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1.
Eur J Orthop Surg Traumatol ; 33(1): 107-115, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34817659

RESUMO

PURPOSE: The radiological examination including plain radiography, CT and MRI are critical to assess the severity of the instability, to diagnose the fracture type and to select the appropriate treatment strategy for the thoracic and lumbar vertebral fractures. The aim of this prospective observational study was to investigate the effect of magnetic resonance imaging (MRI) on decision making for the diagnosis and treatment of acute thoracic and lumbar vertebral fractures. METHODS: Consecutive 180 patients with acute thoracic and/or lumbar vertebral fractures were included in the study. The fracture pattern was evaluated by using initial radiographs, computed tomography (CT) and MRI within 24 h of trauma. Fractures were classified according to AO classification before and after MRI. TLICS classification was also used to decide treatment plan. MRI findings were compared to surgical findings in the surgically treated patients. RESULTS: A significant moderate agreement was found between Xray + CT and post-MRI classifications for all fracture types (Kappa = 0.511; p < 0.001). In 101 patients with new findings on MRI, a significant moderate correlation was observed between Xray + CT and post-MRI classifications in the fracture re-classification (Kappa = 0.441, p < 0.001). There was a significant change in the treatment plan of patients with new findings on MRI according to Xray + CT (p < 0.0001). After MRI evaluation, the treatment plan changed in favor of surgery in 33.9% of patients who were scheduled for conservative treatment according to Xray + CT (p < 0.0001). CONCLUSION: Since MRI assessment of acute thoracic and/or lumbar injuries has led to a remarkable treatment change decision that confirms intraoperative findings of the patients who were decided to undergo surgery, MRI should be obtained in thoracic and lumbar vertebral fractures, regardless of the CT and plain radiographic findings. LEVEL OF EVIDENCE: Level II, prospective observational study.


Assuntos
Fraturas da Coluna Vertebral , Vértebras Torácicas , Humanos , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/cirurgia , Vértebras Torácicas/lesões , Fraturas da Coluna Vertebral/diagnóstico por imagem , Fraturas da Coluna Vertebral/cirurgia , Imageamento por Ressonância Magnética/métodos , Radiografia , Tomada de Decisões , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Vértebras Lombares/lesões
2.
Brain ; 143(10): 3104-3120, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-32637987

RESUMO

Preliminary clinical data indicate that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is associated with neurological and neuropsychiatric illness. Responding to this, a weekly virtual coronavirus disease 19 (COVID-19) neurology multi-disciplinary meeting was established at the National Hospital, Queen Square, in early March 2020 in order to discuss and begin to understand neurological presentations in patients with suspected COVID-19-related neurological disorders. Detailed clinical and paraclinical data were collected from cases where the diagnosis of COVID-19 was confirmed through RNA PCR, or where the diagnosis was probable/possible according to World Health Organization criteria. Of 43 patients, 29 were SARS-CoV-2 PCR positive and definite, eight probable and six possible. Five major categories emerged: (i) encephalopathies (n = 10) with delirium/psychosis and no distinct MRI or CSF abnormalities, and with 9/10 making a full or partial recovery with supportive care only; (ii) inflammatory CNS syndromes (n = 12) including encephalitis (n = 2, para- or post-infectious), acute disseminated encephalomyelitis (n = 9), with haemorrhage in five, necrosis in one, and myelitis in two, and isolated myelitis (n = 1). Of these, 10 were treated with corticosteroids, and three of these patients also received intravenous immunoglobulin; one made a full recovery, 10 of 12 made a partial recovery, and one patient died; (iii) ischaemic strokes (n = 8) associated with a pro-thrombotic state (four with pulmonary thromboembolism), one of whom died; (iv) peripheral neurological disorders (n = 8), seven with Guillain-Barré syndrome, one with brachial plexopathy, six of eight making a partial and ongoing recovery; and (v) five patients with miscellaneous central disorders who did not fit these categories. SARS-CoV-2 infection is associated with a wide spectrum of neurological syndromes affecting the whole neuraxis, including the cerebral vasculature and, in some cases, responding to immunotherapies. The high incidence of acute disseminated encephalomyelitis, particularly with haemorrhagic change, is striking. This complication was not related to the severity of the respiratory COVID-19 disease. Early recognition, investigation and management of COVID-19-related neurological disease is challenging. Further clinical, neuroradiological, biomarker and neuropathological studies are essential to determine the underlying pathobiological mechanisms that will guide treatment. Longitudinal follow-up studies will be necessary to ascertain the long-term neurological and neuropsychological consequences of this pandemic.


Assuntos
Infecções por Coronavirus , Doenças do Sistema Nervoso , Pandemias , Pneumonia Viral , Adolescente , Corticosteroides/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Betacoronavirus/patogenicidade , COVID-19 , Infecções por Coronavirus/tratamento farmacológico , Infecções por Coronavirus/epidemiologia , Uso de Medicamentos/estatística & dados numéricos , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Londres/epidemiologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/líquido cefalorraquidiano , Doenças do Sistema Nervoso/diagnóstico por imagem , Doenças do Sistema Nervoso/tratamento farmacológico , Doenças do Sistema Nervoso/epidemiologia , Pneumonia Viral/tratamento farmacológico , Pneumonia Viral/epidemiologia , Estudos Retrospectivos , SARS-CoV-2 , Adulto Jovem
3.
Neurogenetics ; 21(3): 179-186, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32306145

RESUMO

Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the glutaryl-CoA dehydrogenase enzyme involved in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. Glutaryl-CoA dehydrogenase is encoded by the GCDH gene (OMIM #608801), and several mutations in this gene are known to result in GA1. GA1 usually presents in the first 18-36 months of life with mild or severe acute encephalopathy, movement disorders, and striatal degeneration. Few cases of adult-onset GA1 have been described so far in the literature, often with non-specific and sometimes longstanding neurological symptoms. Since a preventive metabolic treatment is available, neurologists must be aware of this rare but likely underdiagnosed presentation, especially when typical neuroimaging features are identified. Here, we describe 35-year-old presenting with headache and subjective memory problems. There was no history of dystonic movement disorders. Neurological examination and neurocognitive tests were normal. Brain MRI scan revealed white matter abnormalities associated with subependymal nodules and mild frontotemporal hypoplasia suggestive of glutaric aciduria type 1 (GA1). Genetic testing confirmed the presence of homozygous c.1204C > T (p.R402W) variant in the GCDH gene, inherited from heterozygous parents.


Assuntos
Idade de Início , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/genética , Encefalopatias Metabólicas/diagnóstico , Encefalopatias Metabólicas/genética , Glutaril-CoA Desidrogenase/deficiência , Glutaril-CoA Desidrogenase/genética , Adulto , Encéfalo/diagnóstico por imagem , Feminino , Estudos de Associação Genética , Glutaratos/metabolismo , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Estilo de Vida , Imageamento por Ressonância Magnética , Mutagênese , Mutação , Linhagem , Fenótipo , Prognóstico , Medição de Risco
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