact sports on young athletes.

4.
J Med Genet ; 58(5): 314-325, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-32518176

RESUMO

BACKGROUND: The nucleotide binding protein-like (NUBPL) gene was first reported as a cause of mitochondrial complex I deficiency (MIM 613621, 618242) in 2010. To date, only eight patients have been reported with this mitochondrial disorder. Five other patients were recently reported to have NUBPL disease but their clinical picture was different from the first eight patients. Here, we report clinical and genetic findings in five additional patients (four families). METHODS: Whole exome sequencing was used to identify patients with compound heterozygous NUBPL variants. Functional studies included RNA-Seq transcript analyses, missense variant biochemical analyses in a yeast model (Yarrowia lipolytica) and mitochondrial respiration experiments on patient fibroblasts. RESULTS: The previously reported c.815-27T>C branch-site mutation was found in all four families. In prior patients, c.166G>A [p.G56R] was always found in cis with c.815-27T>C, but only two of four families had both variants. The second variant found in trans with c.815-27T>C in each family was: c.311T>C [p.L104P] in three patients, c.693+1G>A in one patient and c.545T>C [p.V182A] in one patient. Complex I function in the yeast model was impacted by p.L104P but not p.V182A. Clinical features include onset of neurological symptoms at 3-18 months, global developmental delay, cerebellar dysfunction (including ataxia, dysarthria, nystagmus and tremor) and spasticity. Brain MRI showed cerebellar atrophy. Mitochondrial function studies on patient fibroblasts showed significantly reduced spare respiratory capacity. CONCLUSION: We report on five new patients with NUBPL disease, adding to the number and phenotypic variability of patients diagnosed worldwide, and review prior reported patients with pathogenic NUBPL variants.


Assuntos
Doenças Mitocondriais/genética , Proteínas Mitocondriais/genética , Adolescente , Encéfalo/diagnóstico por imagem , Criança , Análise Mutacional de DNA , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Doenças Mitocondriais/diagnóstico por imagem , Doenças Mitocondriais/fisiopatologia , Linhagem , RNA-Seq , Sequenciamento do Exoma , Adulto Jovem
5.
Radiol Case Rep ; 15(5): 457-459, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32123553

RESUMO

We present a case of an otherwise healthy 20-month-old with congenital sensorineural hearing loss. CT and MR imaging demonstrated bilateral asymmetrically severe hypoplasia of the internal auditory canals and vestibulocochlear nerves. Additional developmental inner ear anomalies were present in this patient, including unilateral semicircular canal hypoplasia and suspected bilateral cochlear hypoplasia. The patient retained normal facial nerve function bilaterally. We highlight the current research and understanding of congenital IAC abnormalities.

6.
Ocul Oncol Pathol ; 4(3): 186-190, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29765952

RESUMO

PURPOSE OF THE STUDY: Orbital meningiomas are typically benign tumors, most commonly originating from the dura of the sphenoid wing or the optic nerve sheath. PROCEDURES: We describe an unusual case of a malignant meningioma originating from the frontal lobe that ultimately produced orbital and distant metastases. RESULTS AND CONCLUSIONS: Orbital invasion by the meningioma was preceded by multiple incomplete resections, which may have facilitated access to the orbit. The present case serves to remind clinicians that surgical resection of aggressive, recurrent frontal lobe meningiomas may facilitate subsequent penetration of surrounding structures, particularly by tumors that demonstrate bone-destructive properties.

8.
Radiology ; 276(2): 609-13, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26203712

RESUMO

History A 3-month-old boy presented with new onset of seizure that subsided when he arrived at our institution. There was no reported fever or family history of seizure. Physical examination did not reveal any neurologic abnormalities. Multiple skin lesions of varying sizes were identified on the scalp, trunk, and extremities and were reported to have been present since birth. Laboratory test results were normal. Magnetic resonance (MR) imaging of the brain was performed.


Assuntos
Encefalopatias/diagnóstico , Imageamento por Ressonância Magnética , Melanose/diagnóstico , Síndromes Neurocutâneas/diagnóstico , Encefalopatias/complicações , Humanos , Lactente , Masculino , Melanose/complicações , Síndromes Neurocutâneas/complicações
9.
Clin Ophthalmol ; 9: 1041-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26089636

RESUMO

Glioblastoma multiforme is an aggressive tumor associated with a high rate of recurrence even after maximal therapy. In a disease with poor prognosis and rapid deterioration, early detection of tumor progression is necessary to make timely treatment decisions or to initiate end of life care. We identify two cases where Humphrey visual field testing predated magnetic resonance imaging and positron emission tomography findings of tumor progression by months in glioblastoma multiforme. New or worsening visual field defects may indicate signs of tumor progression in glioblastoma multiforme and should prompt further investigation.

