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  1. Article ; Online: Myelin Oligodendrocyte Glycoprotein (MOG) Associated Diseases: Updates in Pediatric Practice.

    Khoshnood, Mellad M / Santoro, Jonathan D

    Seminars in pediatric neurology

    2023  Volume 46, Page(s) 101056

    Abstract: Myelin oligodendrocyte glycoprotein (MOG) is a membrane bound protein found on the surface of oligodendrocyte cells and the outermost surface of myelin sheaths. MOG is posited to play a role as a cell surface receptor or cell adhesion molecule, though ... ...

    Abstract Myelin oligodendrocyte glycoprotein (MOG) is a membrane bound protein found on the surface of oligodendrocyte cells and the outermost surface of myelin sheaths. MOG is posited to play a role as a cell surface receptor or cell adhesion molecule, though there is no definitive answer to its exact function at this time. In the last few decades, there has been a recognition of anti-MOG-antibodies (MOG-Abs) in association with a variety of neurologic conditions, though primarily demyelinating and white matter disorders. In addition, MOG associated disease (MOGAD) appears to have a predilection for pediatric populations and in some patients may have a relapsing course. There has been considerable debate as to whether MOG-Abs are truly directly pathogenic or a disease biomarker associated with neuorinflammatory disease. In this manuscript we will review the current literature surrounding MOGAD, review new clinical phenotypes, discuss treatment and prognosis, and provide insight into potential future directions that studies may focus on.
    MeSH term(s) Humans ; Myelin-Oligodendrocyte Glycoprotein ; Autoantibodies ; Nervous System Diseases
    Chemical Substances Myelin-Oligodendrocyte Glycoprotein ; Autoantibodies
    Language English
    Publishing date 2023-05-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1290000-x
    ISSN 1558-0776 ; 1071-9091
    ISSN (online) 1558-0776
    ISSN 1071-9091
    DOI 10.1016/j.spen.2023.101056
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Reader response: Characteristics of graduating US allopathic medical students pursuing a career in neurology.

    Santoro, Jonathan D

    Neurology

    2020  Volume 94, Issue 17, Page(s) 762–763

    MeSH term(s) Career Choice ; Humans ; Neurology ; Students, Medical
    Language English
    Publishing date 2020-04-25
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000009330
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  3. Article ; Online: Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome.

    Jafarpour, Saba / Suddock, Jolee / Hawes, Debra / Santoro, Jonathan D

    Journal of clinical immunology

    2024  Volume 44, Issue 3, Page(s) 68

    Abstract: Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by upregulation of type I interferon response. It is associated with increased mortality and severe disabilities. Janus Kinase (JAK) inhibitors have shown effectiveness in ... ...

    Abstract Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by upregulation of type I interferon response. It is associated with increased mortality and severe disabilities. Janus Kinase (JAK) inhibitors have shown effectiveness in treatment of AGS through blocking the downstream effects of interferon activation. We illustrate post-mortem histopathologic findings in a patient with AGS who received baricitinib treatment for a duration of over 4 years, initiating at a remarkably young age of 2 months. We observed global cerebral atrophy, markedly diminished white matter, abundant calcifications involving supratentorial white matter, basal ganglia, dentate nuclei, and brainstem. This study showed profound central nervous system (CNS) sequelae despite early initiation of treatment. Our findings highlight the potential necessity for therapeutic options with enhanced CNS bioavailability.
    MeSH term(s) Humans ; Infant ; Janus Kinase Inhibitors/therapeutic use ; Autoimmune Diseases of the Nervous System/drug therapy ; Autoimmune Diseases of the Nervous System/genetics ; Disease Progression ; Nervous System Malformations
    Chemical Substances Janus Kinase Inhibitors
    Language English
    Publishing date 2024-02-21
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-024-01672-2
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  4. Article ; Online: Autoimmune Encephalitis.

    Jafarpour, Saba / Santoro, Jonathan D

    Pediatrics in review

    2022  Volume 43, Issue 4, Page(s) 198–211

    Abstract: ... iatrogenic, eg, from sedatives), refractory seizures, and dysautonomia. Anti-N-methyl-d-aspartate receptor ...

