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  1. Article ; Online: Anti-Immunoglobulin-Like Cell Adhesion Molecule-5 (IgLON5) Associated Neurological Disease Presenting With Bilateral Intraocular Optic Neuritis as an Initial Presentation: Expanding Clinical Phenotype of the Disease.

    Varma-Doyle, Aditi / Chwalisz, Bart K / Linnoila, Jenny

    Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

    2024  

    Language English
    Publishing date 2024-03-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1189901-3
    ISSN 1536-5166 ; 1070-8022
    ISSN (online) 1536-5166
    ISSN 1070-8022
    DOI 10.1097/WNO.0000000000002114
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1670: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Demonstrating new-onset or worsened sudomotor function post-COVID-19 on comparative analysis of autonomic function pre-and post-SARS-CoV-2 infection.

    Varma-Doyle, Aditi / Villemarette-Pittman, Nicole R / Lelorier, Paul / England, John

    eNeurologicalSci

    2023  Volume 30, Page(s) 100445

    Abstract: Background: Autonomic dysfunction including sudomotor abnormalities have been reported in association with SARS-CoV-2 infection.: Objective: There are no previous studies that have compared autonomic function objectively in patients pre- and post- ... ...

    Abstract Background: Autonomic dysfunction including sudomotor abnormalities have been reported in association with SARS-CoV-2 infection.
    Objective: There are no previous studies that have compared autonomic function objectively in patients pre- and post- SARS-CoV-2 infection.We aimed to identify if SARS-CoV-2 virus is triggering and/or worsening dysautonomia by comparing autonomic function tests in a group of patients pre-and post-SARS-CoV-2 infection.
    Design/methods: Six participants were enrolled and divided into two groups. The first group of 4 participants reported worsened autonomic symptoms post-SARS-CoV-2 infection. These individuals had their first autonomic test prior to COVID-19 pandemic outbreak (July 2019-December 2019). Autonomic function testing was repeated in these participants, 6 months to 1-year post-SARS-CoV-2 infection (June 2021).The second group of 2 participants reported new-onset autonomic symptoms post-COVID-19 infection and were also tested within 6 months post-SARS-CoV-2 infection.All participants had mild COVID-19 infection per WHO criteria. They had no evidence of large fiber neuropathy as demonstrated by normal neurophysiological studies (EMG/NCS). They were all screened for known causes of autonomic dysfunction and without risk factors of hypertension/hyperlipidemia, thyroid dysfunction, diabetes/prediabetes, vitamin deficiencies, history of HIV, hepatitis, or syphilis, prior radiation or chemical exposure or evidence of monoclonal gammopathy, or autoimmune condition.
    Results: Participants were female (age: 21-37y) and all endorsed orthostatic intolerance (6/6). Gastrointestinal symptoms (⅚), new-onset paresthesias, (3/6), and sexual dysfunction (2/6) were reported. Parasympathetic autonomic function remained stable 6-months to 1-year post-COVID-19 infection and no parasympathetic dysfunction was demonstrated in participants with new-onset dysautonomia symptoms. Postural orthostatic tachycardia was noted in half of the patients, being observed in one patient pre- SARS-CoV-2 infection and persisting post-SARS-CoV-2 infection; while new-onset postural tachycardia was observed in 1/3rd of patients. Sympathetic cholinergic (sudomotor) dysfunction was demonstrated in ALL participants. Worsened, or new-onset, sudomotor dysfunction was demonstrated in those with mild or normal sudomotor function on pre-COVID-19 autonomic testing.
    Conclusions: Sympathetic adrenergic and cholinergic dysautonomia probably account for some of the symptoms of Long COVID-19. Sudomotor dysfunction was demonstrated as consistently worsened or new-sequelae to COVID-19 infection. COVID-19 may be responsible for triggering new-onset or worsened small-fiber neuropathy in this sample, supporting previously reported studies with similar findings. However, the findings in our study are preliminary, and studies with larger sample size are needed to confirm these observations.
    Language English
    Publishing date 2023-01-26
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2838045-9
    ISSN 2405-6502 ; 2405-6502
    ISSN (online) 2405-6502
    ISSN 2405-6502
    DOI 10.1016/j.ensci.2023.100445
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Pure autonomic failure and the differential diagnosis of autonomic peripheral neuropathies.

