Cervical spinal cord injury by a low-impact trauma as an unnoticed cause of cardiorespiratory arrest

Background: Cardiorespiratory arrest (CA) secondary to traumatic cervical spinal cord injury can occur in minor accidents with low-impact trauma and may be overlooked as the cause of CA in patients admitted in the coronary care unit. Case summary: We present two patients admitted to the coronary care unit because of suspected CA of cardiac origin. Both patients were found in CA with asystole, one after collapsing in a shopping mall and falling down a few steps and the other in the street next to his bicycle. They underwent early pharmacologically induced coma and hypothermia precluding neurological examination. Both patients remained in coma after rewarming, with preserved brainstem reflexes but absent motor response to pain. One patient had post-anoxic myoclonus in the face without limb involvement. In both patients, median nerve somatosensory evoked potentials demonstrated bilateral absence of thalamocortical N19 responses and abnormal cervicomedullary junction potentials (N13 wave). Extensive diagnostic work-up did not find a cardiac cause of the CA, pulmonary thromboembolism, or intracranial haemorrhage. In both patients, cervical spinal cord injury was diagnosed incidentally 5 and 6 days after CA, when a brain magnetic resonance imaging performed to assess post-anoxic brain injuries detected spinal cord hyperintensities with fracture and luxation of the odontoid. Both patients died 11 and 8 days after CA. Discussion: Low-impact traumatic cervical spinal cord injury should be considered in the diagnostic work-up of patients with CA of unknown cause

Hearing loss in Adult Women with Turner Syndrome

L'objectiu d'aquest estudi és definir els patrons d'hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d'hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner. Es va trobar que més de la meitat de les dones amb Sindrome de Turner presenten hipoacúsia a l'audiometria, confirmat pels potencials evocats auditius de tronc; la hipoacúsia neurosensorial és el tipus de pèrdua d'audició més freqüent entre dones de mitjana edat amb síndrome de Turner i l'edat, el cariotip i la història prèvia d'otitis mitja recurrent són possibles factors de risc per l'aparició d'hipoacúsia en aquestes pacients.The aim of this study is to define the patterns of hearing loss in patients with Turner Syndrome and all the possible factors that can promote the onset of sensorineural hearing loss in adult women with Turner Syndrome. We found that more than a half of Turner Syndrome females presented hearing loss in pure-tone audiometry, confirmed by brain auditory evoked potentials; sensorineural hearing loss is the most frequent type of hearing impairment among middle-aged women with TS; and age, karyotype and history of recurrent otitis media are likely to be factors that promote hearing loss among these patients

Assessing biological and methodological aspects of brain volume loss in multiple sclerosis

Importance: Before using brain volume loss (BVL) as a marker of therapeutic response in multiple sclerosis (MS), certain biological and methodological issues must be clarified. Objectives: To assess the dynamics of BVL as MS progresses and to evaluate the repeatability and exchangeability of BVL estimates with Jacobian Integration (JI) and Functional Magnetic Resonance Imaging of the Brain (FMRIB) Software Library (FSL) (specifically, the Structural Image Evaluation, Using Normalisation, of Atrophy-Cross-Sectional [SIENA-X] tool or FMRIB's Integrated Registration and Segmentation Tool [FIRST]). Design, Setting, and Participants: A cohort of patients who had either clinically isolated syndrome or MS was enrolled from February 2011 through October 2015. All underwent a series of annual magnetic resonance imaging (MRI) scans. Images from 2 cohorts of healthy volunteers were used to evaluate short-term repeatability of the MRI measurements (n = 34) and annual BVL (n = 20). Data analysis occurred from January to May 2017. Main Outcomes and Measures: The goodness of fit of different models to the dynamics of BVL throughout the MS disease course was assessed. The short-term test-retest error was used as a measure of JI and FSL repeatability. The correlations (R2) of the changes quantified in the brain using JI and FSL, together with the accuracy of the annual BVL cutoffs to discriminate patients with MS from healthy volunteers, were used to measure compatibility of imaging methods. Results: A total of 140 patients with clinically isolated syndrome or MS were enrolled, including 95 women (67.9%); the group had a median (interquartile range) age of 40.7 (33.6-48.1) years. Patients underwent 4 MRI scans with a median (interquartile range) interscan period of 364 (351-379) days. The 34 healthy volunteers (of whom 18 [53%] were women; median [IQR] age, 33.5 [26.2-42.5] years) and 20 healthy volunteers (of whom 10 [50%] were women; median [IQR] age, 33.0 [28.7-39.2] years) underwent 2 MRI scans within a median (IQR) of 24.5 (0.0-74.5) days and 384.5 (366.3-407.8) days for the short-term and long-term MRI follow-up, respectively. The BVL rates were higher in the first 5 years after MS onset (R2 = 0.65 for whole-brain volume change and R2 = 0.52 for gray matter volume change) with a direct association with steroids (β = 0.280; P = .02) and an inverse association with age at MS onset, particularly in the first 5 years (β = 0.015; P = .047). The reproducibility of FSL (SIENA) and JI was similar for whole-brain volume loss, while JI gave more precise, less biased estimates for specific brain regions than FSL (SIENA-X and FIRST). The correlation between whole-brain volume loss using JI and FSL was high (R2 = 0.92), but the same correlations were poor for specific brain regions. The area under curve of the whole-brain volume change to discriminate between patients with MS and healthy volunteers was similar, although the thresholds and accuracy index were distinct for JI and FSL. Conclusions and Relevance: The proposed BVL threshold of less than 0.4% per year as a marker of therapeutic efficiency should be reconsidered because of the different dynamics of BVL as MS progresses and because of the limited reproducibility and variability of estimates using different imaging methods