    Abstract Autoimmune encephalitis is a common and treatable cause of encephalitis in children and adults. Individuals present with a variety of symptoms, including altered mental status, behavioral changes, irritability, insomnia, developmental regression, seizures, dyskinetic movements, and autonomic instability. Evaluation includes electroencephalography, magnetic resonance imaging, and lumbar puncture. Once infectious and other causes are reasonably ruled out, treatment should be started empirically without waiting for antibody confirmation. Early clinical suspicion is key, as the outcome depends on early initiation of immunotherapy, including corticosteroids, intravenous immunoglobulin, and/or plasmapheresis. Severe or refractory cases require other treatments, such as rituximab, cyclophosphamide, or other immunotherapies using novel monoclonal antibodies. Psychiatry should be involved early for the management of behavioral issues. Additional considerations include management of seizures and dyskinesias. ICU admission may be required for management of hypoventilation necessitating mechanical ventilation (either intrinsic or iatrogenic, eg, from sedatives), refractory seizures, and dysautonomia. Anti-N-methyl-d-aspartate receptor and other forms of autoimmune encephalitis are less often associated with neoplasia (such as ovarian teratoma) in children compared with adults, but screening and removal of tumor if present should be performed.
    MeSH term(s) Adult ; Child ; Encephalitis/diagnosis ; Encephalitis/therapy ; Hashimoto Disease/diagnosis ; Hashimoto Disease/therapy ; Humans ; Immunologic Factors ; Immunotherapy/methods ; Teratoma
    Chemical Substances Immunologic Factors
    Language English
    Publishing date 2022-04-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 774515-1
    ISSN 1526-3347 ; 0191-9601
    ISSN (online) 1526-3347
    ISSN 0191-9601
    DOI 10.1542/pir.2021-005096
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  5. Article ; Online: Long-term Sequelae of Pediatric Bickerstaff Brainstem Encephalitis Includes Autonomic and Sleep Dysregulation.

    Santoro, Jonathan D

    Journal of child neurology

    2019  Volume 34, Issue 3, Page(s) 153–160

    Abstract: Bickerstaff brainstem encephalitis is a rare, immune-mediated disorder of the brainstem and peripheral nervous system. Published knowledge of pediatric Bickerstaff brainstem encephalitis focuses on the acute phase of the disease process. This study ... ...

    Abstract Bickerstaff brainstem encephalitis is a rare, immune-mediated disorder of the brainstem and peripheral nervous system. Published knowledge of pediatric Bickerstaff brainstem encephalitis focuses on the acute phase of the disease process. This study evaluated long-term neurologic and immune sequelae of Bickerstaff brainstem encephalitis in children. A single-center retrospective chart review was performed. Clinical data, neuroimaging, polysomnograms, and serum data were reviewed. Five patients were included in this study. Four patients had no neurologic residua, and 1 patient continued to have mild bulbar dysfunction. There was neither recurrence of symptoms nor development of other neurologic or immunologic disorders at a median of 3 years after diagnosis. Review of systems was largely negative, although 2 patients endorsed symptoms consistent with mild orthostatic hypotension for 1 year after diagnosis, but these findings were not sustained. Four of 5 patients endorsed sleep dysregulation. Three patients met criteria for pediatric obstructive sleep apnea. Prognosis following pediatric Bickerstaff brainstem encephalitis is excellent although posttreatment autonomic and sleep dysregulation may reflect residua from acute phase inflammation in the peripheral nervous system and connections of the reticular activating formation of the brainstem, although this was time limited. Further prospective, multicenter, analysis is warranted.
    MeSH term(s) Adolescent ; Antibodies/blood ; Autonomic Nervous System Diseases/diagnosis ; Autonomic Nervous System Diseases/epidemiology ; Autonomic Nervous System Diseases/etiology ; Autonomic Nervous System Diseases/physiopathology ; Child ; Child, Preschool ; Encephalitis/complications ; Encephalitis/epidemiology ; Encephalitis/physiopathology ; Encephalitis/therapy ; Female ; Gangliosides/immunology ; Humans ; Male ; Polysomnography ; Retrospective Studies ; Sleep Wake Disorders/diagnosis ; Sleep Wake Disorders/epidemiology ; Sleep Wake Disorders/etiology ; Sleep Wake Disorders/physiopathology ; Time Factors
    Chemical Substances Antibodies ; Gangliosides ; GQ1b ganglioside (68652-37-9)
    Language English
    Publishing date 2019-01-03
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639288-x
    ISSN 1708-8283 ; 0883-0738
    ISSN (online) 1708-8283
    ISSN 0883-0738
    DOI 10.1177/0883073818820488
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  6. Article ; Online: 50 Years Ago in The Journal of Pediatrics: Abnormally Small Head Size and Intellect in Children.

