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1.
J Stroke Cerebrovasc Dis ; 33(8): 107806, 2024 Jun 03.
Article in English | MEDLINE | ID: mdl-38839026

ABSTRACT

BACKGROUND AND PURPOSE: The value of long-term serial imaging of dissecting pseudoaneurysm (dPSA) is poorly characterized. This study investigated the long-term radiographic evolution of dPSA. METHODS: We performed a query in our institutional craniocervical artery dissection registry to identify cases with spontaneous dPSA who had at least one year of follow-up with serial angiographic imaging. We performed Wilcoxon rank-sum pairwise comparison test to determine if there was a significant change in the aneurysm size over time. RESULTS: This observational cohort study included 76 patients (46 females; 64 dPSA in the internal carotid artery [ICA] and 12 in the vertebral artery [VA]) with a median age of 49.5 years (range 24-77). The initial median dPSA size was 8 mm (interquantile range(iqr) = 5.88-11mm), and the final median dPSA size was 7 mm (iqr = 4-11 mm). Most patients had either no change or reduction in dPSA size in the serial follow-up, with no significant change over time. All the patients had favorable outcomes at the last follow-up, and most patients were symptom-free from dPSA (92 %). Two patients (2.6%) experienced recurrent ischemic strokes in the same territory as the initial ischemic stroke without any change in dPSA size. CONCLUSION: Further serial scans for dPSA after one year may be deferred in the absence of interim clinical symptoms as most dPSA either remains stable or decreases in size. Recurrent stroke, although a rare event, was not associated with an increase in dPSA size.

2.
Mayo Clin Proc Innov Qual Outcomes ; 8(1): 17-27, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38186924

ABSTRACT

Objective: To describe our practice of electronic consultations (e-consults) and assess safety and risk factors for subsequent face-to-face consultations. Patients and Methods: A retrospective cohort study of all e-consults completed in a community neurology practice between May 5, 2018, and June 31, 2019, was completed. Clinical and demographic variables were compared between the successful and unsuccessful (defined by presence of subsequent face-to-face consultation) cohorts. Hazard ratios (HR) were calculated using Cox regression model. Kaplan-Meier probability analysis (with 95% CIs) of subsequent face-to-face consultation was performed. Case examples highlighting potential harm were summarized. Results: In total, 302 e-consults were reviewed. The most frequent referrals were for headache (n=125, 41.4%), dysesthesia (n=40, 13.2%), and abnormal imaging finding (n=27, 8.9%). The most common e-consult questions were for treatment (57.6%) and diagnostic evaluation (48.0%) recommendations. Moreover, 24.8% (n=75) of e-consults were followed by face-to-face consultations, with primary risk factors including female sex (HR, 1.9), referral for headache (HR, 1.7), and final diagnosis of migraine (HR, 2.0) or long-term migraine (HR, 5.0). Potential harm related to delayed diagnosis/treatment was identified in 6 (2.0%) patients with migraine and 4 (1.3%) without migraine presenting to emergency department. Conclusion: Utilization of e-consults may safely improve access to neurologic expertise and prevent the need for some visits, which may have required a face-to-face visit. In patients with chronic migraine, e-consults should be considered short-term and followed by face-to-face consultation as soon as access allows. Neurologists performing e-consults should be able to triage patients to face-to-face consultation, particularly when diagnosis is uncertain or the neurologic examination may help guide appropriate testing.

3.
Neuromuscul Disord ; 34: 89-94, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38159460

ABSTRACT

Valosin-containing protein (VCP) pathogenic variants are the most common cause of multisystem proteinopathy presenting with inclusion body myopathy, amyotrophic lateral sclerosis/frontotemporal dementia, and Paget disease of bone in isolation or in combination. We report a patient manifesting with adolescent-onset myopathy caused by a novel heterozygous VCP variant (c.467G > T, p.Gly156Val). The myopathy manifested asymmetrically in lower limbs and extended to proximal, axial, and upper limb muscles, with loss of ambulation at age 35. Creatine kinase value was normal. Alkaline phosphatase was elevated. Electromyography detected mixed low amplitude, short duration and high amplitude, long duration motor unit potentials. Muscle biopsy showed features of inclusion body myopathy, which in combination with newly diagnosed Paget disease of bone, supported the VCP variant pathogenicity. In conclusion, VCP-multisystem proteinopathy is not only a disease of adulthood but can have a pediatric onset and should be considered in differential diagnosis of neuromuscular weakness in the pediatric population.


Subject(s)
Muscular Diseases , Myositis, Inclusion Body , Osteitis Deformans , Proteostasis Deficiencies , Adolescent , Adult , Child , Humans , Cell Cycle Proteins/genetics , Mutation/genetics , Myositis, Inclusion Body/diagnosis , Myositis, Inclusion Body/genetics , Myositis, Inclusion Body/pathology , Osteitis Deformans/diagnosis , Osteitis Deformans/genetics , Osteitis Deformans/pathology , Valosin Containing Protein/genetics
5.
Front Neurol ; 13: 827866, 2022.
Article in English | MEDLINE | ID: mdl-35273559

ABSTRACT

Stroke is one of the leading causes of death and disability. Despite the high prevalence of stroke, characterizing the acute neural recovery patterns that follow stroke and predicting long-term recovery remains challenging. Objective methods to quantify and characterize neural injury are still lacking. Since neuroimaging methods have a poor temporal resolution, EEG has been used as a method for characterizing post-stroke recovery mechanisms for various deficits including motor, language, and cognition as well as predicting treatment response to experimental therapies. In addition, transcranial magnetic stimulation (TMS), a form of non-invasive brain stimulation, has been used in conjunction with EEG (TMS-EEG) to evaluate neurophysiology for a variety of indications. TMS-EEG has significant potential for exploring brain connectivity using focal TMS-evoked potentials and oscillations, which may allow for the system-specific delineation of recovery patterns after stroke. In this review, we summarize the use of EEG alone or in combination with TMS in post-stroke motor, language, cognition, and functional/global recovery. Overall, stroke leads to a reduction in higher frequency activity (≥8 Hz) and intra-hemispheric connectivity in the lesioned hemisphere, which creates an activity imbalance between non-lesioned and lesioned hemispheres. Compensatory activity in the non-lesioned hemisphere leads mostly to unfavorable outcomes and further aggravated interhemispheric imbalance. Balanced interhemispheric activity with increased intrahemispheric coherence in the lesioned networks correlates with improved post-stroke recovery. TMS-EEG studies reveal the clinical importance of cortical reactivity and functional connectivity within the sensorimotor cortex for motor recovery after stroke. Although post-stroke motor studies support the prognostic value of TMS-EEG, more studies are needed to determine its utility as a biomarker for recovery across domains including language, cognition, and hemispatial neglect. As a complement to MRI-based technologies, EEG-based technologies are accessible and valuable non-invasive clinical tools in stroke neurology.

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