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  1. AU="Oberholzer, Michael"
  2. AU="Phil B. Tsai"
  3. AU="Tallent, Melanie K"
  4. AU="Bajolle, Fanny"
  5. AU="El-Shafie, Sittana S"
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  1. Article ; Online: Neurorehabilitation of Traumatic Brain Injury (TBI): A Clinical Review.

    Oberholzer, Michael / Müri, René M

    Medical sciences (Basel, Switzerland)

    2019  Volume 7, Issue 3

    Abstract: Traumatic brain injury (TBI) and its potential long-term consequences are of major concern for public health. Neurorehabilitation of affected individuals has some specific characteristics in contrast to neurorehabilitation of patients with acquired brain ...

    Abstract Traumatic brain injury (TBI) and its potential long-term consequences are of major concern for public health. Neurorehabilitation of affected individuals has some specific characteristics in contrast to neurorehabilitation of patients with acquired brain lesions of other aetiology. This review will deal with the clinical consequences of the distinct lesions of TBI. In severe TBI, clinical course often follows a typical initial sequence of coma; followed by disturbed consciousness; later, post-traumatic agitation and amnesia; and finally, recovery of function occurs. In the different phases of neurorehabilitation, physicians should be aware of typical medical complications such as paroxysmal sympathetic hyperactivity, posttraumatic hydrocephalus, and posttraumatic neuroendocrine dysfunctions. Furthermore, we address questions on timing and on existing evidence for different rehabilitation programmes and for holistic neuropsychological rehabilitation approaches.
    Language English
    Publishing date 2019-03-18
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2754473-4
    ISSN 2076-3271 ; 2076-3271
    ISSN (online) 2076-3271
    ISSN 2076-3271
    DOI 10.3390/medsci7030047
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Potential disease trigger as a therapeutic option: infliximab for paradoxical reaction in tuberculosis of the central nervous system.

    Briner, Myriam / Oberholzer, Michael / Wagner, Franca / Chan, Andrew

    BMJ case reports

    2021  Volume 14, Issue 8

    Abstract: A 36-year-old man of central Asian origin was diagnosed with subacute disseminated tuberculosis. Initially, central nervous system involvement was suggested by an encephalopathic condition and MRI showing extensive basal and spinal meningitis. After ... ...

    Abstract A 36-year-old man of central Asian origin was diagnosed with subacute disseminated tuberculosis. Initially, central nervous system involvement was suggested by an encephalopathic condition and MRI showing extensive basal and spinal meningitis. After initiation of anti-tuberculosis drugs and corticosteroid therapy, clinical and radiological deterioration of spinal damage was noted. We interpreted this in the context of a paradoxical reaction, which is suggested to be an overshooting inflammatory response after reconstitution of the immune system. Despite increased dosage of corticosteroids, a gradual worsening of gait ataxia over several weeks was noted. After administration of infliximab, the patient's condition progressively improved.
    MeSH term(s) Adrenal Cortex Hormones/therapeutic use ; Adult ; Antitubercular Agents/therapeutic use ; Central Nervous System ; Humans ; Immune Reconstitution Inflammatory Syndrome/drug therapy ; Infliximab/adverse effects ; Tuberculosis, Miliary/drug therapy
    Chemical Substances Adrenal Cortex Hormones ; Antitubercular Agents ; Infliximab (B72HH48FLU)
    Language English
    Publishing date 2021-08-02
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2020-235511
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Cerebrospinal Fluid HIV-1 Escape in Patients With Neurocognitive Symptoms: Pooled Data From a Neuro-HIV Platform and the NAMACO Study.

    Filippidis, Paraskevas / Damas, Jose / Viala, Benjamin / Assal, Frederic / Nawej Tshikung, Olivier / Tarr, Philip / Derfuss, Tobias / Oberholzer, Michael / Jelcic, Ilijas / Hundsberger, Thomas / Sacco, Leonardo / Cavassini, Matthias / Du Pasquier, Renaud / Darling, Katharine E A

    Journal of acquired immune deficiency syndromes (1999)

    2023  Volume 93, Issue 3, Page(s) 219–228

    Abstract: Background: Despite modern antiretroviral therapy, human immunodeficiency virus-1 (HIV-1) ribonucleic acid (RNA) escape into the cerebrospinal fluid (CSF) may occur. We examined the prevalence of and factors associated with CSF HIV-1 escape among people ...