    González-Duarte, Alejandra / Varma-Doyle, Aditi / Freeman, Roy

    Current opinion in neurology

    2021  Volume 34, Issue 5, Page(s) 675–682

    Abstract: Purpose of review: Pure autonomic failure (PAF) is a peripheral autonomic neurodegenerative disease caused by alpha-synuclein deposition that is predominantly confined to peripheral autonomic neurons. Patients present with insidious features of ... ...

    Abstract Purpose of review: Pure autonomic failure (PAF) is a peripheral autonomic neurodegenerative disease caused by alpha-synuclein deposition that is predominantly confined to peripheral autonomic neurons. Patients present with insidious features of autonomic failure that have a chronic course.In this review, we highlight the features of PAF, the differentiating features from other autonomic neuropathies, the diagnostic tests, and the predictors for conversion to a central synucleinopathy.
    Recent findings: Natural history studies have defined the predictors for and rate of conversion to a central alpha-synucleinopathy. Skin immunohistochemistry techniques and demonstration of length-dependent neuronal loss of both somatic and autonomic small fiber nerves, and intraneural phosphorylated synuclein deposition provide diagnostic biomarkers. In the future, diagnosis maybe supported by measuring cerebrospinal fluid alpha-synuclein oligomers using techniques, such as protein misfolding cyclic amplification assay and real-time quaking-induced conversion.
    Summary: PAF is a sporadic peripheral autonomic neurodegenerative disease that belongs to the group of disorders known as alpha-synucleinopathies. Peripheral autonomic manifestations are similar to those seen in other autonomic neuropathies, particularly, diabetic autonomic neuropathy, amyloid polyneuropathy, and autoimmune autonomic neuropathies. Novel diagnostic procedures like skin immunohistochemistry for alpha-synuclein, and protein amplification techniques are being investigated to provide an earlier and more specific diagnosis. A substantial number of PAF patients' phenoconvert to a central alpha-synucleinopathy.
    MeSH term(s) Autonomic Nervous System Diseases/diagnosis ; Diagnosis, Differential ; Humans ; Neurodegenerative Diseases ; Peripheral Nervous System Diseases/diagnosis ; Pure Autonomic Failure/diagnosis ; Synucleinopathies ; alpha-Synuclein
    Chemical Substances alpha-Synuclein
    Language English
    Publishing date 2021-08-10
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000000985
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2524: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Hemi-parkinsonism and return of essential tremors after MRgFUS thalamotomy: Case report and review of procedural complications affecting ventral thalamic nuclei.

    Varma-Doyle, Aditi Vian / Villemarette-Pittman, Nicole R / Copeland, Brian J

    eNeurologicalSci

    2021  Volume 23, Page(s) 100339

    Abstract: Magnetic resonance guided focused ultrasound (MRgFUS) thalamotomy targets the ventral intermediate nucleus of the thalamus and has been shown to be safe and effective to treat medication-resistant essential tremors. Improvement in tremor scores, posture ... ...

    Abstract Magnetic resonance guided focused ultrasound (MRgFUS) thalamotomy targets the ventral intermediate nucleus of the thalamus and has been shown to be safe and effective to treat medication-resistant essential tremors. Improvement in tremor scores, posture and action scores, disability scores and quality of life scores have been reported in patients treated with this procedure. Adverse events are usually transient and non-severe. We present a patient who underwent MRgFUS thalamotomy of the left VIM and developed new-onset parkinsonian features predominantly on the right side and return of essential tremors a few years after the procedure. Changes in speech (hypophonia and dysarthria), gait imbalance and postural instability, bradykinesia, and cogwheeling rigidity occurred, likely due to involvement of the fiber tracts through the ventrolateral subnuclei and the adjacent ventral anterior thalamic nuclei and other surrounding structures. We describe side effects of MRgFUS thalamotomy in our patient compared to previous reports and review the thalamic nuclei and surrounding structures that can be affected during procedure, causing these effects.
    Language English
    Publishing date 2021-04-13
    Publishing country Netherlands
    Document type Case Reports
    ZDB-ID 2838045-9
    ISSN 2405-6502 ; 2405-6502
    ISSN (online) 2405-6502
    ISSN 2405-6502
    DOI 10.1016/j.ensci.2021.100339
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Ascending Paralysis in a 36-Year-Old Woman With Bipolar Disorder and Recent Aspiration Pneumonia.

    Varma-Doyle, Aditi Vian / Garvie, Kristen / Walvekar, Seema / Igi, Mae / Garikepati, Radha Mayuri

    Journal of investigative medicine high impact case reports

    2020  Volume 8, Page(s) 2324709620931649

    Abstract: Guillain-Barré syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy affecting both motor and sensory peripheral nerves. Typically presenting after a gastrointestinal or a respiratory tract infection, it manifests as ascending paralysis ... ...