10.
J Digit Imaging ; 28(2): 205-12, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25384539

RESUMO

The aim of this study was to determine the prevalence of different diagnostic image viewing platforms used by radiologists while on-call, and to assess the opinions and preferences of radiology program directors and chief residents regarding their use. An online survey was sent electronically to radiology residency program directors and chief residents via the Association of University Radiologists. Forty-two radiology program directors and 25 chief residents completed the survey, yielding response rates of 24.9 and 8.5 %, respectively. From the survey results, 10 different Picture Archiving Communications Systems (PACS) were identified; GE (25 %), Philips (17 %), and Agfa Impax (15 %) were the most prevalent. Interestingly, only 5 % of all respondents use a secondary "Digital Imaging and Communications in Medicine" viewer for on-call studies. Perceptions of PACS functionality were generally neutral to weakly positive. Most respondents strongly agreed that it is important to have a single integrated PACS for viewing on-call studies and agreed that the PACS should be integrated into the Electronic Medical Records (EMR). The overwhelming majority of respondents use their institution's PACS while on-call. The results show there is still a wide variety of PACS platforms used by different institutions; however, GE, Phillips, and Agfa were some of the most prevalent. Most radiologists surveyed have neutral to slightly positive perceptions about the functionality and ease of use of their PACS. Finally, while radiologists agree that PACS should be integrated with EMR, only 53 % of respondents currently have this arrangement.


Assuntos
Plantão Médico , Atitude do Pessoal de Saúde , Registros Eletrônicos de Saúde/estatística & dados numéricos , Sistemas de Informação em Radiologia/estatística & dados numéricos , Radiologia/educação , Pesquisas sobre Atenção à Saúde , Humanos , Internato e Residência/métodos , Diretores Médicos
11.
J Neurosci ; 34(26): 8672-84, 2014 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-24966369

RESUMO

A significant proportion of temporal lobe epilepsy (TLE), a common, intractable brain disorder, arises in children with febrile status epilepticus (FSE). Preventative therapy development is hampered by our inability to identify early the FSE individuals who will develop TLE. In a naturalistic rat model of FSE, we used high-magnetic-field MRI and long-term video EEG to seek clinically relevant noninvasive markers of epileptogenesis and found that reduced amygdala T2 relaxation times in high-magnetic-field MRI hours after FSE predicted experimental TLE. Reduced T2 values likely represented paramagnetic susceptibility effects derived from increased unsaturated venous hemoglobin, suggesting augmented oxygen utilization after FSE termination. Indeed, T2 correlated with energy-demanding intracellular translocation of the injury-sensor high-mobility group box 1 (HMGB1), a trigger of inflammatory cascades implicated in epileptogenesis. Use of deoxyhemoglobin-sensitive MRI sequences enabled visualization of the predictive changes on lower-field, clinically relevant scanners. This novel MRI signature delineates the onset and suggests mechanisms of epileptogenesis that follow experimental FSE.


Assuntos
Encéfalo/fisiopatologia , Eletroencefalografia/métodos , Epilepsia/diagnóstico , Imageamento por Ressonância Magnética/métodos , Convulsões Febris/complicações , Estado Epiléptico/complicações , Animais , Biomarcadores , Encéfalo/patologia , Modelos Animais de Doenças , Epilepsia/etiologia , Epilepsia/patologia , Epilepsia/fisiopatologia , Ratos , Ratos Sprague-Dawley , Convulsões Febris/patologia , Convulsões Febris/fisiopatologia , Estado Epiléptico/patologia , Estado Epiléptico/fisiopatologia
12.
J Clin Neurosci ; 21(5): 878-80, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24291481

RESUMO

Toxic leukoencephalopathy is a structural alteration of the white matter following exposure to various toxic agents. We report a 49-year-old man exposed to an explosion of lacquer thinner with brain MRI features atypical from those of chronic toxic solvent intoxication.


