Introduction. Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing lower motor neuron degeneration leading to weakness and muscle atrophy due to reduction of survival motor neuron ...(SMN) protein. Although SMA was considered an exclusively motor neuron disease, few reports indicate the involvement of nonmotor neurons. The aim of this study is to investigate autonomous nervous system (ANS) involvement in SMA. Materials and Methods. We investigated 9 SMA adult patients and 36 age- and sex-matched controls. ANS was evaluated by sympathetic skin response (SSR). Results. SSR was not elicited in 28% of measurements in cases and in 0% of measurements in controls (p<0.001). Both palmar (p<0.001) and plantar (p<0.001) SSR latencies were significantly longer in cases than controls. Palmar SSR amplitudes were smaller (p=0.036) in patients compared to controls. Conclusions. This study provides new evidence of ANS dysfunction in SMA patients.
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Dostopno za:
BFBNIB, DOBA, FZAB, GIS, IJS, KILJ, NUK, OILJ, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK
We aimed to investigate the performance of several neuroimaging markers provided by perfusion imaging of Acute Ischemic Stroke (AIS) patients with large vessel occlusion (LVO) in order to predict ...clinical outcomes following reperfusion treatments.
We prospectively evaluated consecutive AIS patients with LVO who were treated with reperfusion therapies, during a six-year period. In order to compare patients with good (mRS scores 0-2) and poor (mRS scores 3-6) functional outcomes, data regarding clinical characteristics, the Alberta Stroke Programme Early Computed Tomography Score (ASPECTS) based on unenhanced computed tomography (CT), CT angiography collateral status and perfusion parameters including ischemic core, hypoperfusion volume, mismatch volume between core and penumbra, Tmax > 10 s volume, CBV index and the Hypoperfusion Index Ratio (HIR) were assessed.
A total of 84 acute stroke patients with LVO who met all the inclusion criteria were enrolled. In multivariable logistic regression models increasing age (odds ratio OR: 0.93; 95%CI: 0.88-0.96, p = 0.001), lower admission National Institute of Health Stroke Scale (NIHSS)-score (OR: 0.88; 95%CI: 0.80-0.95, p = 0.004), pretreatment with intravenous thrombolysis (OR: 3.83; 95%CI: 1.29-12.49, p = 0.019) and HIR (OR:0.36; 95%CI: 0.10-0.95, p = 0.042) were independent predictors of good functional outcome at 3 months. The initial univariable associations between HIR and higher likelihood for symptomatic intracranial hemorrhage (sICH) and parenchymal hematoma type 2 (PH2) were attenuated in multivariable analyses failing to reach statistical significance.
Our pilot observational study of unselected AIS patients with LVO treated with reperfusion therapies demonstrated that pre-treatment low HIR in perfusion imaging and IVT were associated with better functional outcomes.
Cerebral venous thrombosis is an uncommon, yet life-threatening condition, affecting mainly young and middle-aged individuals. Moreover, it represents an underrecognised etiology of lobar ...intracerebral hemorrhage (ICH). The clinical course of CVT is variable in the first days after diagnosis and medical complications including pulmonary embolism (PE) may result in early neurological deterioration and death if left untreated.
Case report.
We describe a 46-year-old man with acute left hemiparesis and dysarthria in the context of lobar ICH due to underlying CVT of Trolard vein. Diagnosis was delayed because of misinterpretation of the initial neuroimaging study. Subsequently, the patient rapidly deteriorated and developed submassive PE and left iliofemoral venous thrombosis in the setting of previously undiagnosed hereditary thrombophilia (heterozygous prothrombin gene mutation G2021A). Emergent aspiration thrombectomy was performed resulting in the successful management of PE. A follow-up MRI study confirmed the thrombosed Trolard vein, thus establishing the CVT diagnosis. Anticoagulation treatment was immediately escalated to enoxaparine therapeutic dose resulting in clinical improvement of neurological deficits.
Delayed diagnosis of cerebral venous thrombosis with underlying causes of lobar ICH may result in dire complications. Swift initiation of anticoagulants is paramount even in patients with lobar intracerebral hemorrhage as the initial manifestation of cerebral venous thrombosis.
Objective
In this study, we sought to evaluate the impact of implantable cardiac monitoring (ICM) in the prevention of stroke recurrence after a cryptogenic ischemic stroke or transient ischemic ...attack (TIA).
Methods
We evaluated consecutive patients with cryptogenic ischemic stroke or TIA admitted in a comprehensive stroke center during an 8‐year period. We compared the baseline characteristics and outcomes between patients receiving conventional cardiac monitoring with repeated 24‐hour Holter‐monitoring during the first 5 years in the outpatient setting and those receiving continuous cardiac monitoring with ICM during the last 3 years. Associations on the outcomes of interest were further assessed in multivariable regression models adjusting for potential confounders.
Results
We identified a total of 373 patients receiving conventional cardiac monitoring and 123 patients receiving ICM. Paroxysmal atrial fibrillation (PAF) detection was higher in the ICM cohort compared to the conventional cardiac monitoring cohort (21.1% vs 7.5%, p < 0.001). ICM was independently associated with an increased likelihood of PAF detection during follow‐up (hazard ratio HR = 1.94, 95% confidence interval CI = 1.16–3.24) in multivariable analyses. Patients receiving ICM were also found to have significantly higher rates of anticoagulation initiation (18.7% vs 6.4%, p < 0.001) and lower risk of stroke recurrence (4.1% vs 11.8%, p = 0.013). ICM was independently associated with a lower risk of stroke recurrence during follow‐up (HR = 0.32, 95% CI = 0.11–0.90) in multivariable analyses.
Interpretation
ICM appears to be independently associated with a higher likelihood of PAF detection and anticoagulation initiation after a cryptogenic ischemic stroke or TIA. ICM was also independently related to lower risk of stroke recurrence in our cryptogenic stroke / TIA cohort. ANN NEUROL 2020;88:946–955
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