    Abstract Background: Despite modern antiretroviral therapy, human immunodeficiency virus-1 (HIV-1) ribonucleic acid (RNA) escape into the cerebrospinal fluid (CSF) may occur. We examined the prevalence of and factors associated with CSF HIV-1 escape among people living with HIV (PLWH) in Switzerland.
    Setting: The Neurocognitive Assessment in the Metabolic and Aging Cohort study is an ongoing, prospective, longitudinal, multicenter study within the Swiss HIV Cohort Study. The neuro-HIV platform is a multidisciplinary, single-day outpatient consultation at Lausanne University Hospital.
    Methods: We pooled data from the Neurocognitive Assessment in the Metabolic and Aging Cohort study and the neuro-HIV platform participants who underwent lumbar puncture between 2011 and 2019. Both patient groups had neurocognitive symptoms. Cerebrospinal fluid HIV-1 escape was defined as the presence of quantifiable CSF HIV-1 RNA when plasma HIV-1 RNA was suppressed or CSF HIV-1 RNA greater than plasma HIV-1 RNA when the latter was detectable.
    Results: Of 1166 PLWH assessed, 288 underwent lumbar puncture. Cerebrospinal fluid HIV-1 escape was observed in 25 PLWH (8.7%) of whom 19 (76%) had suppressed plasma HIV-1 RNA. Characteristics of PLWH were comparable whether they had CSF HIV-1 escape or not, including comorbidities, time since HIV diagnosis (15 vs 16 years, P = 0.9), median CD4 nadir (158.5/mm 3 vs 171/mm 3 , P = 0.6), antiretroviral CSF penetration-effectiveness score (7 vs 7 points, P = 0.8), and neurocognitive diagnosis based on Frascati criteria and radiological findings.
    Conclusions: In this large pooled sample of PLWH with neurocognitive symptoms, CSF HIV-1 escape occurred in 8.7% of PLWH. People living with HIV with CSF HIV-1 escape presented no distinctive clinical or paraclinical characteristics. We conclude that lumbar puncture is unavoidable in confirming CSF HIV-1 escape.
    MeSH term(s) Humans ; HIV-1/genetics ; HIV Infections/drug therapy ; Cohort Studies ; Prospective Studies ; RNA, Viral ; Cerebrospinal Fluid ; Viral Load
    Chemical Substances RNA, Viral
    Language English
    Publishing date 2023-03-08
    Publishing country United States
    Document type Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 645053-2
    ISSN 1944-7884 ; 1077-9450 ; 0897-5965 ; 0894-9255 ; 1525-4135
    ISSN (online) 1944-7884 ; 1077-9450
    ISSN 0897-5965 ; 0894-9255 ; 1525-4135
    DOI 10.1097/QAI.0000000000003189
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Anti-kelchlike protein 11 antibody-associated encephalitis: Two case reports and review of the literature.

    León Betancourt, Alejandro / Schwarzwald, Anina / Millonig, Alban / Oberholzer, Michael / Sabater, Lidia / Hammer, Helly / Kamber, Nicole / Diem, Lara / Chan, Andrew / Hoepner, Robert / Salmen, Anke / Friedli, Christoph

    European journal of neurology

    2023  Volume 30, Issue 6, Page(s) 1801–1814

    Abstract: Background and purpose: Kelchlike protein 11 antibodies (KLHL11-IgGs) were first described in 2019 as a marker of paraneoplastic neurological syndromes (PNSs). They have mostly been associated with testicular germ cell tumors (tGCTs).: Methods: Two ... ...