Assuntos
Incêndios , Laca/toxicidade , Leucoencefalopatias/diagnóstico , Imageamento por Ressonância Magnética , Lesão por Inalação de Fumaça/diagnóstico , Humanos , Leucoencefalopatias/induzido quimicamente , Leucoencefalopatias/etiologia , Masculino , Pessoa de Meia-Idade , Lesão por Inalação de Fumaça/complicações
13.
J Am Coll Radiol ; 9(11): 820-7, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23122350

RESUMO

PURPOSE: The aim of this study was to assess perceptions of the 2011 ACGME duty-hour guidelines among radiology residency directors and chief residents with regard to resident training, the practice of radiology, the quality of resident life, and faculty and staff costs. METHODS: An online survey was sent to radiology program directors and chief residents via the Association of University Radiologists. RESULTS: The response rates were 36.7% for program directors and 18.6% for chief residents. Responses were generally weakly negative from both radiology program directors and chief residents. CONCLUSIONS: Both radiology program directors and chief residents have negative perceptions of the effect of the 2011 ACGME duty-hour guidelines on radiology residency programs. There was significant disagreement between program directors and chief residents with regard to whether attending radiologists or residents would be more affected by the new guidelines.


Assuntos
Atitude do Pessoal de Saúde , Internato e Residência/normas , Guias de Prática Clínica como Assunto , Radiologia/normas , Tolerância ao Trabalho Programado , Carga de Trabalho/normas , Liderança , Radiologia/estatística & dados numéricos , Estados Unidos , Carga de Trabalho/estatística & dados numéricos
14.
Stud Health Technol Inform ; 175: 19-28, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22941984

RESUMO

Progress in our understanding of brain disorders increasingly relies on the costly collection of large standardized brain magnetic resonance imaging (MRI) data sets. Moreover, the clinical interpretation of brain scans benefits from compare and contrast analyses of scans from patients with similar, and sometimes rare, demographic, diagnostic, and treatment status. A solution to both needs is to acquire standardized, research-ready clinical brain scans and to build the information technology infrastructure to share such scans, along with other pertinent information, across hospitals. This paper describes the design, deployment, and operation of a federated imaging system that captures and shares standardized, de-identified clinical brain images in a federation across multiple institutions. In addition to describing innovative aspects of the system architecture and our initial testing of the deployed infrastructure, we also describe the Standardized Imaging Protocol (SIP) developed for the project and our interactions with the Institutional Review Board (IRB) regarding handling patient data in the federated environment.


Assuntos
Encefalopatias/patologia , Encéfalo/patologia , Disseminação de Informação/métodos , Armazenamento e Recuperação da Informação/métodos , Internet , Informática Médica/métodos , Sistemas de Informação em Radiologia/organização & administração , Humanos
15.
Radiographics ; 32(5): 1285-97; discussion 1297-9, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22977018

RESUMO

Patients may present to the hospital at various times after an ischemic stroke. Many present weeks after a neurologic deficit has occurred, as is often the case with elderly patients and those in a nursing home. The ability to determine the age of an ischemic stroke provides useful clinical information for the patient, his or her family, and the medical team. Many times, perfusion imaging is not performed, and pulse sequence-specific magnetic resonance (MR) imaging findings may help determine the age of the infarct. The findings seen at apparent diffusion coefficient mapping and diffusion-weighted, fluid-attenuated inversion recovery (FLAIR) and unenhanced and contrast material-enhanced T1- and T2-weighted gradient-echo and susceptibility-weighted MR imaging may help determine the relative age of a cerebral infarct. Strokes may be classified and dated as early hyperacute, late hyperacute, acute, subacute, or chronic. Recent data indicate that in many patients with restricted diffusion and no change on FLAIR images, it is more likely than was initially thought that the stroke is less than 6 hours old. The time window to administer intravenous tissue plasminogen activator is currently 4.5 hours from the time when the patient was last seen to be normal, and for anterior circulation strokes, the time window for administering intraarterial tissue plasminogen activator is 6 hours from when the patient was last seen to be normal. For this reason, accurate dating is important in patients with ischemic stroke.