    Santoro, Jonathan D

    The Journal of pediatrics

    2018  Volume 201, Page(s) 159

    MeSH term(s) Child ; History, 19th Century ; History, 20th Century ; Humans ; Microcephaly/history ; Pediatrics/history ; Periodicals as Topic/history
    Language English
    Publishing date 2018-09-24
    Publishing country United States
    Document type Historical Article ; Journal Article
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2018.03.046
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  7. Article: Metabolic stroke-like episode in a child with FARS2 mutation and SARS-CoV-2 positive cerebrospinal fluid.

    Powers, Kelly T / Santoro, Jonathan D

    Molecular genetics and metabolism reports

    2021  Volume 27, Page(s) 100756

    Abstract: The novel SARS-CoV-2 has infected over 48 million persons around the world. Children have been spared with regards to symptoms and sequelae of this highly infectious virus and in those with neurologic issues, the virus has not been present in the ... ...

    Abstract The novel SARS-CoV-2 has infected over 48 million persons around the world. Children have been spared with regards to symptoms and sequelae of this highly infectious virus and in those with neurologic issues, the virus has not been present in the cerebrospinal fluid. Here, the authors present the first case of metabolic stroke-like episode with SARS-CoV-2 present in the cerebrospinal fluid in a child with a FARS2 deficiency. This report suggests a possible association of SARS-COV-2 infection and metabolic stroke-like episode, even in the absence of a phenotype classically associated with metabolic stroke-like episodes.
    Language English
    Publishing date 2021-04-14
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2021.100756
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  8. Article ; Online: Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.

    Santoro, Jonathan D / Paulsen, Kelli C

    JAMA neurology

    2020  

    Language English
    Publishing date 2020-10-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2702023-X
    ISSN 2168-6157 ; 2168-6149
    ISSN (online) 2168-6157
    ISSN 2168-6149
    DOI 10.1001/jamaneurol.2020.3558
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  9. Article ; Online: William Gordon Lennox (1884-1960).

    Rosso, Mattia / Chu, Duong / Santoro, Jonathan D

    Journal of neurology

    2021  Volume 268, Issue 9, Page(s) 3512–3513

    Language English
    Publishing date 2021-01-08
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-020-10338-z
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  10. Article ; Online: Child Neurology: Neurodegenerative Encephalomyelopathy Associated With

    Jafarpour, Saba / Khoshnood, Mellad / Santoro, Jonathan D

    Neurology

    2022  Volume 99, Issue 8, Page(s) 341–346

    Abstract: Acyl-CoA oxidase 1 (ACOX1) is a peroxisomal enzyme involved in beta-oxidation of very-long-chain fatty acids. Although loss of function ... ...

    Abstract Acyl-CoA oxidase 1 (ACOX1) is a peroxisomal enzyme involved in beta-oxidation of very-long-chain fatty acids. Although loss of function of
    MeSH term(s) Acyl-CoA Oxidase/genetics ; Female ; Gain of Function Mutation ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Immunotherapy ; Mycophenolic Acid/therapeutic use ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/therapy ; Reactive Oxygen Species ; Treatment Outcome ; Young Adult
    Chemical Substances Immunoglobulins, Intravenous ; Reactive Oxygen Species ; Acyl-CoA Oxidase (EC 1.3.3.6) ; Mycophenolic Acid (HU9DX48N0T)
    Language English
    Publishing date 2022-06-17
    Publishing country United States
    Document type Case Reports
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000200935
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