The multiple sclerosis visual pathway cohort: understanding neurodegeneration in MS

BACKGROUND: Multiple Sclerosis (MS) is an immune-mediated disease of the Central Nervous System with two major underlying etiopathogenic processes: inflammation and neurodegeneration. The latter determines the prognosis of this disease. MS is the main cause of non-traumatic disability in middle-aged populations. FINDINGS: The MS-VisualPath Cohort was set up to study the neurodegenerative component of MS using advanced imaging techniques by focusing on analysis of the visual pathway in a middle-aged MS population in Barcelona, Spain. We started the recruitment of patients in the early phase of MS in 2010 and it remains permanently open. All patients undergo a complete neurological and ophthalmological examination including measurements of physical and disability (Expanded Disability Status Scale; Multiple Sclerosis Functional Composite and neuropsychological tests), disease activity (relapses) and visual function testing (visual acuity, color vision and visual field). The MS-VisualPath protocol also assesses the presence of anxiety and depressive symptoms (Hospital Anxiety and Depression Scale), general quality of life (SF-36) and visual quality of life (25-Item National Eye Institute Visual Function Questionnaire with the 10-Item Neuro-Ophthalmic Supplement). In addition, the imaging protocol includes both retinal (Optical Coherence Tomography and Wide-Field Fundus Imaging) and brain imaging (Magnetic Resonance Imaging). Finally, multifocal Visual Evoked Potentials are used to perform neurophysiological assessment of the visual pathway. DISCUSSION: The analysis of the visual pathway with advance imaging and electrophysilogical tools in parallel with clinical information will provide significant and new knowledge regarding neurodegeneration in MS and provide new clinical and imaging biomarkers to help monitor disease progression in these patients

Hearing loss in Adult Women with Turner Syndrome

L'objectiu d'aquest estudi és definir els patrons d’hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d’hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner. Es va trobar que més de la meitat de les dones amb Sindrome de Turner presenten hipoacúsia a l’audiometria, confirmat pels potencials evocats auditius de tronc; la hipoacúsia neurosensorial és el tipus de pèrdua d'audició més freqüent entre dones de mitjana edat amb síndrome de Turner i l'edat, el cariotip i la història prèvia d'otitis mitja recurrent són possibles factors de risc per l’aparició d’hipoacúsia en aquestes pacients.The aim of this study is to define the patterns of hearing loss in patients with Turner Syndrome and all the possible factors that can promote the onset of sensorineural hearing loss in adult women with Turner Syndrome. We found that more than a half of Turner Syndrome females presented hearing loss in pure-tone audiometry, confirmed by brain auditory evoked potentials; sensorineural hearing loss is the most frequent type of hearing impairment among middle-aged women with TS; and age, karyotype and history of recurrent otitis media are likely to be factors that promote hearing loss among these patients

Hearing loss in Adult Women with Turner Syndrome

L'objectiu d'aquest estudi és definir els patrons d'hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d'hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner. Es va trobar que més de la meitat de les dones amb Sindrome de Turner presenten hipoacúsia a l'audiometria, confirmat pels potencials evocats auditius de tronc; la hipoacúsia neurosensorial és el tipus de pèrdua d'audició més freqüent entre dones de mitjana edat amb síndrome de Turner i l'edat, el cariotip i la història prèvia d'otitis mitja recurrent són possibles factors de risc per l'aparició d'hipoacúsia en aquestes pacients.The aim of this study is to define the patterns of hearing loss in patients with Turner Syndrome and all the possible factors that can promote the onset of sensorineural hearing loss in adult women with Turner Syndrome. We found that more than a half of Turner Syndrome females presented hearing loss in pure-tone audiometry, confirmed by brain auditory evoked potentials; sensorineural hearing loss is the most frequent type of hearing impairment among middle-aged women with TS; and age, karyotype and history of recurrent otitis media are likely to be factors that promote hearing loss among these patients

Delaying surgery for patients with a previous SARS-CoV-2 infection

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