    Abstract Guillain-Barré syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy affecting both motor and sensory peripheral nerves. Typically presenting after a gastrointestinal or a respiratory tract infection, it manifests as ascending paralysis with concomitant areflexia in patients. Cytoalbuminologic dissociation is a supportive finding on cerebrospinal fluid (CSF) analysis. Due to variability in presentation, misdiagnosis and delay in treatment can occur, and consequently, GBS can become life threatening due to respiratory failure. We report ascending paralysis in a 36-year-old woman with known history of bipolar disorder who recently recovered from aspiration pneumonia following a drug overdose event. Given her psychiatric history, she was initially misdiagnosed as conversion disorder. Intravenous immunoglobulin (IVIG) therapy was initiated at our hospital due to strong suspicion of GBS, based on history and physical examination findings consistent with flaccid quadriparesis and impending respiratory failure. CSF analysis and radiological findings subsequently supported our clinical suspicion and clinical findings. Concurrent IVIG therapy, pain management, aggressive physical and respiratory therapy, and monitoring resulted in symptom improvement. One must have a high index of suspicion for GBS when presented with acute inflammatory demyelinating neuropathies in patients who present with ascending paralysis. Early initiation of therapy is key and can prevent life-threatening complications.
    MeSH term(s) Adult ; Bipolar Disorder/complications ; Female ; Guillain-Barre Syndrome/cerebrospinal fluid ; Guillain-Barre Syndrome/diagnosis ; Guillain-Barre Syndrome/therapy ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Pneumonia, Aspiration/complications ; Quadriplegia/etiology ; Respiratory Insufficiency/etiology
    Chemical Substances Immunoglobulins, Intravenous
    Language English
    Publishing date 2020-06-11
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2710326-2
    ISSN 2324-7096 ; 2324-7096
    ISSN (online) 2324-7096
    ISSN 2324-7096
    DOI 10.1177/2324709620931649
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: A hypothesis-generating scoping review of miRs identified in both multiple sclerosis and dementia, their protein targets, and miR signaling pathways.

    Varma-Doyle, Aditi Vian / Lukiw, Walter J / Zhao, Yuhai / Lovera, Jesus / Devier, Deidre

    Journal of the neurological sciences

    2020  Volume 420, Page(s) 117202

    Abstract: Cognitive impairment (CI) is a frequent complication affecting people with multiple sclerosis (MS). The causes of CI in MS are not fully understood. Besides MRI measures, few other biomarkers exist to help us predict the development of CI and understand ... ...

    Abstract Cognitive impairment (CI) is a frequent complication affecting people with multiple sclerosis (MS). The causes of CI in MS are not fully understood. Besides MRI measures, few other biomarkers exist to help us predict the development of CI and understand its biology. MicroRNAs (miRs) are relatively stable, non-coding RNA molecules about 22 nucleotides in length that can serve as biomarkers and possible therapeutic targets in several autoimmune and neurodegenerative diseases, including the dementias. In this review, we identify dysregulated miRs in MS that overlap with dysregulated miRs in cognitive disorders and dementia and explore how these overlapping miRs play a role in CI in MS. MiR-15, miR-21, miR-128, miR-132, miR-138, miR-142, miR-146a, miR-155, miR-181, miR-572, and let-7 are known to contribute to various forms of dementia and show abnormal expression in MS. These overlapping miRs are involved in pathways related to apoptosis, neuroinflammation, glutamate toxicity, astrocyte activation, microglial burst activity, synaptic dysfunction, and remyelination. The mechanisms of action suggest that these miRs may be related to CI in MS. From our review, we also delineated miRs that could be neuroprotective in MS, namely miR-23a, miR-219, miR-214, and miR-22. Further studies can help clarify if these miRs are responsible for CI in MS, leading to potential therapeutic targets.
    MeSH term(s) Apoptosis ; Dementia/genetics ; Humans ; MicroRNAs/genetics ; Multiple Sclerosis/genetics ; Signal Transduction
    Chemical Substances MIRN138 microRNA, human ; MIRN15 microRNA, human ; MIRN214 microRNA, human ; MIRN219 microRNA, human ; MicroRNAs
    Language English
    Publishing date 2020-10-23
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2020.117202
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 308: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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