    Abstract Background and purpose: Kelchlike protein 11 antibodies (KLHL11-IgGs) were first described in 2019 as a marker of paraneoplastic neurological syndromes (PNSs). They have mostly been associated with testicular germ cell tumors (tGCTs).
    Methods: Two patients with KLHL11-IgG encephalitis are reported, and the literature is comprehensively reviewed.
    Results: Patient 1 had been in remission from a tGCT 10 years prior. He developed episodic vertigo and diplopia progressing over a few days. Treatment with corticosteroids (CSs) was started a few days after symptom onset. Patient 2 had transient diplopia, which resolved spontaneously. Visual problems persisted for 7 months, when he additionally developed a progressive cerebellar syndrome. One year after onset, CS treatment was started. Initial magnetic resonance imaging was unremarkable in both patients, but analysis of cerebrospinal fluid (CSF) revealed chronic inflammation. KLHL11-IgG was positive in both patients (Patient 1 only in CSF, Patient 2 in serum). Neoplastic screening has so far not revealed any signs of active underlying malignancy. We found 15 publications of 112 patients in total with KLHL11-IgG encephalitis. Most patients (n = 82) had a cerebellar syndrome with or without signs of rhombencephalitis. The most common symptoms were ataxia (n = 82) and vertigo (n = 47), followed by oculomotor disturbances (n = 35) and hearing disorders (n = 31). Eighty of 84 patients had a GCT as an underlying tumor.
    Conclusions: Our cases demonstrate classical symptoms of KLHL11-IgG encephalitis. Early diagnosis and therapy are imperative. As with other PNSs, clinical awareness is needed and further studies are required especially in regard to therapeutic management.
    MeSH term(s) Male ; Humans ; Diplopia ; Encephalitis ; Cerebellar Diseases ; Immunoglobulin G ; Vertigo ; Autoantibodies/analysis
    Chemical Substances Immunoglobulin G ; Autoantibodies
    Language English
    Publishing date 2023-03-20
    Publishing country England
    Document type Case Reports ; Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.15758
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Genomic surveillance at scale is required to detect newly emerging strains at an early timepoint

    Vavrek, Darcy / Speroni, Lucia / Curnow, Kirsten J / Oberholzer, Michael / Moeder, Vanessa / Febbo, Phillip G

    medRxiv

    Abstract: Genomic surveillance in the setting of the coronavirus disease 2019 (COVID-19) pandemic has the potential to identify emerging SARS-CoV-2 strains that may be more transmissible, virulent, evade detection by standard diagnostic tests, or vaccine escapes. ... ...

    Abstract Genomic surveillance in the setting of the coronavirus disease 2019 (COVID-19) pandemic has the potential to identify emerging SARS-CoV-2 strains that may be more transmissible, virulent, evade detection by standard diagnostic tests, or vaccine escapes. The rapid spread of the SARS-CoV-2 B.1.1.7 strain from southern England to other parts of the country and globe is a clear example of the impact of such strains. Early discovery of the B.1.1.7 strain was enabled through the proactive COVID-19 Genomics UK (COG-UK) program and the UK9s commitment to genomic surveillance, sequencing about 10% of positive samples. In order to enact more aggressive public health measures to minimize the spread of such strains, genomic surveillance needs to be of sufficient scale to detect early emergence and expansion in the broader virus population. By modeling common performance characteristics of available diagnostic and sequencing tests, we developed a model that assesses the sampling required to detect emerging strains when they are less than 1% of all strains in a population. This model demonstrates that 5% sampling of all positive tests allows the detection of emerging strains when they are a prevalence of 0.1% to 1.0%. While each country will determine their risk tolerance for the emergence of novel strains, as vaccines are distributed and we work to end the pandemic and prevent future SARS-CoV-2 outbreaks, genomic surveillance will be an integral part of success.
    Keywords covid19
    Language English
    Publishing date 2021-01-15
    Publisher Cold Spring Harbor Laboratory Press
    Document type Article ; Online
    DOI 10.1101/2021.01.12.21249613
    Database COVID19

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  6. Article: Cyclic AMP Regulates Social Behavior in African Trypanosomes

    Oberholzer, Michael / Saada, Edwin A / Hill, Kent L

    mBio. 2015 July 1, v. 6, no. 3

    2015  

    Abstract: ABSTRACT The protozoan parasite Trypanosoma brucei engages in surface-induced social behavior, termed social motility, characterized by single cells assembling into multicellular groups that coordinate their movements in response to extracellular signals. ...