Assuntos
Isquemia Encefálica/complicações , Isquemia Encefálica/diagnóstico , Diagnóstico Tardio/prevenção & controle , Angiografia por Ressonância Magnética/métodos , Índice de Gravidade de Doença , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/etiologia , Humanos
16.
Brain Res ; 1466: 33-43, 2012 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-22634375

RESUMO

The first phase of major neuronal rearrangements in the brain takes place during the prenatal period. While the brain continues maturation throughout childhood, a critical second phase of synaptic overproduction and elimination takes place during the preadolescent period. Despite the importance of this developmental phase, few studies have evaluated neural changes taking place during this period. In this study, MRI diffusion tensor imaging data from a normative sample of 126 preadolescent children (59 girls and 67 boys) between the ages of 6 and 10 years were analyzed in order to characterize age-relationships in the white matter microstructure. Tract Based Spatial Statistics (TBSS) method was used for whole brain analysis of white matter tracts without a priori assumption about the location of age associated differences. Our results demonstrate significant age-associated differences in most of the major fiber tracts bilaterally and along the whole body of the tracts. In contrast, developmental differences in the cingulum at the level of the parahippocampal region were only observed in the right hemisphere. We suggest that these age-relationships with a widespread distribution seen during the preadolescent years maybe relevant for the implementation of cognitive and social behaviors needed for a normal development into adulthood.


Assuntos
Encéfalo/crescimento & desenvolvimento , Desenvolvimento Infantil/fisiologia , Fibras Nervosas Mielinizadas/fisiologia , Fatores Etários , Anisotropia , Criança , Imagem de Tensor de Difusão , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Neuroimagem , Valores de Referência
17.
J Clin Neurosci ; 19(12): 1740-1, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22465779

RESUMO

Acute hemorrhagic leukoencephalitis (AHL) is a rapidly progressive disease in the spectrum of acute disseminated encephalomyelitis. Timely accurate diagnosis is crucial but challenging clinically and radiologically. However, imaging findings of AHL are quite specific when susceptibility-weighted imaging is utilized. The purpose of this report is to present the imaging findings of autopsy-proven AHL and thus to facilitate rapid recognition and treatment.


Assuntos
Leucoencefalite Hemorrágica Aguda/diagnóstico por imagem , Leucoencefalite Hemorrágica Aguda/patologia , Imageamento por Ressonância Magnética/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X
18.
Eur Radiol ; 22(7): 1397-403, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22322311

RESUMO

OBJECTIVES: To investigate the ability of susceptibility-weighted imaging (SWI) to predict stroke evolution in comparison with perfusion-weighted imaging (PWI). METHODS: In a retrospective analysis of 15 patients with non-lacunar ischaemic stroke studied no later than 24 h after symptom onset, we used the Alberta Stroke Program Early CT Score (ASPECTS) to compare lesions on initial diffusion-weighted images (DWI), SWI, PWI and follow-up studies obtained at least 5 days after symptom onset. The National Institutes of Health Stroke Scale scores at entry and stroke risk factors were documented. The clinical-DWI, SWI-DWI and PWI-DWI mismatches were calculated. RESULTS: SWI-DWI and mean transit time (MTT)-DWI mismatches were significantly associated with higher incidence of infarct growth (P = 0.007 and 0.028) and had similar ability to predict stroke evolution (P = 1.0). ASPECTS values on initial DWI, SWI and PWI were significantly correlated with those on follow-up studies (P ≤ 0.026) but not associated with infarct growth. The SWI ASPECTS values were best correlated with MTT ones (ρ = 0.8, P < 0.001). CONCLUSIONS: SWI is an alternative to PWI to assess penumbra and predict stroke evolution. Further prospective studies are needed to evaluate the role of SWI in guiding thrombolytic therapy. Key Points • SWI can provide perfusion information comparable to MTT • SWI-DWI mismatch can indicate ischaemic penumbra • SWI-DWI mismatch can be a predictor for stroke evolution.


Assuntos
Isquemia Encefálica/complicações , Isquemia Encefálica/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Angiografia por Ressonância Magnética/métodos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
20.
Front Psychol ; 2: 1, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21713130

RESUMO

Disruptions to brain development associated with shortened gestation place individuals at risk for the development of behavioral and psychological dysfunction throughout the lifespan. The purpose of the present study was to determine if the benefit for brain development conferred by increased gestational length exists on a continuum across the gestational age spectrum among healthy children with a stable neonatal course. Neurodevelopment was evaluated with structural magnetic resonance imaging in 100 healthy right-handed 6- to 10-year-old children born between 28 and 41 gestational weeks with a stable neonatal course. Data indicate that a longer gestational period confers an advantage for neurodevelopment. Longer duration of gestation was associated with region-specific increases in gray matter density. Further, the benefit of longer gestation for brain development was present even when only children born full term were considered. These findings demonstrate that even modest decreases in the duration of gestation can exert profound and lasting effects on neurodevelopment for both term and preterm infants and may contribute to long-term risk for health and disease.

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