    Abstract ABSTRACT The protozoan parasite Trypanosoma brucei engages in surface-induced social behavior, termed social motility, characterized by single cells assembling into multicellular groups that coordinate their movements in response to extracellular signals. Social motility requires sensing and responding to extracellular signals, but the underlying mechanisms are unknown. Here we report that T. brucei social motility depends on cyclic AMP (cAMP) signaling systems in the parasite’s flagellum (synonymous with cilium). Pharmacological inhibition of cAMP-specific phosphodiesterase (PDE) completely blocks social motility without impacting the viability or motility of individual cells. Using a fluorescence resonance energy transfer (FRET)-based sensor to monitor cAMP dynamics in live cells, we demonstrate that this block in social motility correlates with an increase in intracellular cAMP levels. RNA interference (RNAi) knockdown of the flagellar PDEB1 phenocopies pharmacological PDE inhibition, demonstrating that PDEB1 is required for social motility. Using parasites expressing distinct fluorescent proteins to monitor individuals in a genetically heterogeneous community, we found that the social motility defect of PDEB1 knockdowns is complemented by wild-type parasites in trans . Therefore, PDEB1 knockdown cells are competent for social motility but appear to lack a necessary factor that can be provided by wild-type cells. The combined data demonstrate that the role of cyclic nucleotides in regulating microbial social behavior extends to African trypanosomes and provide an example of transcomplementation in parasitic protozoa.
    Keywords RNA interference ; Trypanosoma brucei ; adenosine monophosphate ; bacteria ; cell communication ; cyclic AMP ; energy transfer ; flagellum ; fluorescent proteins ; microbial physiology ; mutants ; parasites ; pathogenesis ; phenotype ; viability
    Language English
    Dates of publication 2015-0701
    Size p. e01954-14.
    Publishing place American Society for Microbiology
    Document type Article
    ZDB-ID 2557172-2
    ISSN 2150-7511 ; 2161-2129
    ISSN (online) 2150-7511
    ISSN 2161-2129
    DOI 10.1128/mBio.01954-14
    Database NAL-Catalogue (AGRICOLA)

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  7. Article ; Online: Cyclic AMP Regulates Social Behavior in African Trypanosomes.

    Oberholzer, Michael / Saada, Edwin A / Hill, Kent L

    mBio

    2015  Volume 6, Issue 3, Page(s) e01954–14

    Abstract: Unlabelled: The protozoan parasite Trypanosoma brucei engages in surface-induced social behavior, termed social motility, characterized by single cells assembling into multicellular groups that coordinate their movements in response to extracellular ... ...

    Abstract Unlabelled: The protozoan parasite Trypanosoma brucei engages in surface-induced social behavior, termed social motility, characterized by single cells assembling into multicellular groups that coordinate their movements in response to extracellular signals. Social motility requires sensing and responding to extracellular signals, but the underlying mechanisms are unknown. Here we report that T. brucei social motility depends on cyclic AMP (cAMP) signaling systems in the parasite's flagellum (synonymous with cilium). Pharmacological inhibition of cAMP-specific phosphodiesterase (PDE) completely blocks social motility without impacting the viability or motility of individual cells. Using a fluorescence resonance energy transfer (FRET)-based sensor to monitor cAMP dynamics in live cells, we demonstrate that this block in social motility correlates with an increase in intracellular cAMP levels. RNA interference (RNAi) knockdown of the flagellar PDEB1 phenocopies pharmacological PDE inhibition, demonstrating that PDEB1 is required for social motility. Using parasites expressing distinct fluorescent proteins to monitor individuals in a genetically heterogeneous community, we found that the social motility defect of PDEB1 knockdowns is complemented by wild-type parasites in trans. Therefore, PDEB1 knockdown cells are competent for social motility but appear to lack a necessary factor that can be provided by wild-type cells. The combined data demonstrate that the role of cyclic nucleotides in regulating microbial social behavior extends to African trypanosomes and provide an example of transcomplementation in parasitic protozoa.
    Importance: In bacteria, studies of cell-cell communication and social behavior have profoundly influenced our understanding of microbial physiology, signaling, and pathogenesis. In contrast, mechanisms underlying social behavior in protozoan parasites are mostly unknown. Here we show that social behavior in the protozoan parasite Trypanosoma brucei is governed by cyclic-AMP signaling systems in the flagellum, with intriguing parallels to signaling systems that control bacterial social behavior. We also generated a T. brucei social behavior mutant and found that the mutant phenotype is complemented by wild-type cells grown in the same culture. Our findings open new avenues for dissecting social behavior and signaling in protozoan parasites and illustrate the capacity of these organisms to influence each other's behavior in mixed communities.
    MeSH term(s) 3',5'-Cyclic-AMP Phosphodiesterases/genetics ; 3',5'-Cyclic-AMP Phosphodiesterases/metabolism ; Cell Communication ; Cyclic AMP/metabolism ; Flagella/physiology ; Gene Expression Regulation ; Gene Knockdown Techniques ; Locomotion ; Protozoan Proteins/genetics ; Protozoan Proteins/metabolism ; Trypanosoma brucei brucei/growth & development ; Trypanosoma brucei brucei/metabolism ; Trypanosoma brucei brucei/physiology
    Chemical Substances Protozoan Proteins ; Cyclic AMP (E0399OZS9N) ; 3',5'-Cyclic-AMP Phosphodiesterases (EC 3.1.4.17) ; PDEB1 protein, Trypanosoma brucei (EC 3.1.4.17)
    Language English
    Publishing date 2015-04-28
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2557172-2
    ISSN 2150-7511 ; 2161-2129
    ISSN (online) 2150-7511
    ISSN 2161-2129
    DOI 10.1128/mBio.01954-14
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Frequency and evolution of sleep-wake disturbances after ischemic stroke: A 2-year prospective study of 437 patients.

    Duss, Simone B / Bauer-Gambelli, Stefan A / Bernasconi, Corrado / Dekkers, Martijn P J / Gorban-Peric, Corina / Kuen, Doris / Seiler, Andrea / Oberholzer, Michael / Alexiev, Filip / Lippert, Julian / Brill, Anne-Kathrin / Ott, Sebastian R / Zubler, Frédéric / Horvath, Thomas / Schmidt, Markus H / Manconi, Mauro / Bassetti, Claudio L A

    Sleep medicine

    2022  Volume 101, Page(s) 244–251

    Abstract: Objective: In the absence of systematic and longitudinal data, this study prospectively assessed both frequency and evolution of sleep-wake disturbances (SWD) after stroke.: Methods: In 437 consecutively recruited patients with ischemic stroke or ... ...

    Abstract Objective: In the absence of systematic and longitudinal data, this study prospectively assessed both frequency and evolution of sleep-wake disturbances (SWD) after stroke.
    Methods: In 437 consecutively recruited patients with ischemic stroke or transient ischemic attack (TIA), stroke characteristics and outcome were assessed within the 1
    Results: Patients (63.8% male, 87% ischemic stroke and mean age 65.1 ± 13.0 years) presented with mean NIHSS-score of 3.5 ± 4.5 at admission. In the acute phase, respiratory event index was >15/h in 34% and >30/h in 15% of patients. Over the entire observation period, the frequencies of excessive daytime sleepiness (EDS), fatigue and insomnia varied between 10-14%, 22-28% and 20-28%, respectively. Mean insomnia and EDS scores decreased from acute to chronic stroke, whereas restless legs syndrome (RLS) percentages (6-9%) and mean fatigue scores remained similar. Mean self-reported sleep duration was enhanced at acute stroke (month 1: 07:54 ± 01:27h) and decreased at chronic stage (year 2: 07:43 ± 01:20h).
    Conclusions: This study documents a high frequency of SDB, insomnia, fatigue and a prolonged sleep duration after stroke/TIA, which can persist for years. Considering the negative effects of SWD on physical, brain and mental health these data suggest the need for a systematic assessment and management of post-stroke SWD.
    MeSH term(s) Aged ; Female ; Humans ; Male ; Middle Aged ; Disorders of Excessive Somnolence/epidemiology ; Disorders of Excessive Somnolence/etiology ; Fatigue ; Ischemic Attack, Transient/complications ; Ischemic Stroke/complications ; Prospective Studies ; Sleep ; Sleep Apnea Syndromes/epidemiology ; Sleep Apnea Syndromes/etiology ; Sleep Initiation and Maintenance Disorders/epidemiology ; Sleep Initiation and Maintenance Disorders/etiology ; Sleep Wake Disorders/epidemiology ; Sleep Wake Disorders/etiology ; Stroke/complications
    Language English
    Publishing date 2022-10-22
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2012041-2
    ISSN 1878-5506 ; 1389-9457
    ISSN (online) 1878-5506
    ISSN 1389-9457
    DOI 10.1016/j.sleep.2022.10.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Evaluation of an optimized protocol and Illumina ARTIC V4 primer pool for sequencing of SARS-CoV-2 using COVIDSeq™ and DRAGEN™ COVID Lineage App workflow

    Clark, Cyndi R / Hardison, Matthew T / Houdeshell, Holly N / Vest, Alec C / Whitlock, Darcy A / Skola, Dylan D / Koble, Jeffrey S / Oberholzer, Michael / Schroth, Gary P

    bioRxiv

    Abstract: Next-Generation Sequencing based genomic surveillance has been widely implemented for identification and tracking of emerging SARS-CoV-2 variants to guide the Public Health response to the COVID-19 pandemic. Amplicon-based assays, such as the Illumina® ... ...

    Abstract Next-Generation Sequencing based genomic surveillance has been widely implemented for identification and tracking of emerging SARS-CoV-2 variants to guide the Public Health response to the COVID-19 pandemic. Amplicon-based assays, such as the Illumina® COVIDSeq™ Test (RUO) and COVIDSeq Assay (RUO), enable scalable sequencing of SARS-CoV-2, leveraging V3 and V4 primer designs from the ARTIC community and DRAGEN™ COVID Lineage App analysis available on Illumina BaseSpace™. We report here a comparison of COVIDSeq performance for SARS-CoV-2 genome reporting using the ARTIC V3 based primer pool (including primers for human control genes) that is provided with the COVIDSeq kit versus the ARTIC V4 based Illumina COVIDSeq V4 primer pool, using an optimized protocol and DRAGEN COVID Lineage App analysis. The data indicates that both primer pools enable robust reporting of SARS-CoV-2 variants. The Illumina COVIDSeq V4 primer pool has superior performance for SARS-CoV-2 genome reporting, particularly in samples with low virus load, and is therefore the recommended primer pool for genomic surveillance of SARS-CoV-2 for research use using COVIDSeq.
    Keywords covid19
    Language English
    Publishing date 2022-01-10
    Publisher Cold Spring Harbor Laboratory
    Document type Article ; Online
    DOI 10.1101/2022.01.07.475443
    Database COVID19

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  10. Article ; Online: Coexisting narcolepsy (with and without cataplexy) and multiple sclerosis : Six new cases and a literature review.

    Kallweit, Ulf / Bassetti, Claudio L A / Oberholzer, Michael / Fronczek, Rolf / Béguin, Mathieu / Strub, Matthias / Lammers, Gert Jan

    Journal of neurology

    2018  Volume 265, Issue 9, Page(s) 2071–2078

    Abstract: Background: There are increasing data suggesting the involvement of the immune system in narcolepsy. The co-occurrence of narcolepsy with other autoimmune disorders (including multiple sclerosis, MS) is rare.: Patients and methods: International ... ...

    Abstract Background: There are increasing data suggesting the involvement of the immune system in narcolepsy. The co-occurrence of narcolepsy with other autoimmune disorders (including multiple sclerosis, MS) is rare.
    Patients and methods: International multicenter sleep center survey and literature review on narcolepsy with (NC) and without (NwC) cataplexy.
    Results: A total of 26 patients (pts), 6 in the survey and 20 in the literature were found. Two different types of association were identified: (1) Symptomatic type (5 pts): MS preceding the onset of narcolepsy, which was always without cataplexy (NwC); sleep onset REM episodes (SOREM) and hypocretin deficiency were observed in some, and lesions in the hypothalamus in all patients. (2) Coexisting type (18 pts): MS preceding or following the appearance of NC with SOREM, hypocretin deficiency but no lesions in the hypothalamus. A positive effect of steroids, immunoglobulins or natalizumab on narcolepsy symptoms was observed in four patients.
    Discussion: Narcolepsy and MS are rarely associated. In addition to NwC secondary to hypothalamic demyelination, some patients present a coexistence of MS with NC without detectable hypothalamic lesions. The rarity of reports on this association probably reflects underrecognition. The elucidation of underlying genetic and immune mechanisms needs further studies.
    MeSH term(s) Adult ; Female ; Humans ; Male ; Middle Aged ; Multiple Sclerosis/complications ; Multiple Sclerosis/physiopathology ; Multiple Sclerosis/therapy ; Narcolepsy/complications ; Narcolepsy/physiopathology ; Narcolepsy/therapy
    Language English
    Publishing date 2018-07-04
    Publishing country Germany
    Document type Case Reports ; Journal Article ; Multicenter Study ; Review
    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/s00415-018-8949-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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